Canonical Allele Identifier: CA346327066
Gene: CYP1B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38070874T>A , CM000664.2:g.38070874T>A GRCh38
NC_000002.11:g.38298017T>A , CM000664.1:g.38298017T>A GRCh37
NC_000002.10:g.38151521T>A NCBI36
NG_008386.2:g.10228A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000490576.2:c.1480A>T ENSP00000478839.2:p.Arg494Trp
ENST00000610745.5:c.1480A>T MANE Select ENSP00000478561.1:p.Arg494Trp
ENST00000494864.1:c.367A>T ENSP00000479876.1:p.Arg123Trp
ENST00000610745.4:c.1480A>T ENSP00000478561.1:p.Arg494Trp
ENST00000614273.1:c.1480A>T ENSP00000483678.1:p.Arg494Trp
NM_000104.3:c.1480A>T NP_000095.2:p.Arg494Trp
NM_000104.4:c.1480A>T MANE Select NP_000095.2:p.Arg494Trp