Canonical Allele Identifier: CA346329372
Gene: CYP1B1 HGNC NCBI

Linked Data

dbSNP Id: rs1243861259
gnomAD v2: 2-38302149-C-T
gnomAD v3: 2-38075006-C-T
gnomAD v4: 2-38075006-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075006C>T , CM000664.2:g.38075006C>T GRCh38
NC_000002.11:g.38302149C>T , CM000664.1:g.38302149C>T GRCh37
NC_000002.10:g.38155653C>T NCBI36
NG_008386.2:g.6096G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.383G>A ENSP00000478839.2:p.Gly128Asp
ENST00000610745.5:c.383G>A MANE Select ENSP00000478561.1:p.Gly128Asp
ENST00000490576.1:c.383G>A ENSP00000478839.1:p.Gly128Asp
ENST00000494864.1:c.-70-3696G>A ENSP00000479876.1:n.-70-3696G>A
ENST00000610745.4:c.383G>A ENSP00000478561.1:p.Gly128Asp
ENST00000613082.1:n.376-598G>A
ENST00000614273.1:c.383G>A ENSP00000483678.1:p.Gly128Asp
NM_000104.3:c.383G>A NP_000095.2:p.Gly128Asp
NM_000104.4:c.383G>A MANE Select NP_000095.2:p.Gly128Asp