CYP1A2 allele nomenclature

CYP1A2 alleles are shown per legacy content of the Human P450 Nomenclature database and have not been updated since 2017. Curation by PharmVar is pending.

Allele	Protein	Nucleotide changes, Gene* *Position 5347 should have a T instead of a C to be considered *1A.	Trivial name	Effect	Enzyme activity		References
					In vivo	In vitro
CYP1A2*1A	CYP1A2.1	None	Wild-type		Normal	Normal	Ikeya et al, 1989 Quattrochi and Tukey, 1989
CYP1A2*1B	CYP1A2.1	5347T>C					Nakajima et al, 1994 Welfare et al, 1999
CYP1A2*1C	CYP1A2.1	-3860G>A			Decreased		Nakajima et al, 1999
CYP1A2*1D	CYP1A2.1	-2467delT					Japanese patent number 05719026 Chida et al, 1999
CYP1A2*1E	CYP1A2.1	-739T>G					Japanese patent number 05719026 Chida et al, 1999
CYP1A2*1F	CYP1A2.1	-163C>A There is confusion about the definition of the CYP1A2*1F allele in the literature. Please observe that according to the Human CYP-allele Nomenclature Committee the CYP1A2*1F allele is defined as having -163A.			Higher inducibility		Japanese patent number 05719026 Sachse et al, 1999 Chida et al, 1999 Han et al., 2002 Sim et al., 2013
CYP1A2*1G	CYP1A2.1	-739T>G; 5347T>C					Chevalier et al, 2001
CYP1A2*1H	CYP1A2.1	2025A>C; 5347T>C					Chevalier et al, 2001
CYP1A2*1J	CYP1A2.1	-739T>G; -163C>A					Aklillu et al, 2003
CYP1A2*1K	CYP1A2.1	-739T>G; -729C>T; -163C>A			Decr		Aklillu et al, 2003
CYP1A2*1L Predicted haplotype	CYP1A2.1	-3860G>A; -2467delT; -163C>A; 5347T>C					Soyama et al., 2005
CYP1A2*1M Predicted haplotype	CYP1A2.1	-163C>A; 2159G>A					Soyama et al., 2005
CYP1A2*1N Predicted haplotype	CYP1A2.1	-3594T>G; -2467delT; -163C>A; 2321G>C; 5521A>G; 5347T>C					Soyama et al., 2005
CYP1A2*1P Predicted haplotype	CYP1A2.1	-3594T>G; -2467delT; -733G>C; -163C>A; 2321G>C; 5521A>G; 5347T>C					Soyama et al., 2005
CYP1A2*1Q Predicted haplotype	CYP1A2.1	-2808A>C; -163C>A; 2159G>A					Soyama et al., 2005
CYP1A2*1R Predicted haplotype	CYP1A2.1	-3594T>G; -2467delT; -367C>T; -163C>A; 2321G>C; 5521A>G; 5347T>C					Soyama et al., 2005
CYP1A2*1S Predicted haplotype	CYP1A2.1	-3053A>G; 5347T>C					Soyama et al., 2005
CYP1A2*1T Predicted haplotype	CYP1A2.1	-2667T>G; 5347T>C					Soyama et al., 2005
CYP1A2*1U Predicted haplotype	CYP1A2.1	678C>T; 5347T>C					Soyama et al., 2005
CYP1A2*1V Predicted haplotype	CYP1A2.1	-2467delT; -163C>A					Ghotbi et al., 2007
CYP1A2*1W Predicted haplotype	CYP1A2.1	-3113A>G; -2467delT; -739T>G; -163C>A					Ghotbi et al., 2007
CYP1A2*2	CYP1A2.2	63C>G		F21L			Huang et al, 1999
CYP1A2*3	CYP1A2.3	2116G>A; 5347T>C		D348N	Decr expr		Chevalier et al, 2001 Zhou et al., 2004
CYP1A2*4	CYP1A2.4	2499A>T		I386F	Decr expr		Chevalier et al, 2001 Zhou et al., 2004
CYP1A2*5	CYP1A2.5	3496G>A		C406Y			Chevalier et al, 2001
CYP1A2*6	CYP1A2.6	5090C>T		R431W	Abolished expr		Chevalier et al, 2001 Zhou et al., 2004
CYP1A2*7		3533G>A		Splicing defect	Decr		Allorge et al, 2003
CYP1A2*8	CYP1A2.8	5166G>A; 5347T>C		R456H		Decr	Soyama et al., 2005 Saito et al., 2005
CYP1A2*9	CYP1A2.9	248C>T		T83M			Murayama et al, 2004
CYP1A2*10	CYP1A2.10	502G>C		E168Q			Murayama et al, 2004
CYP1A2*11	CYP1A2.11	558C>A		F186L		Decr	Murayama et al, 2004
CYP1A2*12	CYP1A2.12	634A>T		S212C			Murayama et al, 2004
CYP1A2*13	CYP1A2.13	1514G>A		G299S			Murayama et al, 2004
CYP1A2*14	CYP1A2.14	5112C>T		T438I			Murayama et al, 2004
CYP1A2*15	CYP1A2.15	125C>G; 5347T>C		P42R		Decr	Soyama et al., 2005 Saito et al., 2005
CYP1A2*16	CYP1A2.16	2473G>A; 5347T>C		R377Q		Decr	Soyama et al., 2005 Saito et al., 2005
CYP1A2*17	CYP1A2.17	-163C>A; 2159G>A; 3463C>T; 5347T>C		T395M			Browning et al., 2010
CYP1A2*18	CYP1A2.18	3468A>C; 5347T>C		N397H			Browning et al., 2010
CYP1A2*19	CYP1A2.19	5328G>A; 5347T>C		R510Q			Browning et al., 2010
CYP1A2*20	CYP1A2.20	5105G>A; 5347T>C		D436N			Browning et al., 2010
CYP1A2*21		-163C>A; 1513C>A; 5284C>A; 5347T>C		S298R; Y495X			Browning et al., 2010
Additional SNPs, where the haplotype has not yet been determined
		-1051T>C; -733G>C; 1590C>T; 2570G>A; 2646C>T; 2694A>C; 5010C>T; 5521A>G					Solus et al., 2004
		53C>G		S18C			Solus et al., 2004
		1559A>G		I314V			Solus et al., 2004
		5253C>G		P485R			Browning et al., 2010
		5094T>C		F432S			Browning et al., 2010

Changes made since the last update (12-Nov-2007) are marked in red.

Allele frequencies: Solus et al., 2004

Links to the NCBI dbSNP homepage are available for functional SNPs when present in NCBI's database.

Nucleotide variations in bold are the major SNPs/alterations responsible for the phenotype of the corresponding allele.

GenBank OMIM GeneCards