Canonical Allele Identifier: CA346327484
Gene: CYP1B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38071074A>G , CM000664.2:g.38071074A>G GRCh38
NC_000002.11:g.38298217A>G , CM000664.1:g.38298217A>G GRCh37
NC_000002.10:g.38151721A>G NCBI36
NG_008386.2:g.10028T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.1280T>C ENSP00000478839.2:p.Val427Ala
ENST00000610745.5:c.1280T>C MANE Select ENSP00000478561.1:p.Val427Ala
ENST00000492443.1:n.658T>C
ENST00000494864.1:c.167T>C ENSP00000479876.1:p.Val56Ala
ENST00000610745.4:c.1280T>C ENSP00000478561.1:p.Val427Ala
ENST00000614273.1:c.1280T>C ENSP00000483678.1:p.Val427Ala
NM_000104.3:c.1280T>C NP_000095.2:p.Val427Ala
NM_000104.4:c.1280T>C MANE Select NP_000095.2:p.Val427Ala