Canonical Allele Identifier: CA410935432

Gene: SMARCB1

Linked Data

• MyVariant Identifiers: chr22:g.24145489G>T (hg19) ; chr22:g.23803302G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23803302G>T , CM000684.2:g.23803302G>T	GRCh38
NC_000022.10:g.24145489G>T , CM000684.1:g.24145489G>T	GRCh37
NC_000022.9:g.22475489G>T	NCBI36
NG_009303.1:g.21340G>T , LRG_520:g.21340G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263121.12:c.370G>T	ENSP00000263121.8:p.Asp124Tyr
ENST00000344921.11:c.535G>T	ENSP00000340883.6:p.Asp179Tyr
ENST00000407082.4:c.343G>T	ENSP00000385226.4:p.Asp115Tyr
ENST00000407422.8:c.481G>T	ENSP00000383984.3:p.Asp161Tyr
ENST00000417137.6:c.562G>T	ENSP00000388489.2:p.Asp188Tyr
ENST00000642275.1:n.756G>T
ENST00000642727.1:c.674G>T	ENSP00000495144.1:n.674G>T
ENST00000643421.1:n.476G>T
ENST00000644036.2:c.508G>T MANE Select	ENSP00000494049.2:p.Asp170Tyr
ENST00000644462.1:c.1226G>T	ENSP00000494283.1:n.1226G>T
ENST00000644467.1:n.1302G>T
ENST00000644619.1:c.*575G>T	ENSP00000494695.1:n.*575G>T
ENST00000646723.1:n.2709G>T
ENST00000646911.1:n.420G>T
ENST00000647057.1:c.*2G>T	ENSP00000494757.1:n.*2G>T
ENST00000263121.11:c.508G>T	ENSP00000263121.7:p.Asp170Tyr
ENST00000344921.10:c.535G>T	ENSP00000340883.6:p.Asp179Tyr
ENST00000407082.3:c.370G>T	ENSP00000385226.3:p.Asp124Tyr
ENST00000407422.7:c.481G>T	ENSP00000383984.3:p.Asp161Tyr
ENST00000417137.5:c.562G>T	ENSP00000388489.1:p.Asp188Tyr
ENST00000634926.1:c.249G>T
ENST00000635578.1:c.222G>T
NM_001007468.1:c.481G>T	NP_001007469.1:p.Asp161Tyr
NM_003073.3:c.508G>T , LRG_520t1:c.508G>T	NP_003064.2:p.Asp170Tyr
XM_011530345.1:c.562G>T	XP_011528647.1:p.Asp188Tyr
XM_011530346.1:c.535G>T	XP_011528648.1:p.Asp179Tyr
NM_001007468.2:c.481G>T	NP_001007469.1:p.Asp161Tyr
NM_001317946.1:c.535G>T	NP_001304875.1:p.Asp179Tyr
NM_001362877.1:c.562G>T	NP_001349806.1:p.Asp188Tyr
NM_003073.4:c.508G>T	NP_003064.2:p.Asp170Tyr
NM_001007468.3:c.481G>T	NP_001007469.1:p.Asp161Tyr
NM_001317946.2:c.535G>T	NP_001304875.1:p.Asp179Tyr
NM_001362877.2:c.562G>T	NP_001349806.1:p.Asp188Tyr
NM_003073.5:c.508G>T MANE Select	NP_003064.2:p.Asp170Tyr