Canonical Allele Identifier: CA7659234

Gene: CYP1A1

Linked Data

• dbSNP Id: rs750089998
• ExAC: 15:75012973 C / T
• gnomAD v2: 15-75012973-C-T
• gnomAD v4: 15-74720632-C-T
• MyVariant Identifiers: chr15:g.75012973C>T (hg19) ; chr15:g.74720632C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74720632C>T , CM000677.2:g.74720632C>T	GRCh38
NC_000015.9:g.75012973C>T , CM000677.1:g.75012973C>T	GRCh37
NC_000015.8:g.72800026C>T	NCBI36
NG_008431.1:g.3091C>T
NG_008431.2:g.3091C>T
NG_061374.1:g.9897G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379727.8:c.1396G>A MANE Select	ENSP00000369050.3:p.Glu466Lys
ENST00000379727.7:c.1396G>A	ENSP00000369050.3:p.Glu466Lys
ENST00000395048.6:c.1396G>A	ENSP00000378488.2:p.Glu466Lys
ENST00000395049.8:c.1309G>A	ENSP00000378489.4:p.Glu437Lys
ENST00000567032.5:c.1396G>A	ENSP00000456585.1:p.Glu466Lys
ENST00000612821.4:c.1312G>A	ENSP00000479744.1:p.Glu438Lys
ENST00000617691.4:c.1309G>A	ENSP00000482863.1:p.Glu437Lys
NM_000499.3:c.1396G>A	NP_000490.1:p.Glu466Lys
XM_005254185.1:c.1396G>A	XP_005254242.1:p.Glu466Lys
NM_000499.5:c.1396G>A	NP_000490.1:p.Glu466Lys
NM_001319216.2:c.1309G>A	NP_001306145.1:p.Glu437Lys
NM_001319217.2:c.1396G>A MANE Select	NP_001306146.1:p.Glu466Lys