Canonical Allele Identifier: CA10145985

Gene: SMARCB1

Linked Data

• ClinVar Variation Id: 486501
• ClinVar RCV Id: RCV000567126 ; RCV000864929 ; RCV004553290
• dbSNP Id: rs762656012
• ExAC: 22:24145491 C / T
• gnomAD v2: 22-24145491-C-T
• gnomAD v3: 22-23803304-C-T
• gnomAD v4: 22-23803304-C-T
• COSMIC: COSM3309709 ; COSM3309710
• MyVariant Identifiers: chr22:g.24145491C>T (hg19) ; chr22:g.23803304C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23803304C>T , CM000684.2:g.23803304C>T	GRCh38
NC_000022.10:g.24145491C>T , CM000684.1:g.24145491C>T	GRCh37
NC_000022.9:g.22475491C>T	NCBI36
NG_009303.1:g.21342C>T , LRG_520:g.21342C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.372C>T	ENSP00000263121.8:p.Asp124=
ENST00000344921.11:c.537C>T	ENSP00000340883.6:p.Asp179=
ENST00000407082.4:c.345C>T	ENSP00000385226.4:p.Asp115=
ENST00000407422.8:c.483C>T	ENSP00000383984.3:p.Asp161=
ENST00000417137.6:c.564C>T	ENSP00000388489.2:p.Asp188=
ENST00000642275.1:n.758C>T
ENST00000642727.1:c.676C>T	ENSP00000495144.1:n.676C>T
ENST00000643421.1:n.478C>T
ENST00000644036.2:c.510C>T MANE Select	ENSP00000494049.2:p.Asp170=
ENST00000644462.1:c.1228C>T	ENSP00000494283.1:n.1228C>T
ENST00000644467.1:n.1304C>T
ENST00000644619.1:c.*577C>T	ENSP00000494695.1:n.*577C>T
ENST00000646723.1:n.2711C>T
ENST00000646911.1:n.422C>T
ENST00000647057.1:c.*4C>T	ENSP00000494757.1:n.*4C>T
ENST00000263121.11:c.510C>T	ENSP00000263121.7:p.Asp170=
ENST00000344921.10:c.537C>T	ENSP00000340883.6:p.Asp179=
ENST00000407082.3:c.372C>T	ENSP00000385226.3:p.Asp124=
ENST00000407422.7:c.483C>T	ENSP00000383984.3:p.Asp161=
ENST00000417137.5:c.564C>T	ENSP00000388489.1:p.Asp188=
ENST00000634926.1:c.251C>T
ENST00000635578.1:c.224C>T
NM_001007468.1:c.483C>T	NP_001007469.1:p.Asp161=
NM_003073.3:c.510C>T , LRG_520t1:c.510C>T	NP_003064.2:p.Asp170=
XM_011530345.1:c.564C>T	XP_011528647.1:p.Asp188=
XM_011530346.1:c.537C>T	XP_011528648.1:p.Asp179=
NM_001007468.2:c.483C>T	NP_001007469.1:p.Asp161=
NM_001317946.1:c.537C>T	NP_001304875.1:p.Asp179=
NM_001362877.1:c.564C>T	NP_001349806.1:p.Asp188=
NM_003073.4:c.510C>T	NP_003064.2:p.Asp170=
NM_001007468.3:c.483C>T	NP_001007469.1:p.Asp161=
NM_001317946.2:c.537C>T	NP_001304875.1:p.Asp179=
NM_001362877.2:c.564C>T	NP_001349806.1:p.Asp188=
NM_003073.5:c.510C>T MANE Select	NP_003064.2:p.Asp170=