Canonical Allele Identifier: CA2697548006
Gene: CYP1B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2768652
ClinVar RCV Id: RCV003594524
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075146del , CM000664.2:g.38075146del GRCh38
NC_000002.11:g.38302289del , CM000664.1:g.38302289del GRCh37
NC_000002.10:g.38155793del NCBI36
NG_008386.2:g.5956del

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.243del ENSP00000478839.2:p.Tyr81Ter
ENST00000610745.5:c.243del MANE Select ENSP00000478561.1:p.Tyr81Ter
ENST00000490576.1:c.243del ENSP00000478839.1:p.Tyr81Ter
ENST00000494864.1:c.-70-3836del ENSP00000479876.1:n.-70-3836del
ENST00000610745.4:c.243del ENSP00000478561.1:p.Tyr81Ter
ENST00000613082.1:n.375+634del
ENST00000614273.1:c.243del ENSP00000483678.1:p.Tyr81Ter
NM_000104.3:c.243del NP_000095.2:p.Tyr81Ter
NM_000104.4:c.243del MANE Select NP_000095.2:p.Tyr81Ter
Search 100 bp 5'
Search 100 bp 3'