Canonical Allele Identifier: CA1620059

Gene: CYP1B1

Linked Data

• ClinVar Variation Id: 2577219
• ClinVar RCV Id: RCV003324296 ; RCV003466062 ; RCV003594648
• dbSNP Id: rs779730090
• ExAC: 2:38302215 G / T
• gnomAD v2: 2-38302215-G-T
• gnomAD v3: 2-38075072-G-T
• gnomAD v4: 2-38075072-G-T
• MyVariant Identifiers: chr2:g.38302215G>T (hg19) ; chr2:g.38075072G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075072G>T , CM000664.2:g.38075072G>T	GRCh38
NC_000002.11:g.38302215G>T , CM000664.1:g.38302215G>T	GRCh37
NC_000002.10:g.38155719G>T	NCBI36
NG_008386.2:g.6030C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000490576.2:c.317C>A	ENSP00000478839.2:p.Ala106Asp
ENST00000610745.5:c.317C>A MANE Select	ENSP00000478561.1:p.Ala106Asp
ENST00000490576.1:c.317C>A	ENSP00000478839.1:p.Ala106Asp
ENST00000494864.1:c.-70-3762C>A	ENSP00000479876.1:n.-70-3762C>A
ENST00000610745.4:c.317C>A	ENSP00000478561.1:p.Ala106Asp
ENST00000613082.1:n.376-664C>A
ENST00000614273.1:c.317C>A	ENSP00000483678.1:p.Ala106Asp
NM_000104.3:c.317C>A	NP_000095.2:p.Ala106Asp
NM_000104.4:c.317C>A MANE Select	NP_000095.2:p.Ala106Asp