Canonical Allele Identifier: CA351886301

Gene: RARB

Linked Data

• ClinVar Variation Id: 2430936
• ClinVar RCV Id: RCV003129469
• MyVariant Identifiers: chr3:g.25635055T>C (hg19) ; chr3:g.25593564T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.25593564T>C , CM000665.2:g.25593564T>C	GRCh38
NC_000003.11:g.25635055T>C , CM000665.1:g.25635055T>C	GRCh37
NC_000003.10:g.25610059T>C	NCBI36
NG_029013.1:g.170302T>C
NG_029013.3:g.769242T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383772.9:c.869T>C	ENSP00000373282.5:p.Leu290Pro
ENST00000437042.7:c.512T>C	ENSP00000398840.2:p.Leu171Pro
ENST00000458646.2:c.512T>C	ENSP00000391391.1:p.Leu171Pro
ENST00000462272.6:n.793T>C
ENST00000479097.6:c.*237T>C	ENSP00000508755.1:n.*237T>C
ENST00000480001.6:c.787-956T>C	ENSP00000510647.1:n.787-956T>C
ENST00000685523.1:c.*684T>C	ENSP00000508765.1:n.*684T>C
ENST00000686715.1:c.869T>C	ENSP00000510539.1:p.Leu290Pro
ENST00000687083.1:c.787-2856T>C	ENSP00000509681.1:n.787-2856T>C
ENST00000687353.1:c.869T>C	ENSP00000508588.1:p.Leu290Pro
ENST00000687676.1:c.869T>C	ENSP00000510313.1:p.Leu290Pro
ENST00000688892.1:c.869T>C	ENSP00000510650.1:p.Leu290Pro
ENST00000689700.1:c.594T>C	ENSP00000510200.1:n.594T>C
ENST00000690398.1:c.*463T>C	ENSP00000510044.1:n.*463T>C
ENST00000691580.1:c.677T>C
ENST00000691912.1:c.787-77T>C	ENSP00000510520.1:n.787-77T>C
ENST00000693261.1:c.512T>C	ENSP00000508421.1:p.Leu171Pro
ENST00000693580.1:c.304-956T>C	ENSP00000510405.1:n.304-956T>C
ENST00000330688.9:c.848T>C MANE Select	ENSP00000332296.4:p.Leu283Pro
ENST00000330688.8:c.848T>C	ENSP00000332296.4:p.Leu283Pro
ENST00000383772.8:c.869T>C	ENSP00000373282.4:p.Leu290Pro
ENST00000437042.6:c.512T>C	ENSP00000398840.2:p.Leu171Pro
ENST00000458646.1:c.512T>C	ENSP00000391391.1:p.Leu171Pro
ENST00000462272.5:n.803-77T>C
ENST00000479097.5:n.703T>C
ENST00000480001.5:n.803-956T>C
NM_000965.4:c.848T>C	NP_000956.2:p.Leu283Pro
NM_001290216.1:c.869T>C	NP_001277145.1:p.Leu290Pro
NM_001290217.1:c.512T>C	NP_001277146.1:p.Leu171Pro
NM_001290266.1:c.701T>C	NP_001277195.1:p.Leu234Pro
NM_001290276.1:c.512T>C	NP_001277205.1:p.Leu171Pro
NM_001290277.1:c.787-77T>C	NP_001277206.1:n.787-77T>C
NM_001290300.1:c.719T>C	NP_001277229.1:p.Leu240Pro
NM_016152.3:c.512T>C	NP_057236.1:p.Leu171Pro
NR_110892.1:n.1156T>C
NR_110893.1:n.1256-956T>C
NM_001290216.2:c.869T>C	NP_001277145.1:p.Leu290Pro
NM_000965.5:c.848T>C MANE Select	NP_000956.2:p.Leu283Pro
NM_001290216.3:c.869T>C	NP_001277145.1:p.Leu290Pro
NM_001290217.2:c.512T>C	NP_001277146.1:p.Leu171Pro
NM_001290266.2:c.701T>C	NP_001277195.1:p.Leu234Pro
NM_001290276.2:c.512T>C	NP_001277205.1:p.Leu171Pro
NM_001290300.2:c.719T>C	NP_001277229.1:p.Leu240Pro
NM_016152.4:c.512T>C	NP_057236.1:p.Leu171Pro
NR_110892.2:n.1156T>C
NR_110893.2:n.1256-956T>C