Canonical Allele Identifier: CA346327649
Gene: CYP1B1 HGNC NCBI

Linked Data

dbSNP Id: rs1682425516
gnomAD v3: 2-38071153-G-A
gnomAD v4: 2-38071153-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38071153G>A , CM000664.2:g.38071153G>A GRCh38
NC_000002.11:g.38298296G>A , CM000664.1:g.38298296G>A GRCh37
NC_000002.10:g.38151800G>A NCBI36
NG_008386.2:g.9949C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.1201C>T ENSP00000478839.2:p.His401Tyr
ENST00000610745.5:c.1201C>T MANE Select ENSP00000478561.1:p.His401Tyr
ENST00000492443.1:n.579C>T
ENST00000494864.1:c.88C>T ENSP00000479876.1:p.His30Tyr
ENST00000610745.4:c.1201C>T ENSP00000478561.1:p.His401Tyr
ENST00000614273.1:c.1201C>T ENSP00000483678.1:p.His401Tyr
NM_000104.3:c.1201C>T NP_000095.2:p.His401Tyr
NM_000104.4:c.1201C>T MANE Select NP_000095.2:p.His401Tyr