Canonical Allele Identifier: CA1620081

Gene: CYP1B1

Linked Data

• ClinVar Variation Id: 896783
• ClinVar RCV Id: RCV001139672 ; RCV001139673
• dbSNP Id: rs377210850
• ExAC: 2:38302306 G / T
• gnomAD v2: 2-38302306-G-T
• gnomAD v3: 2-38075163-G-T
• gnomAD v4: 2-38075163-G-T
• MyVariant Identifiers: chr2:g.38302306G>T (hg19) ; chr2:g.38075163G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075163G>T , CM000664.2:g.38075163G>T	GRCh38
NC_000002.11:g.38302306G>T , CM000664.1:g.38302306G>T	GRCh37
NC_000002.10:g.38155810G>T	NCBI36
NG_008386.2:g.5939C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000490576.2:c.226C>A	ENSP00000478839.2:p.Arg76Ser
ENST00000610745.5:c.226C>A MANE Select	ENSP00000478561.1:p.Arg76Ser
ENST00000490576.1:c.226C>A	ENSP00000478839.1:p.Arg76Ser
ENST00000494864.1:c.-70-3853C>A	ENSP00000479876.1:n.-70-3853C>A
ENST00000610745.4:c.226C>A	ENSP00000478561.1:p.Arg76Ser
ENST00000613082.1:n.375+617C>A
ENST00000614273.1:c.226C>A	ENSP00000483678.1:p.Arg76Ser
NM_000104.3:c.226C>A	NP_000095.2:p.Arg76Ser
NM_000104.4:c.226C>A MANE Select	NP_000095.2:p.Arg76Ser