Canonical Allele Identifier: CA410935633

Gene: SMARCB1

Linked Data

• dbSNP Id: rs121434496
• MyVariant Identifiers: chr22:g.24145525C>A (hg19) ; chr22:g.23803338C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23803338C>A , CM000684.2:g.23803338C>A	GRCh38
NC_000022.10:g.24145525C>A , CM000684.1:g.24145525C>A	GRCh37
NC_000022.9:g.22475525C>A	NCBI36
NG_009303.1:g.21376C>A , LRG_520:g.21376C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000263121.12:c.406C>A	ENSP00000263121.8:p.Gln136Lys
ENST00000344921.11:c.571C>A	ENSP00000340883.6:p.Gln191Lys
ENST00000407082.4:c.379C>A	ENSP00000385226.4:p.Gln127Lys
ENST00000407422.8:c.517C>A	ENSP00000383984.3:p.Gln173Lys
ENST00000417137.6:c.598C>A	ENSP00000388489.2:p.Gln200Lys
ENST00000642275.1:n.792C>A
ENST00000642727.1:c.710C>A	ENSP00000495144.1:n.710C>A
ENST00000643421.1:n.512C>A
ENST00000644036.2:c.544C>A MANE Select	ENSP00000494049.2:p.Gln182Lys
ENST00000644462.1:c.1262C>A	ENSP00000494283.1:n.1262C>A
ENST00000644467.1:n.1338C>A
ENST00000644619.1:c.*611C>A	ENSP00000494695.1:n.*611C>A
ENST00000646723.1:n.2745C>A
ENST00000646911.1:n.456C>A
ENST00000647057.1:c.*38C>A	ENSP00000494757.1:n.*38C>A
ENST00000263121.11:c.544C>A	ENSP00000263121.7:p.Gln182Lys
ENST00000344921.10:c.571C>A	ENSP00000340883.6:p.Gln191Lys
ENST00000407082.3:c.406C>A	ENSP00000385226.3:p.Gln136Lys
ENST00000407422.7:c.517C>A	ENSP00000383984.3:p.Gln173Lys
ENST00000417137.5:c.598C>A	ENSP00000388489.1:p.Gln200Lys
NM_001007468.1:c.517C>A	NP_001007469.1:p.Gln173Lys
NM_003073.3:c.544C>A , LRG_520t1:c.544C>A	NP_003064.2:p.Gln182Lys
XM_011530345.1:c.598C>A	XP_011528647.1:p.Gln200Lys
XM_011530346.1:c.571C>A	XP_011528648.1:p.Gln191Lys
NM_001007468.2:c.517C>A	NP_001007469.1:p.Gln173Lys
NM_001317946.1:c.571C>A	NP_001304875.1:p.Gln191Lys
NM_001362877.1:c.598C>A	NP_001349806.1:p.Gln200Lys
NM_003073.4:c.544C>A	NP_003064.2:p.Gln182Lys
NM_001007468.3:c.517C>A	NP_001007469.1:p.Gln173Lys
NM_001317946.2:c.571C>A	NP_001304875.1:p.Gln191Lys
NM_001362877.2:c.598C>A	NP_001349806.1:p.Gln200Lys
NM_003073.5:c.544C>A MANE Select	NP_003064.2:p.Gln182Lys