Canonical Allele Identifier: CA346329757
Gene: CYP1B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1030597
ClinVar RCV Id: RCV001332190 RCV003989684
dbSNP Id: rs1682512619
gnomAD v4: 2-38075208-C-T
MyVariant Identifiers: chr2:g.38302351C>T (hg19) chr2:g.38075208C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075208C>T , CM000664.2:g.38075208C>T GRCh38
NC_000002.11:g.38302351C>T , CM000664.1:g.38302351C>T GRCh37
NC_000002.10:g.38155855C>T NCBI36
NG_008386.2:g.5894G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.181G>A ENSP00000478839.2:p.Gly61Arg
ENST00000610745.5:c.181G>A MANE Select ENSP00000478561.1:p.Gly61Arg
ENST00000490576.1:c.181G>A ENSP00000478839.1:p.Gly61Arg
ENST00000494864.1:c.-70-3898G>A ENSP00000479876.1:n.-70-3898G>A
ENST00000610745.4:c.181G>A ENSP00000478561.1:p.Gly61Arg
ENST00000613082.1:n.375+572G>A
ENST00000614273.1:c.181G>A ENSP00000483678.1:p.Gly61Arg
NM_000104.3:c.181G>A NP_000095.2:p.Gly61Arg
NM_000104.4:c.181G>A MANE Select NP_000095.2:p.Gly61Arg
Search 100 bp 5'
Search 100 bp 3'