Canonical Allele Identifier: CA346327701
Gene: CYP1B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38071179G>T , CM000664.2:g.38071179G>T GRCh38
NC_000002.11:g.38298322G>T , CM000664.1:g.38298322G>T GRCh37
NC_000002.10:g.38151826G>T NCBI36
NG_008386.2:g.9923C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.1175C>A ENSP00000478839.2:p.Ser392Tyr
ENST00000610745.5:c.1175C>A MANE Select ENSP00000478561.1:p.Ser392Tyr
ENST00000492443.1:n.553C>A
ENST00000494864.1:c.62C>A ENSP00000479876.1:p.Ser21Tyr
ENST00000610745.4:c.1175C>A ENSP00000478561.1:p.Ser392Tyr
ENST00000613082.1:n.570C>A
ENST00000614273.1:c.1175C>A ENSP00000483678.1:p.Ser392Tyr
NM_000104.3:c.1175C>A NP_000095.2:p.Ser392Tyr
NM_000104.4:c.1175C>A MANE Select NP_000095.2:p.Ser392Tyr