Canonical Allele Identifier: CA10145984

Gene: SMARCB1

Linked Data

• ClinVar Variation Id: 943410
• ClinVar RCV Id: RCV001213593
• dbSNP Id: rs779221331
• ExAC: 22:24145482 C / T
• gnomAD v2: 22-24145482-C-T
• gnomAD v4: 22-23803295-C-T
• MyVariant Identifiers: chr22:g.24145482C>T (hg19) ; chr22:g.23803295C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23803295C>T , CM000684.2:g.23803295C>T	GRCh38
NC_000022.10:g.24145482C>T , CM000684.1:g.24145482C>T	GRCh37
NC_000022.9:g.22475482C>T	NCBI36
NG_009303.1:g.21333C>T , LRG_520:g.21333C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263121.12:c.363C>T	ENSP00000263121.8:p.Ser121=
ENST00000344921.11:c.528C>T	ENSP00000340883.6:p.His176=
ENST00000407082.4:c.336C>T	ENSP00000385226.4:p.Ser112=
ENST00000407422.8:c.474C>T	ENSP00000383984.3:p.Cys158=
ENST00000417137.6:c.555C>T	ENSP00000388489.2:p.His185=
ENST00000642275.1:n.749C>T
ENST00000642727.1:c.667C>T	ENSP00000495144.1:n.667C>T
ENST00000643421.1:n.469C>T
ENST00000644036.2:c.501C>T MANE Select	ENSP00000494049.2:p.Cys167=
ENST00000644462.1:c.1219C>T	ENSP00000494283.1:n.1219C>T
ENST00000644467.1:n.1295C>T
ENST00000644619.1:c.*568C>T	ENSP00000494695.1:n.*568C>T
ENST00000646723.1:n.2702C>T
ENST00000646911.1:n.413C>T
ENST00000647057.1:c.232C>T	ENSP00000494757.1:p.Leu78Phe
ENST00000263121.11:c.501C>T	ENSP00000263121.7:p.Cys167=
ENST00000344921.10:c.528C>T	ENSP00000340883.6:p.His176=
ENST00000407082.3:c.363C>T	ENSP00000385226.3:p.Ser121=
ENST00000407422.7:c.474C>T	ENSP00000383984.3:p.Cys158=
ENST00000417137.5:c.555C>T	ENSP00000388489.1:p.His185=
ENST00000634926.1:c.242C>T
ENST00000635578.1:c.215C>T
NM_001007468.1:c.474C>T	NP_001007469.1:p.Cys158=
NM_003073.3:c.501C>T , LRG_520t1:c.501C>T	NP_003064.2:p.Cys167=
XM_011530345.1:c.555C>T	XP_011528647.1:p.His185=
XM_011530346.1:c.528C>T	XP_011528648.1:p.His176=
NM_001007468.2:c.474C>T	NP_001007469.1:p.Cys158=
NM_001317946.1:c.528C>T	NP_001304875.1:p.His176=
NM_001362877.1:c.555C>T	NP_001349806.1:p.His185=
NM_003073.4:c.501C>T	NP_003064.2:p.Cys167=
NM_001007468.3:c.474C>T	NP_001007469.1:p.Cys158=
NM_001317946.2:c.528C>T	NP_001304875.1:p.His176=
NM_001362877.2:c.555C>T	NP_001349806.1:p.His185=
NM_003073.5:c.501C>T MANE Select	NP_003064.2:p.Cys167=