Canonical Allele Identifier: CA1619847
Gene: CYP1B1 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38071186G>A , CM000664.2:g.38071186G>A GRCh38
NC_000002.11:g.38298329G>A , CM000664.1:g.38298329G>A GRCh37
NC_000002.10:g.38151833G>A NCBI36
NG_008386.2:g.9916C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.1168C>T ENSP00000478839.2:p.Arg390Cys
ENST00000610745.5:c.1168C>T MANE Select ENSP00000478561.1:p.Arg390Cys
ENST00000492443.1:n.546C>T
ENST00000494864.1:c.55C>T ENSP00000479876.1:p.Arg19Cys
ENST00000610745.4:c.1168C>T ENSP00000478561.1:p.Arg390Cys
ENST00000613082.1:n.563C>T
ENST00000614273.1:c.1168C>T ENSP00000483678.1:p.Arg390Cys
NM_000104.3:c.1168C>T NP_000095.2:p.Arg390Cys
NM_000104.4:c.1168C>T MANE Select NP_000095.2:p.Arg390Cys