Canonical Allele Identifier: CA410913469

Gene: SMARCB1

Linked Data

• ClinVar Variation Id: 1780323
• ClinVar RCV Id: RCV002407840
• dbSNP Id: rs2146042371
• MyVariant Identifiers: chr22:g.24175833A>G (hg19) ; chr22:g.23833646A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23833646A>G , CM000684.2:g.23833646A>G	GRCh38
NC_000022.10:g.24175833A>G , CM000684.1:g.24175833A>G	GRCh37
NC_000022.9:g.22505833A>G	NCBI36
NG_009303.1:g.51684A>G , LRG_520:g.51684A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.923A>G	ENSP00000263121.8:p.Glu308Gly
ENST00000344921.11:c.1088A>G	ENSP00000340883.6:p.Glu363Gly
ENST00000407422.8:c.1034A>G	ENSP00000383984.3:p.Glu345Gly
ENST00000644036.2:c.1061A>G MANE Select	ENSP00000494049.2:p.Glu354Gly
ENST00000644462.1:c.1779A>G	ENSP00000494283.1:n.1779A>G
ENST00000645799.1:n.2383A>G
ENST00000646723.1:n.3407A>G
ENST00000647057.1:c.*555A>G	ENSP00000494757.1:n.*555A>G
ENST00000263121.11:c.1061A>G	ENSP00000263121.7:p.Glu354Gly
ENST00000344921.10:c.1088A>G	ENSP00000340883.6:p.Glu363Gly
ENST00000407082.3:c.923A>G	ENSP00000385226.3:p.Glu308Gly
ENST00000407422.7:c.1034A>G	ENSP00000383984.3:p.Glu345Gly
NM_001007468.1:c.1034A>G	NP_001007469.1:p.Glu345Gly
NM_003073.3:c.1061A>G , LRG_520t1:c.1061A>G	NP_003064.2:p.Glu354Gly
XM_011530345.1:c.1115A>G	XP_011528647.1:p.Glu372Gly
XM_011530346.1:c.1088A>G	XP_011528648.1:p.Glu363Gly
NM_001007468.2:c.1034A>G	NP_001007469.1:p.Glu345Gly
NM_001317946.1:c.1088A>G	NP_001304875.1:p.Glu363Gly
NM_001362877.1:c.1115A>G	NP_001349806.1:p.Glu372Gly
NM_003073.4:c.1061A>G	NP_003064.2:p.Glu354Gly
NM_001007468.3:c.1034A>G	NP_001007469.1:p.Glu345Gly
NM_001317946.2:c.1088A>G	NP_001304875.1:p.Glu363Gly
NM_001362877.2:c.1115A>G	NP_001349806.1:p.Glu372Gly
NM_003073.5:c.1061A>G MANE Select	NP_003064.2:p.Glu354Gly