Canonical Allele Identifier: CA1619774

Gene: CYP1B1

Linked Data

• ClinVar Variation Id: 3007005
• ClinVar RCV Id: RCV003861620
• dbSNP Id: rs147998053
• ExAC: 2:38298024 G / A
• gnomAD v2: 2-38298024-G-A
• gnomAD v3: 2-38070881-G-A
• gnomAD v4: 2-38070881-G-A
• MyVariant Identifiers: chr2:g.38298024G>A (hg19) ; chr2:g.38070881G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38070881G>A , CM000664.2:g.38070881G>A	GRCh38
NC_000002.11:g.38298024G>A , CM000664.1:g.38298024G>A	GRCh37
NC_000002.10:g.38151528G>A	NCBI36
NG_008386.2:g.10221C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000490576.2:c.1473C>T	ENSP00000478839.2:p.Cys491=
ENST00000610745.5:c.1473C>T MANE Select	ENSP00000478561.1:p.Cys491=
ENST00000494864.1:c.360C>T	ENSP00000479876.1:p.Cys120=
ENST00000610745.4:c.1473C>T	ENSP00000478561.1:p.Cys491=
ENST00000614273.1:c.1473C>T	ENSP00000483678.1:p.Cys491=
NM_000104.3:c.1473C>T	NP_000095.2:p.Cys491=
NM_000104.4:c.1473C>T MANE Select	NP_000095.2:p.Cys491=