Canonical Allele Identifier: CA410935904

Gene: SMARCB1

Linked Data

• MyVariant Identifiers: chr22:g.24145570G>C (hg19) ; chr22:g.23803383G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23803383G>C , CM000684.2:g.23803383G>C	GRCh38
NC_000022.10:g.24145570G>C , CM000684.1:g.24145570G>C	GRCh37
NC_000022.9:g.22475570G>C	NCBI36
NG_009303.1:g.21421G>C , LRG_520:g.21421G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000263121.12:c.451G>C	ENSP00000263121.8:p.Gly151Arg
ENST00000344921.11:c.616G>C	ENSP00000340883.6:p.Gly206Arg
ENST00000407082.4:c.424G>C	ENSP00000385226.4:p.Gly142Arg
ENST00000407422.8:c.562G>C	ENSP00000383984.3:p.Gly188Arg
ENST00000417137.6:c.643G>C	ENSP00000388489.2:p.Gly215Arg
ENST00000642275.1:n.837G>C
ENST00000642727.1:c.755G>C	ENSP00000495144.1:n.755G>C
ENST00000643421.1:n.557G>C
ENST00000644036.2:c.589G>C MANE Select	ENSP00000494049.2:p.Gly197Arg
ENST00000644462.1:c.1307G>C	ENSP00000494283.1:n.1307G>C
ENST00000644467.1:n.1383G>C
ENST00000644619.1:c.*656G>C	ENSP00000494695.1:n.*656G>C
ENST00000646723.1:n.2790G>C
ENST00000646911.1:n.501G>C
ENST00000647057.1:c.*83G>C	ENSP00000494757.1:n.*83G>C
ENST00000263121.11:c.589G>C	ENSP00000263121.7:p.Gly197Arg
ENST00000344921.10:c.616G>C	ENSP00000340883.6:p.Gly206Arg
ENST00000407082.3:c.451G>C	ENSP00000385226.3:p.Gly151Arg
ENST00000407422.7:c.562G>C	ENSP00000383984.3:p.Gly188Arg
ENST00000417137.5:c.643G>C	ENSP00000388489.1:p.Gly215Arg
NM_001007468.1:c.562G>C	NP_001007469.1:p.Gly188Arg
NM_003073.3:c.589G>C , LRG_520t1:c.589G>C	NP_003064.2:p.Gly197Arg
XM_011530345.1:c.643G>C	XP_011528647.1:p.Gly215Arg
XM_011530346.1:c.616G>C	XP_011528648.1:p.Gly206Arg
NM_001007468.2:c.562G>C	NP_001007469.1:p.Gly188Arg
NM_001317946.1:c.616G>C	NP_001304875.1:p.Gly206Arg
NM_001362877.1:c.643G>C	NP_001349806.1:p.Gly215Arg
NM_003073.4:c.589G>C	NP_003064.2:p.Gly197Arg
NM_001007468.3:c.562G>C	NP_001007469.1:p.Gly188Arg
NM_001317946.2:c.616G>C	NP_001304875.1:p.Gly206Arg
NM_001362877.2:c.643G>C	NP_001349806.1:p.Gly215Arg
NM_003073.5:c.589G>C MANE Select	NP_003064.2:p.Gly197Arg