Canonical Allele Identifier: CA346329074
Gene: CYP1B1 HGNC NCBI

Linked Data

gnomAD v4: 2-38074869-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38074869C>T , CM000664.2:g.38074869C>T GRCh38
NC_000002.11:g.38302012C>T , CM000664.1:g.38302012C>T GRCh37
NC_000002.10:g.38155516C>T NCBI36
NG_008386.2:g.6233G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.520G>A ENSP00000478839.2:p.Ala174Thr
ENST00000610745.5:c.520G>A MANE Select ENSP00000478561.1:p.Ala174Thr
ENST00000494864.1:c.-70-3559G>A ENSP00000479876.1:n.-70-3559G>A
ENST00000610745.4:c.520G>A ENSP00000478561.1:p.Ala174Thr
ENST00000613082.1:n.376-461G>A
ENST00000614273.1:c.520G>A ENSP00000483678.1:p.Ala174Thr
NM_000104.3:c.520G>A NP_000095.2:p.Ala174Thr
NM_000104.4:c.520G>A MANE Select NP_000095.2:p.Ala174Thr