Canonical Allele Identifier: CA145184
Gene: CYP1B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 68468
ClinVar RCV Id: RCV000059339 RCV000363659 RCV000778615 RCV002228326 RCV002490665 RCV002279933 RCV003466930
dbSNP Id: rs587778875
ExAC: 2:38301663 C / CG
gnomAD v2: 2-38301663-C-CG
gnomAD v3: 2-38074520-C-CG
gnomAD v4: 2-38074520-C-CG
COSMIC: COSM293627
MyVariant Identifiers: chr2:g.38301664dupG (hg19) chr2:g.38301663_38301664insG (hg19) chr2:g.38074521dupG (hg38) chr2:g.38074520_38074521insG (hg38)
PubMed: PMID:24281366
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38074526dup , CM000664.2:g.38074526dup GRCh38
NC_000002.11:g.38301669dup , CM000664.1:g.38301669dup GRCh37
NC_000002.10:g.38155173dup NCBI36
NG_008386.2:g.6581dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.868dup ENSP00000478839.2:p.Arg290ProfsTer?
ENST00000610745.5:c.868dup MANE Select ENSP00000478561.1:p.Arg290ProfsTer?
ENST00000494864.1:c.-70-3211dup ENSP00000479876.1:n.-70-3211dup
ENST00000610745.4:c.868dup ENSP00000478561.1:p.Arg290ProfsTer?
ENST00000613082.1:n.376-113dup
ENST00000614273.1:c.868dup ENSP00000483678.1:p.Arg290ProfsTer?
NM_000104.3:c.868dup NP_000095.2:p.Arg290ProfsTer?
NM_000104.4:c.868dup MANE Select NP_000095.2:p.Arg290ProfsTer?
Search 100 bp 5'
Search 100 bp 3'