Canonical Allele Identifier: CA393163711

Gene: CYP1A1

Linked Data

• dbSNP Id: rs1346984407
• gnomAD v2: 15-75012853-A-G
• gnomAD v4: 15-74720512-A-G
• MyVariant Identifiers: chr15:g.75012853A>G (hg19) ; chr15:g.74720512A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74720512A>G , CM000677.2:g.74720512A>G	GRCh38
NC_000015.9:g.75012853A>G , CM000677.1:g.75012853A>G	GRCh37
NC_000015.8:g.72799906A>G	NCBI36
NG_008431.1:g.2971A>G
NG_008431.2:g.2971A>G
NG_061374.1:g.10017T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379727.8:c.1516T>C MANE Select	ENSP00000369050.3:p.Phe506Leu
ENST00000379727.7:c.1516T>C	ENSP00000369050.3:p.Phe506Leu
ENST00000395048.6:c.1516T>C	ENSP00000378488.2:p.Phe506Leu
ENST00000395049.8:c.1429T>C	ENSP00000378489.4:p.Phe477Leu
ENST00000567032.5:c.1516T>C	ENSP00000456585.1:p.Phe506Leu
ENST00000612821.4:c.1432T>C	ENSP00000479744.1:p.Phe478Leu
ENST00000617691.4:c.1429T>C	ENSP00000482863.1:p.Phe477Leu
NM_000499.3:c.1516T>C	NP_000490.1:p.Phe506Leu
XM_005254185.1:c.1516T>C	XP_005254242.1:p.Phe506Leu
NM_000499.5:c.1516T>C	NP_000490.1:p.Phe506Leu
NM_001319216.2:c.1429T>C	NP_001306145.1:p.Phe477Leu
NM_001319217.2:c.1516T>C MANE Select	NP_001306146.1:p.Phe506Leu