Canonical Allele Identifier: CA410933755

Gene: SMARCB1

Linked Data

• ClinVar Variation Id: 1719248
• ClinVar RCV Id: RCV002302008
• dbSNP Id: rs2145963983
• MyVariant Identifiers: chr22:g.24135799G>A (hg19) ; chr22:g.23793612G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23793612G>A , CM000684.2:g.23793612G>A	GRCh38
NC_000022.10:g.24135799G>A , CM000684.1:g.24135799G>A	GRCh37
NC_000022.9:g.22465799G>A	NCBI36
NG_009303.1:g.11650G>A , LRG_520:g.11650G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.286G>A	ENSP00000263121.8:p.Val96Met
ENST00000344921.11:c.259G>A	ENSP00000340883.6:p.Val87Met
ENST00000407082.4:c.259G>A	ENSP00000385226.4:p.Val87Met
ENST00000407422.8:c.259G>A	ENSP00000383984.3:p.Val87Met
ENST00000417137.6:c.286G>A	ENSP00000388489.2:p.Val96Met
ENST00000491967.2:n.449G>A
ENST00000643421.1:n.254G>A
ENST00000644036.2:c.286G>A MANE Select	ENSP00000494049.2:p.Val96Met
ENST00000644462.1:c.121G>A	ENSP00000494283.1:p.Val41Met
ENST00000644619.1:c.286G>A	ENSP00000494695.1:p.Val96Met
ENST00000646421.1:n.2142G>A
ENST00000646723.1:n.274G>A
ENST00000646911.1:n.198G>A
ENST00000647057.1:c.93+6350G>A	ENSP00000494757.1:n.93+6350G>A
ENST00000263121.11:c.286G>A	ENSP00000263121.7:p.Val96Met
ENST00000344921.10:c.259G>A	ENSP00000340883.6:p.Val87Met
ENST00000407082.3:c.286G>A	ENSP00000385226.3:p.Val96Met
ENST00000407422.7:c.259G>A	ENSP00000383984.3:p.Val87Met
ENST00000417137.5:c.286G>A	ENSP00000388489.1:p.Val96Met
ENST00000491967.1:n.12G>A
ENST00000634926.1:c.138G>A
ENST00000635578.1:c.111G>A
NM_001007468.1:c.259G>A	NP_001007469.1:p.Val87Met
NM_003073.3:c.286G>A , LRG_520t1:c.286G>A	NP_003064.2:p.Val96Met
XM_011530345.1:c.286G>A	XP_011528647.1:p.Val96Met
XM_011530346.1:c.259G>A	XP_011528648.1:p.Val87Met
NM_001007468.2:c.259G>A	NP_001007469.1:p.Val87Met
NM_001317946.1:c.259G>A	NP_001304875.1:p.Val87Met
NM_001362877.1:c.286G>A	NP_001349806.1:p.Val96Met
NM_003073.4:c.286G>A	NP_003064.2:p.Val96Met
NM_001007468.3:c.259G>A	NP_001007469.1:p.Val87Met
NM_001317946.2:c.259G>A	NP_001304875.1:p.Val87Met
NM_001362877.2:c.286G>A	NP_001349806.1:p.Val96Met
NM_003073.5:c.286G>A MANE Select	NP_003064.2:p.Val96Met