Canonical Allele Identifier: CA346329522
Gene: CYP1B1 HGNC NCBI

Linked Data

gnomAD v4: 2-38075084-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075084G>A , CM000664.2:g.38075084G>A GRCh38
NC_000002.11:g.38302227G>A , CM000664.1:g.38302227G>A GRCh37
NC_000002.10:g.38155731G>A NCBI36
NG_008386.2:g.6018C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.305C>T ENSP00000478839.2:p.Ala102Val
ENST00000610745.5:c.305C>T MANE Select ENSP00000478561.1:p.Ala102Val
ENST00000490576.1:c.305C>T ENSP00000478839.1:p.Ala102Val
ENST00000494864.1:c.-70-3774C>T ENSP00000479876.1:n.-70-3774C>T
ENST00000610745.4:c.305C>T ENSP00000478561.1:p.Ala102Val
ENST00000613082.1:n.376-676C>T
ENST00000614273.1:c.305C>T ENSP00000483678.1:p.Ala102Val
NM_000104.3:c.305C>T NP_000095.2:p.Ala102Val
NM_000104.4:c.305C>T MANE Select NP_000095.2:p.Ala102Val