Canonical Allele Identifier: CA491488346

Gene: CYP1A1

Linked Data

• dbSNP Id: rs1447379758
• gnomAD v2: 15-75013070-G-A
• gnomAD v4: 15-74720729-G-A
• MyVariant Identifiers: chr15:g.75013070G>A (hg19) ; chr15:g.74720729G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74720729G>A , CM000677.2:g.74720729G>A	GRCh38
NC_000015.9:g.75013070G>A , CM000677.1:g.75013070G>A	GRCh37
NC_000015.8:g.72800123G>A	NCBI36
NG_008431.1:g.3188G>A
NG_008431.2:g.3188G>A
NG_061374.1:g.9800C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379727.8:c.1299C>T MANE Select	ENSP00000369050.3:p.Leu433=
ENST00000379727.7:c.1299C>T	ENSP00000369050.3:p.Leu433=
ENST00000395048.6:c.1299C>T	ENSP00000378488.2:p.Leu433=
ENST00000395049.8:c.1212C>T	ENSP00000378489.4:p.Leu404=
ENST00000562201.5:c.*536C>T	ENSP00000455340.1:n.*536C>T
ENST00000564596.5:c.*234C>T	ENSP00000457668.1:n.*234C>T
ENST00000566503.1:c.516C>T	ENSP00000455846.1:p.Leu172=
ENST00000567032.5:c.1299C>T	ENSP00000456585.1:p.Leu433=
ENST00000569630.5:c.*888C>T	ENSP00000455051.1:n.*888C>T
ENST00000612821.4:c.1215C>T	ENSP00000479744.1:p.Leu405=
ENST00000617691.4:c.1212C>T	ENSP00000482863.1:p.Leu404=
NM_000499.3:c.1299C>T	NP_000490.1:p.Leu433=
XM_005254185.1:c.1299C>T	XP_005254242.1:p.Leu433=
NM_000499.5:c.1299C>T	NP_000490.1:p.Leu433=
NM_001319216.2:c.1212C>T	NP_001306145.1:p.Leu404=
NM_001319217.2:c.1299C>T MANE Select	NP_001306146.1:p.Leu433=