Canonical Allele Identifier: CA1620089
Gene: CYP1B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2769678
ClinVar RCV Id: RCV003594550
dbSNP Id: rs572392563
ExAC: 2:38302352 G / T
gnomAD v2: 2-38302352-G-T
gnomAD v3: 2-38075209-G-T
gnomAD v4: 2-38075209-G-T
MyVariant Identifiers: chr2:g.38302352G>T (hg19) chr2:g.38075209G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075209G>T , CM000664.2:g.38075209G>T GRCh38
NC_000002.11:g.38302352G>T , CM000664.1:g.38302352G>T GRCh37
NC_000002.10:g.38155856G>T NCBI36
NG_008386.2:g.5893C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000490576.2:c.180C>A ENSP00000478839.2:p.Ile60=
ENST00000610745.5:c.180C>A MANE Select ENSP00000478561.1:p.Ile60=
ENST00000490576.1:c.180C>A ENSP00000478839.1:p.Ile60=
ENST00000494864.1:c.-70-3899C>A ENSP00000479876.1:n.-70-3899C>A
ENST00000610745.4:c.180C>A ENSP00000478561.1:p.Ile60=
ENST00000613082.1:n.375+571C>A
ENST00000614273.1:c.180C>A ENSP00000483678.1:p.Ile60=
NM_000104.3:c.180C>A NP_000095.2:p.Ile60=
NM_000104.4:c.180C>A MANE Select NP_000095.2:p.Ile60=
Search 100 bp 5'
Search 100 bp 3'