Canonical Allele Identifier: CA254241
Gene: CYP1B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 7735
dbSNP Id: rs55989760
gnomAD v2: 2-38298338-C-T
gnomAD v3: 2-38071195-C-T
gnomAD v4: 2-38071195-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38071195C>T , CM000664.2:g.38071195C>T GRCh38
NC_000002.11:g.38298338C>T , CM000664.1:g.38298338C>T GRCh37
NC_000002.10:g.38151842C>T NCBI36
NG_008386.2:g.9907G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.1159G>A ENSP00000478839.2:p.Glu387Lys
ENST00000610745.5:c.1159G>A MANE Select ENSP00000478561.1:p.Glu387Lys
ENST00000492443.1:n.537G>A
ENST00000494864.1:c.46G>A ENSP00000479876.1:p.Glu16Lys
ENST00000610745.4:c.1159G>A ENSP00000478561.1:p.Glu387Lys
ENST00000613082.1:n.554G>A
ENST00000614273.1:c.1159G>A ENSP00000483678.1:p.Glu387Lys
NM_000104.3:c.1159G>A NP_000095.2:p.Glu387Lys
NM_000104.4:c.1159G>A MANE Select NP_000095.2:p.Glu387Lys