Canonical Allele Identifier: CA7659207

Gene: CYP1A1

Linked Data

• ClinVar Variation Id: 784617
• ClinVar RCV Id: RCV000966337 ; RCV003905909
• dbSNP Id: rs45460597
• ExAC: 15:75012896 G / A
• gnomAD v2: 15-75012896-G-A
• gnomAD v3: 15-74720555-G-A
• gnomAD v4: 15-74720555-G-A
• MyVariant Identifiers: chr15:g.75012896G>A (hg19) ; chr15:g.74720555G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74720555G>A , CM000677.2:g.74720555G>A	GRCh38
NC_000015.9:g.75012896G>A , CM000677.1:g.75012896G>A	GRCh37
NC_000015.8:g.72799949G>A	NCBI36
NG_008431.1:g.3014G>A
NG_008431.2:g.3014G>A
NG_061374.1:g.9974C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000379727.8:c.1473C>T MANE Select	ENSP00000369050.3:p.Thr491=
ENST00000379727.7:c.1473C>T	ENSP00000369050.3:p.Thr491=
ENST00000395048.6:c.1473C>T	ENSP00000378488.2:p.Thr491=
ENST00000395049.8:c.1386C>T	ENSP00000378489.4:p.Thr462=
ENST00000567032.5:c.1473C>T	ENSP00000456585.1:p.Thr491=
ENST00000612821.4:c.1389C>T	ENSP00000479744.1:p.Thr463=
ENST00000617691.4:c.1386C>T	ENSP00000482863.1:p.Thr462=
NM_000499.3:c.1473C>T	NP_000490.1:p.Thr491=
XM_005254185.1:c.1473C>T	XP_005254242.1:p.Thr491=
NM_000499.5:c.1473C>T	NP_000490.1:p.Thr491=
NM_001319216.2:c.1386C>T	NP_001306145.1:p.Thr462=
NM_001319217.2:c.1473C>T MANE Select	NP_001306146.1:p.Thr491=