Canonical Allele Identifier: CA346327045
Gene: CYP1B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38070864G>T , CM000664.2:g.38070864G>T GRCh38
NC_000002.11:g.38298007G>T , CM000664.1:g.38298007G>T GRCh37
NC_000002.10:g.38151511G>T NCBI36
NG_008386.2:g.10238C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.1490C>A ENSP00000478839.2:p.Pro497Gln
ENST00000610745.5:c.1490C>A MANE Select ENSP00000478561.1:p.Pro497Gln
ENST00000494864.1:c.377C>A ENSP00000479876.1:p.Pro126Gln
ENST00000610745.4:c.1490C>A ENSP00000478561.1:p.Pro497Gln
ENST00000614273.1:c.1490C>A ENSP00000483678.1:p.Pro497Gln
NM_000104.3:c.1490C>A NP_000095.2:p.Pro497Gln
NM_000104.4:c.1490C>A MANE Select NP_000095.2:p.Pro497Gln