Canonical Allele Identifier: CA1139666987

Gene: SMARCB1

Linked Data

• ClinVar Variation Id: 935809
• ClinVar RCV Id: RCV001204478
• dbSNP Id: rs2030789446

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23833637dup , CM000684.2:g.23833637dup	GRCh38
NC_000022.10:g.24175824dup , CM000684.1:g.24175824dup	GRCh37
NC_000022.9:g.22505824dup	NCBI36
NG_009303.1:g.51675dup , LRG_520:g.51675dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.914dup	ENSP00000263121.8:p.Leu306ThrfsTer9
ENST00000344921.11:c.1079dup	ENSP00000340883.6:p.Leu361ThrfsTer9
ENST00000407422.8:c.1025dup	ENSP00000383984.3:p.Leu343ThrfsTer9
ENST00000644036.2:c.1052dup MANE Select	ENSP00000494049.2:p.Leu352ThrfsTer9
ENST00000644462.1:c.1770dup	ENSP00000494283.1:n.1770dup
ENST00000645799.1:n.2374dup
ENST00000646723.1:n.3398dup
ENST00000647057.1:c.*546dup	ENSP00000494757.1:n.*546dup
ENST00000263121.11:c.1052dup	ENSP00000263121.7:p.Leu352ThrfsTer9
ENST00000344921.10:c.1079dup	ENSP00000340883.6:p.Leu361ThrfsTer9
ENST00000407082.3:c.914dup	ENSP00000385226.3:p.Leu306ThrfsTer9
ENST00000407422.7:c.1025dup	ENSP00000383984.3:p.Leu343ThrfsTer9
NM_001007468.1:c.1025dup	NP_001007469.1:p.Leu343ThrfsTer9
NM_003073.3:c.1052dup , LRG_520t1:c.1052dup	NP_003064.2:p.Leu352ThrfsTer9
XM_011530345.1:c.1106dup	XP_011528647.1:p.Leu370ThrfsTer9
XM_011530346.1:c.1079dup	XP_011528648.1:p.Leu361ThrfsTer9
NM_001007468.2:c.1025dup	NP_001007469.1:p.Leu343ThrfsTer9
NM_001317946.1:c.1079dup	NP_001304875.1:p.Leu361ThrfsTer9
NM_001362877.1:c.1106dup	NP_001349806.1:p.Leu370ThrfsTer9
NM_003073.4:c.1052dup	NP_003064.2:p.Leu352ThrfsTer9
NM_001007468.3:c.1025dup	NP_001007469.1:p.Leu343ThrfsTer9
NM_001317946.2:c.1079dup	NP_001304875.1:p.Leu361ThrfsTer9
NM_001362877.2:c.1106dup	NP_001349806.1:p.Leu370ThrfsTer9
NM_003073.5:c.1052dup MANE Select	NP_003064.2:p.Leu352ThrfsTer9