Canonical Allele Identifier: CA7659235

Gene: CYP1A1

Linked Data

• ClinVar Variation Id: 717748
• ClinVar RCV Id: RCV000890591 ; RCV003975623
• dbSNP Id: rs41279188
• ExAC: 15:75012979 G / T
• gnomAD v2: 15-75012979-G-T
• gnomAD v3: 15-74720638-G-T
• gnomAD v4: 15-74720638-G-T
• MyVariant Identifiers: chr15:g.75012979G>T (hg19) ; chr15:g.74720638G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74720638G>T , CM000677.2:g.74720638G>T	GRCh38
NC_000015.9:g.75012979G>T , CM000677.1:g.75012979G>T	GRCh37
NC_000015.8:g.72800032G>T	NCBI36
NG_008431.1:g.3097G>T
NG_008431.2:g.3097G>T
NG_061374.1:g.9891C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379727.8:c.1390C>A MANE Select	ENSP00000369050.3:p.Arg464Ser
ENST00000379727.7:c.1390C>A	ENSP00000369050.3:p.Arg464Ser
ENST00000395048.6:c.1390C>A	ENSP00000378488.2:p.Arg464Ser
ENST00000395049.8:c.1303C>A	ENSP00000378489.4:p.Arg435Ser
ENST00000567032.5:c.1390C>A	ENSP00000456585.1:p.Arg464Ser
ENST00000612821.4:c.1306C>A	ENSP00000479744.1:p.Arg436Ser
ENST00000617691.4:c.1303C>A	ENSP00000482863.1:p.Arg435Ser
NM_000499.3:c.1390C>A	NP_000490.1:p.Arg464Ser
XM_005254185.1:c.1390C>A	XP_005254242.1:p.Arg464Ser
NM_000499.5:c.1390C>A	NP_000490.1:p.Arg464Ser
NM_001319216.2:c.1303C>A	NP_001306145.1:p.Arg435Ser
NM_001319217.2:c.1390C>A MANE Select	NP_001306146.1:p.Arg464Ser