Canonical Allele Identifier: CA1619780

Gene: CYP1B1

Linked Data

• ClinVar Variation Id: 2882896
• ClinVar RCV Id: RCV003759594
• dbSNP Id: rs754617543
• ExAC: 2:38298051 G / C
• gnomAD v2: 2-38298051-G-C
• gnomAD v3: 2-38070908-G-C
• gnomAD v4: 2-38070908-G-C
• COSMIC: COSM4983971
• MyVariant Identifiers: chr2:g.38298051G>C (hg19) ; chr2:g.38070908G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38070908G>C , CM000664.2:g.38070908G>C	GRCh38
NC_000002.11:g.38298051G>C , CM000664.1:g.38298051G>C	GRCh37
NC_000002.10:g.38151555G>C	NCBI36
NG_008386.2:g.10194C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000490576.2:c.1446C>G	ENSP00000478839.2:p.Leu482=
ENST00000610745.5:c.1446C>G MANE Select	ENSP00000478561.1:p.Leu482=
ENST00000494864.1:c.333C>G	ENSP00000479876.1:p.Leu111=
ENST00000610745.4:c.1446C>G	ENSP00000478561.1:p.Leu482=
ENST00000614273.1:c.1446C>G	ENSP00000483678.1:p.Leu482=
NM_000104.3:c.1446C>G	NP_000095.2:p.Leu482=
NM_000104.4:c.1446C>G MANE Select	NP_000095.2:p.Leu482=