CYP2C19

Normal

Richardson et al, 1997

CYP2C19*1C

CYP2C19.1B

991A>G

80161A>G

Normal

Splicing defect; I331V

CYP2C19*2A

99C>T; 681G>A; 990C>T; 991A>G

99C>T; 19154G>A; 80160C>T; 80161A>G
(12662A>G is likely part of all *2 alleles)

m1; m1A

None

de Morais et al, 1994a

CYP2C19*2B

99C>T; 276G>C; 681G>A; 990C>T; 991A>G

99C>T; 12460G>C; 19154G>A; 80160C>T; 80161A>G
(12662A>G is likely part of all *2 alleles)

m1B

E92D; splicing defect; I331V

None

Ibeanu et al, 1998b

CYP2C19*2C
(also called CYP2C19*21)

99C>T; 481G>C; 681G>A; 990C>T; 991A>G

-98T>C; 99C>T; 12122G>A; 12662A>G; 12834G>C; 19154G>A; 19520A>G; 57740C>G; 79936T>A; 80160C>T; 80161A>G

A161P, splicing defect, I331V

None

CYP2C19*2D

99C>T; 681G>A; 990C>T; 991A>G; 1213G>A

-98T>C; 99C>T; 12662A>G; 19154G>A; 57740C>G; 80160C>T; 80161A>G; 87275G>A

splicing defect, E405K

None

Lee et al., 2009

CYP2C19*2E

99C>T; 681G>A; 813G>A; 990C>T; 991A>G

99C>T; 19154G>A; 19286G>A; 80160C>T; 80161A>G
(12662A>G is likely part of all *2 alleles)

Splicing defect; M271I; I331V

None

CYP2C19*2F

99C>T; 681G>A; 990C>T; 991A>G; 1021G>A

99C>T; 19154G>A; 80160C>T; 80161A>G; 80191G>A
(12662A>G is likely part of all *2 alleles)

Splicing defect; I331V; D341N

None

CYP2C19*2G

99C>T; 681G>A; 990C>T; 991A>G; 1079A>T

99C>T; 19154G>A; 80160C>T; 80161A>G; 80249A>T
(12662A>G is likely part of all *2 alleles)

Splicing defect; I331V; D360V

None

CYP2C19*2H

99C>T; 681G>A; 990C>T; 991A>G; 1186C>G

99C>T; 19154G>A; 80160C>T; 80161A>G; 87248C>G
(12662A>G is likely part of all *2 alleles)

Splicing defect; I331V; H396D

None

CYP2C19*2J

9C>T; 681G>A; 990C>T; 991A>G; 1261A>C

99C>T; 19154G>A; 80160C>T; 80161A>G; 87323A>C
(12662A>G is likely part of all *2 alleles)

Splicing defect; I331V; K421Q

None

CYP2C19*3A

636G>A; 991A>G; 1251A>C

17948G>A; 80161A>G; 87313A>C

W212X; I331V

None

de Morais et al, 1994b

CYP2C19*3B
(also called CYP2C19*20)

636G>A; 991A>G; 1078G>A; 1251A>C

-889T>G; 12013T>G; 12122G>A; 12306G>A; 13166T>C; 17948G>A; 18911A>G; 80161A>G; 80248G>A; 87313A>C

W212X; D360N; I331V

None

CYP2C19*3C

407T>A; 636G>A; 991A>G; 1251A>C

12760T>A; 17948G>A; 80161A>G; 87313A>C

M136K,W212X; I331V

Scott et al., 2011
Zackrisson et al., 2010

CYP2C19*4A

1A>G; 99C>T, 991A>G

1A>G; 99C>T; 80161A>G

GTG initiation codon; I331V

None

Ferguson et al, 1998

CYP2C19*4B

1A>G; 99C>T, 991A>G

-3402C>T; -806C>T; 1A>G; 99C>T; 80161A>G

GTG initiation codon; I331V

None

CYP2C19*5A

CYP2C19.5A

1297C>T

90033C>T

R433W

None

Xiao et al, 1997
Ibeanu et al, 1998a

CYP2C19*5B

CYP2C19.5B

99C>T; 991A>G; 1297C>T

99C>T; 80161A>G; 90033C>T

I331V; R433W

None

Ibeanu et al, 1998a

CYP2C19*6

CYP2C19.6

99C>T; 395G>A; 991A>G

99C>T; 12748G>A; 80161A>G

R132Q; I331V

None

Ibeanu et al, 1998b

CYP2C19*7

19294T>A

Splicing defect

None

Ibeanu et al, 1999

CYP2C19*8

CYP2C19.8

358T>C

12711T>C

W120R

None

Decr

Ibeanu et al, 1999

CYP2C19*9

CYP2C19.9

99C>T; 431G>A; 991A>G

99C>T; 12784G>A; 80161A>G

R144H; I331V

(Decr)

CYP2C19*10

CYP2C19.10

99C>T; 680C>T; 991A>G

99C>T; 19153C>T; 80161A>G

P227L; I331V

Decr

CYP2C19*11

CYP2C19.11

99C>T; 449G>A; 991A>G

99C>T; 12802G>A; 80161A>G

R150H (12802G>A) can also exist in linkage with CYP2C19*'2s
-98T>C and 12662A>G

R150H; I331V

Skierka and Black, 2014

CYP2C19*12

CYP2C19.12

99C>T; 991A>G; 1473A>C

99C>T; 80161A>G; 90209A>C

I331V; X491C; 26 extra aa

Unstable

CYP2C19*13

CYP2C19.13

991A>G; 1228C>T

80161A>G; 87290C>T

I331V; R410C

CYP2C19*14

CYP2C19.14

50T>C; 99C>T; 991A>G

50T>C; 99C>T; 80161A>G

L17P; I331V

CYP2C19*15

CYP2C19.15

55A>C; 991A>G

55A>C; 80161A>G

I19L; I331V

CYP2C19*16

CYP2C19.16

1324C>T

Existence of the CYP2C19*2 polymorphism 681G>A on the same allele cannot be excluded

90060C>T

R442C

Morita et al, 2004

CYP2C19*17

CYP2C19.17

99C>T; 991A>G

-3402C>T; -806C>T; 99C>T; 80161A>G

Sim et al., 2006
Rudberg et al., 2007
Sibbing et al., 2010

Incr.

Incr. transcr.

CYP2C19*18

CYP2C19.18

99C>T; 986G>A; 991A>G

99C>T; 80156G>A; 80161A>G; 87106T>C

R329H; I331V

CYP2C19*19

CYP2C19.19

99C>T; 151A>G; 991A>G

99C>T; 151A>G; 80161A>G; 87106T>C

S51G; I331V

CYP2C19*20

See CYP2C19*3B

CYP2C19*21

See CYP2C19*2C

CYP2C19*22

CYP2C19.22

557G>C; 991A>G

17869G>C; 80161A>G

R186P; I331V

Matimba et al., 2009

CYP2C19*23

CYP2C19.23

99C>T; 271G>C; 991A>G

99C>T; 12455G>C; 80161A>G

G91R; I331V

Zhou et al., 2009

CYP2C19*24

CYP2C19.24

99C>T; 991A>G; 1004G>A; 1197A>G

99C>T; 80161A>G; 80174G>A; 87259A>G

I331V; R335Q

Zhou et al., 2009

CYP2C19*25

CYP2C19.25

99C>T; 991A>G; 1344C>G

99C>T; 80161A>G; 90080C>G

I331V; F448L

Zhou et al., 2009

CYP2C19*26

CYP2C19.26

99C>T; 766G>A; 991A>G

99C>T; 19239G>A; 80161A>G

D256N; I331V

Lee et al., 2009

CYP2C19*27

CYP2C19.1B

991A>G

-1041G>A; 80161A>G

Decr. expr.

CYP2C19*28
(Preliminary)

CYP2C19.28

55A>C; 991A>G; 1120G>A

-2030C>T; -2020C>A; -1439T>C; 55A>C; 80161A>G; 80290G>A

I19L; I331V; V374I

CYP2C19*29

CYP2C19.29

83A>T; 99C>T; 991A>G

83A>T; 99C>T; 80161A>G

K28I; I331V

CYP2C19*30

CYP2C19.30

217C>T

12401C>T

(Potentially exists on a CYP2C19*1B or *1C background)

R73C

CYP2C19*31

CYP2C19.31

99C>T; 232C>T; 991A>G

99C>T; 12416C>T; 80161A>G

H78Y; I331V

CYP2C19*32

CYP2C19.32

99C>T; 296A>G; 991A>G

99C>T; 12480A>G; 80161A>G

H99R; I331V

CYP2C19*33

CYP2C19.33

99C>T: 562G>A; 991A>G

99C>T; 17874G>A; 80161A>G

D188N; I331V

CYP2C19*34

CYP2C19.34

-13G>A; 7C>T; 10T>C

P3S; F4L

Chua et al., 2013

CYP2C19*35

CYP2C19.35

99C>T: 562G>A; 991A>G

99C>T; 12662A>G; 80161A>G

Splicing defect; I331V

None

Chaudhry et al,. 2015

Additional SNPs, where the haplotype has not yet been determined

Matimba et al., 2009

183T>C

-1418C>T

46C>T

(Linkage with *2 is unclear)

L16F

101_102insCCTAC

(Linkage with *2 is unclear)

35Frameshift

371G>A

12724G>A

(Linkage with *2 is unclear)

R124Q

373C>G

12726C>G

(Linkage with *2 and *3 is unclear)

R125G

389C>T

12742C>T

(Linkage with *2 is unclear)

T130M

692A>C

19165A>C

(Linkage with *2 is unclear)

N231T

764T>C

19237T>C

(Linkage with *3 is unclear)

M255T

781C>T

19254C>T

(Linkage with *2 is unclear)

R261W

831C>A

57802C>A

(Linkage with *2 and *3 is unclear)

N277K

908G>A

57879G>A

(Linkage with *2 is unclear)

S303N

980T>C

80150T>C

(Linkage with *2 is unclear)

I327T

1208A>T

87270A>T

(Linkage with *2 is unclear)

N403I

1289C>T

87351C>T

(Linkage with *3 is unclear)

A430V