Canonical Allele Identifier: CA145182
Gene: CYP1B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 7744
dbSNP Id: rs9282671
gnomAD v2: 2-38302291-A-T
gnomAD v3: 2-38075148-A-T
gnomAD v4: 2-38075148-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075148A>T , CM000664.2:g.38075148A>T GRCh38
NC_000002.11:g.38302291A>T , CM000664.1:g.38302291A>T GRCh37
NC_000002.10:g.38155795A>T NCBI36
NG_008386.2:g.5954T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.241T>A ENSP00000478839.2:p.Tyr81Asn
ENST00000610745.5:c.241T>A MANE Select ENSP00000478561.1:p.Tyr81Asn
ENST00000490576.1:c.241T>A ENSP00000478839.1:p.Tyr81Asn
ENST00000494864.1:c.-70-3838T>A ENSP00000479876.1:n.-70-3838T>A
ENST00000610745.4:c.241T>A ENSP00000478561.1:p.Tyr81Asn
ENST00000613082.1:n.375+632T>A
ENST00000614273.1:c.241T>A ENSP00000483678.1:p.Tyr81Asn
NM_000104.3:c.241T>A NP_000095.2:p.Tyr81Asn
NM_000104.4:c.241T>A MANE Select NP_000095.2:p.Tyr81Asn