Canonical Allele Identifier: CA410914720

Gene: SMARCB1

Linked Data

• ClinVar Variation Id: 623977
• ClinVar RCV Id: RCV000762051 ; RCV002458370
• dbSNP Id: rs1387467529
• COSMIC: COSM5574330
• MyVariant Identifiers: chr22:g.24176351C>G (hg19) ; chr22:g.23834164C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834164C>G , CM000684.2:g.23834164C>G	GRCh38
NC_000022.10:g.24176351C>G , CM000684.1:g.24176351C>G	GRCh37
NC_000022.9:g.22506351C>G	NCBI36
NG_009303.1:g.52202C>G , LRG_520:g.52202C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.1004C>G	ENSP00000263121.8:p.Thr335Arg
ENST00000344921.11:c.1169C>G	ENSP00000340883.6:p.Thr390Arg
ENST00000407422.8:c.1115C>G	ENSP00000383984.3:p.Thr372Arg
ENST00000644036.2:c.1142C>G MANE Select	ENSP00000494049.2:p.Thr381Arg
ENST00000644462.1:c.1860C>G	ENSP00000494283.1:n.1860C>G
ENST00000645799.1:n.2464C>G
ENST00000646723.1:n.3488C>G
ENST00000647057.1:c.*636C>G	ENSP00000494757.1:n.*636C>G
ENST00000263121.11:c.1142C>G	ENSP00000263121.7:p.Thr381Arg
ENST00000344921.10:c.1169C>G	ENSP00000340883.6:p.Thr390Arg
ENST00000407082.3:c.1004C>G	ENSP00000385226.3:p.Thr335Arg
ENST00000407422.7:c.1115C>G	ENSP00000383984.3:p.Thr372Arg
NM_001007468.1:c.1115C>G	NP_001007469.1:p.Thr372Arg
NM_003073.3:c.1142C>G , LRG_520t1:c.1142C>G	NP_003064.2:p.Thr381Arg
XM_011530345.1:c.1196C>G	XP_011528647.1:p.Thr399Arg
XM_011530346.1:c.1169C>G	XP_011528648.1:p.Thr390Arg
NM_001007468.2:c.1115C>G	NP_001007469.1:p.Thr372Arg
NM_001317946.1:c.1169C>G	NP_001304875.1:p.Thr390Arg
NM_001362877.1:c.1196C>G	NP_001349806.1:p.Thr399Arg
NM_003073.4:c.1142C>G	NP_003064.2:p.Thr381Arg
NM_001007468.3:c.1115C>G	NP_001007469.1:p.Thr372Arg
NM_001317946.2:c.1169C>G	NP_001304875.1:p.Thr390Arg
NM_001362877.2:c.1196C>G	NP_001349806.1:p.Thr399Arg
NM_003073.5:c.1142C>G MANE Select	NP_003064.2:p.Thr381Arg