Canonical Allele Identifier: CA1620137

Gene: CYP1B1

Linked Data

• dbSNP Id: rs779053553
• ExAC: 2:38302533 C / G
• gnomAD v2: 2-38302533-C-G
• gnomAD v4: 2-38075390-C-G
• MyVariant Identifiers: chr2:g.38302533C>G (hg19) ; chr2:g.38075390C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075390C>G , CM000664.2:g.38075390C>G	GRCh38
NC_000002.11:g.38302533C>G , CM000664.1:g.38302533C>G	GRCh37
NC_000002.10:g.38156037C>G	NCBI36
NG_008386.2:g.5712G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.-1-1G>C	ENSP00000478839.2:n.-1-1G>C
ENST00000610745.5:c.-1-1G>C MANE Select	ENSP00000478561.1:n.-1-1G>C
ENST00000490576.1:c.-1-1G>C	ENSP00000478839.1:n.-1-1G>C
ENST00000494864.1:c.-70-4080G>C	ENSP00000479876.1:n.-70-4080G>C
ENST00000610745.4:c.-1-1G>C	ENSP00000478561.1:n.-1-1G>C
ENST00000613082.1:n.375+390G>C
ENST00000614273.1:c.-1-1G>C	ENSP00000483678.1:n.-1-1G>C
NM_000104.3:c.-1-1G>C	NP_000095.2:n.-1-1G>C
XM_011533236.1:c.4C>G	XP_011531538.1:p.Leu2Val
NM_000104.4:c.-1-1G>C MANE Select	NP_000095.2:n.-1-1G>C