Canonical Allele Identifier: CA346329388
Gene: CYP1B1 HGNC NCBI

Linked Data

gnomAD v4: 2-38075016-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075016C>A , CM000664.2:g.38075016C>A GRCh38
NC_000002.11:g.38302159C>A , CM000664.1:g.38302159C>A GRCh37
NC_000002.10:g.38155663C>A NCBI36
NG_008386.2:g.6086G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.373G>T ENSP00000478839.2:p.Val125Leu
ENST00000610745.5:c.373G>T MANE Select ENSP00000478561.1:p.Val125Leu
ENST00000490576.1:c.373G>T ENSP00000478839.1:p.Val125Leu
ENST00000494864.1:c.-70-3706G>T ENSP00000479876.1:n.-70-3706G>T
ENST00000610745.4:c.373G>T ENSP00000478561.1:p.Val125Leu
ENST00000613082.1:n.376-608G>T
ENST00000614273.1:c.373G>T ENSP00000483678.1:p.Val125Leu
NM_000104.3:c.373G>T NP_000095.2:p.Val125Leu
NM_000104.4:c.373G>T MANE Select NP_000095.2:p.Val125Leu