Canonical Allele Identifier: CA2580099262

Gene: SMARCB1

Linked Data

• ClinVar Variation Id: 1993541
• ClinVar RCV Id: RCV002801475

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23803282A>C , CM000684.2:g.23803282A>C	GRCh38
NC_000022.10:g.24145469A>C , CM000684.1:g.24145469A>C	GRCh37
NC_000022.9:g.22475469A>C	NCBI36
NG_009303.1:g.21320A>C , LRG_520:g.21320A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000263121.12:c.363-13A>C	ENSP00000263121.8:n.363-13A>C
ENST00000344921.11:c.528-13A>C	ENSP00000340883.6:n.528-13A>C
ENST00000407082.4:c.336-13A>C	ENSP00000385226.4:n.336-13A>C
ENST00000407422.8:c.474-13A>C	ENSP00000383984.3:n.474-13A>C
ENST00000417137.6:c.555-13A>C	ENSP00000388489.2:n.555-13A>C
ENST00000642275.1:n.736A>C
ENST00000642727.1:c.667-13A>C	ENSP00000495144.1:n.667-13A>C
ENST00000643421.1:n.469-13A>C
ENST00000644036.2:c.501-13A>C MANE Select	ENSP00000494049.2:n.501-13A>C
ENST00000644462.1:c.1219-13A>C	ENSP00000494283.1:n.1219-13A>C
ENST00000644467.1:n.1282A>C
ENST00000644619.1:c.*568-13A>C	ENSP00000494695.1:n.*568-13A>C
ENST00000646723.1:n.2689A>C
ENST00000646911.1:n.413-13A>C
ENST00000647057.1:c.232-13A>C	ENSP00000494757.1:n.232-13A>C
ENST00000263121.11:c.501-13A>C	ENSP00000263121.7:n.501-13A>C
ENST00000344921.10:c.528-13A>C	ENSP00000340883.6:n.528-13A>C
ENST00000407082.3:c.363-13A>C	ENSP00000385226.3:n.363-13A>C
ENST00000407422.7:c.474-13A>C	ENSP00000383984.3:n.474-13A>C
ENST00000417137.5:c.555-13A>C	ENSP00000388489.1:n.555-13A>C
ENST00000634926.1:c.242-13A>C
ENST00000635578.1:c.215-13A>C
NM_001007468.1:c.474-13A>C	NP_001007469.1:n.474-13A>C
NM_003073.3:c.501-13A>C , LRG_520t1:c.501-13A>C	NP_003064.2:n.501-13A>C
XM_011530345.1:c.555-13A>C	XP_011528647.1:n.555-13A>C
XM_011530346.1:c.528-13A>C	XP_011528648.1:n.528-13A>C
NM_001007468.2:c.474-13A>C	NP_001007469.1:n.474-13A>C
NM_001317946.1:c.528-13A>C	NP_001304875.1:n.528-13A>C
NM_001362877.1:c.555-13A>C	NP_001349806.1:n.555-13A>C
NM_003073.4:c.501-13A>C	NP_003064.2:n.501-13A>C
NM_001007468.3:c.474-13A>C	NP_001007469.1:n.474-13A>C
NM_001317946.2:c.528-13A>C	NP_001304875.1:n.528-13A>C
NM_001362877.2:c.555-13A>C	NP_001349806.1:n.555-13A>C
NM_003073.5:c.501-13A>C MANE Select	NP_003064.2:n.501-13A>C