Canonical Allele Identifier: CA346329251
Gene: CYP1B1 HGNC NCBI

Linked Data

gnomAD v4: 2-38074950-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38074950C>T , CM000664.2:g.38074950C>T GRCh38
NC_000002.11:g.38302093C>T , CM000664.1:g.38302093C>T GRCh37
NC_000002.10:g.38155597C>T NCBI36
NG_008386.2:g.6152G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.439G>A ENSP00000478839.2:p.Ala147Thr
ENST00000610745.5:c.439G>A MANE Select ENSP00000478561.1:p.Ala147Thr
ENST00000494864.1:c.-70-3640G>A ENSP00000479876.1:n.-70-3640G>A
ENST00000610745.4:c.439G>A ENSP00000478561.1:p.Ala147Thr
ENST00000613082.1:n.376-542G>A
ENST00000614273.1:c.439G>A ENSP00000483678.1:p.Ala147Thr
NM_000104.3:c.439G>A NP_000095.2:p.Ala147Thr
NM_000104.4:c.439G>A MANE Select NP_000095.2:p.Ala147Thr