Canonical Allele Identifier: CA2573054983

Gene: SMARCB1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23801968G>A , CM000684.2:g.23801968G>A	GRCh38
NC_000022.10:g.24144155G>A , CM000684.1:g.24144155G>A	GRCh37
NC_000022.9:g.22474155G>A	NCBI36
NG_009303.1:g.20006G>A , LRG_520:g.20006G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003073.5:c.500+887G>A MANE Select	NP_003064.2:n.500+887G>A
ENST00000644036.2:c.500+887G>A MANE Select	ENSP00000494049.2:n.500+887G>A
NM_001007468.1:c.473+887G>A	NP_001007469.1:n.473+887G>A
NM_001007468.2:c.473+887G>A	NP_001007469.1:n.473+887G>A
NM_001007468.3:c.473+887G>A	NP_001007469.1:n.473+887G>A
NM_001317946.1:c.527+833G>A	NP_001304875.1:n.527+833G>A
NM_001317946.2:c.527+833G>A	NP_001304875.1:n.527+833G>A
NM_001362877.1:c.554+833G>A	NP_001349806.1:n.554+833G>A
NM_001362877.2:c.554+833G>A	NP_001349806.1:n.554+833G>A
NM_003073.3:c.500+887G>A , LRG_520t1:c.500+887G>A	NP_003064.2:n.500+887G>A
NM_003073.4:c.500+887G>A	NP_003064.2:n.500+887G>A
ENST00000263121.11:c.500+887G>A	ENSP00000263121.7:n.500+887G>A
ENST00000263121.12:c.363-1327G>A	ENSP00000263121.8:n.363-1327G>A
ENST00000344921.10:c.527+833G>A	ENSP00000340883.6:n.527+833G>A
ENST00000344921.11:c.527+833G>A	ENSP00000340883.6:n.527+833G>A
ENST00000407082.3:c.363-1327G>A	ENSP00000385226.3:n.363-1327G>A
ENST00000407082.4:c.336-1327G>A	ENSP00000385226.4:n.336-1327G>A
ENST00000407422.7:c.473+887G>A	ENSP00000383984.3:n.473+887G>A
ENST00000407422.8:c.473+887G>A	ENSP00000383984.3:n.473+887G>A
ENST00000417137.5:c.554+833G>A	ENSP00000388489.1:n.554+833G>A
ENST00000417137.6:c.554+833G>A	ENSP00000388489.2:n.554+833G>A
ENST00000491967.2:n.1550G>A
ENST00000634926.1:c.241+998G>A
ENST00000635578.1:c.214+998G>A
ENST00000642727.1:c.666+4G>A	ENSP00000495144.1:n.666+4G>A
ENST00000643421.1:n.468+887G>A
ENST00000644462.1:c.1218+4G>A	ENSP00000494283.1:n.1218+4G>A
ENST00000644619.1:c.*567+4G>A	ENSP00000494695.1:n.*567+4G>A
ENST00000646421.1:n.3243G>A
ENST00000646723.1:n.1375G>A
ENST00000646911.1:n.412+887G>A
ENST00000647057.1:c.231+887G>A	ENSP00000494757.1:n.231+887G>A
XM_011530345.1:c.554+833G>A	XP_011528647.1:n.554+833G>A
XM_011530346.1:c.527+833G>A	XP_011528648.1:n.527+833G>A