Canonical Allele Identifier: CA145343

Gene: RARB

Linked Data

• ClinVar Variation Id: 88762
• ClinVar RCV Id: RCV000074412 ; RCV000478782 ; RCV000624675 ; RCV003398657
• dbSNP Id: rs397518483
• COSMIC: COSM5119123
• MyVariant Identifiers: chr3:g.25637919C>T (hg19) ; chr3:g.25596428C>T (hg38)
• PubMed: PMID:17506106 ; PMID:22318625 ; PMID:24075189 ; PMID:25457163 ; PMID:27120018

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.25596428C>T , CM000665.2:g.25596428C>T	GRCh38
NC_000003.11:g.25637919C>T , CM000665.1:g.25637919C>T	GRCh37
NC_000003.10:g.25612923C>T	NCBI36
NG_029013.1:g.173166C>T
NG_029013.3:g.772106C>T
NG_052961.1:g.72945G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383772.9:c.1180C>T	ENSP00000373282.5:p.Arg394Cys
ENST00000437042.7:c.823C>T	ENSP00000398840.2:p.Arg275Cys
ENST00000458646.2:c.823C>T	ENSP00000391391.1:p.Arg275Cys
ENST00000462272.6:n.1104C>T
ENST00000479097.6:c.*548C>T	ENSP00000508755.1:n.*548C>T
ENST00000480001.6:c.*135C>T	ENSP00000510647.1:n.*135C>T
ENST00000685523.1:c.*995C>T	ENSP00000508765.1:n.*995C>T
ENST00000686715.1:c.1180C>T	ENSP00000510539.1:p.Arg394Cys
ENST00000687083.1:c.795C>T	ENSP00000509681.1:p.Ser265=
ENST00000687353.1:c.1180C>T	ENSP00000508588.1:p.Arg394Cys
ENST00000687676.1:c.1180C>T	ENSP00000510313.1:p.Arg394Cys
ENST00000688892.1:c.1180C>T	ENSP00000510650.1:p.Arg394Cys
ENST00000689700.1:c.905C>T	ENSP00000510200.1:n.905C>T
ENST00000690398.1:c.*774C>T	ENSP00000510044.1:n.*774C>T
ENST00000691580.1:c.988C>T
ENST00000691912.1:c.1021C>T	ENSP00000510520.1:p.Arg341Cys
ENST00000693261.1:c.823C>T	ENSP00000508421.1:p.Arg275Cys
ENST00000693580.1:c.471C>T	ENSP00000510405.1:n.471C>T
ENST00000330688.9:c.1159C>T MANE Select	ENSP00000332296.4:p.Arg387Cys
ENST00000330688.8:c.1159C>T	ENSP00000332296.4:p.Arg387Cys
ENST00000383772.8:c.1180C>T	ENSP00000373282.4:p.Arg394Cys
ENST00000437042.6:c.823C>T	ENSP00000398840.2:p.Arg275Cys
ENST00000458646.1:c.823C>T	ENSP00000391391.1:p.Arg275Cys
ENST00000462272.5:n.1037C>T
ENST00000479097.5:n.1014C>T
ENST00000480001.5:n.970C>T
NM_000965.4:c.1159C>T	NP_000956.2:p.Arg387Cys
NM_001290216.1:c.1180C>T	NP_001277145.1:p.Arg394Cys
NM_001290217.1:c.823C>T	NP_001277146.1:p.Arg275Cys
NM_001290266.1:c.1012C>T	NP_001277195.1:p.Arg338Cys
NM_001290276.1:c.823C>T	NP_001277205.1:p.Arg275Cys
NM_001290277.1:c.1021C>T	NP_001277206.1:p.Arg341Cys
NM_001290300.1:c.1030C>T	NP_001277229.1:p.Arg344Cys
NM_016152.3:c.823C>T	NP_057236.1:p.Arg275Cys
NR_110892.1:n.1467C>T
NR_110893.1:n.1423C>T
NM_001290216.2:c.1180C>T	NP_001277145.1:p.Arg394Cys
NM_000965.5:c.1159C>T MANE Select	NP_000956.2:p.Arg387Cys
NM_001290216.3:c.1180C>T	NP_001277145.1:p.Arg394Cys
NM_001290217.2:c.823C>T	NP_001277146.1:p.Arg275Cys
NM_001290266.2:c.1012C>T	NP_001277195.1:p.Arg338Cys
NM_001290276.2:c.823C>T	NP_001277205.1:p.Arg275Cys
NM_001290300.2:c.1030C>T	NP_001277229.1:p.Arg344Cys
NM_016152.4:c.823C>T	NP_057236.1:p.Arg275Cys
NR_110892.2:n.1467C>T
NR_110893.2:n.1423C>T