Canonical Allele Identifier: CA410913974

Gene: SMARCB1

Linked Data

• ClinVar Variation Id: 985428
• ClinVar RCV Id: RCV001266328
• dbSNP Id: rs2030794445
• gnomAD v4: 22-23833691-A-T
• MyVariant Identifiers: chr22:g.24175878A>T (hg19) ; chr22:g.23833691A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23833691A>T , CM000684.2:g.23833691A>T	GRCh38
NC_000022.10:g.24175878A>T , CM000684.1:g.24175878A>T	GRCh37
NC_000022.9:g.22505878A>T	NCBI36
NG_009303.1:g.51729A>T , LRG_520:g.51729A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.968A>T	ENSP00000263121.8:p.Asp323Val
ENST00000344921.11:c.1133A>T	ENSP00000340883.6:p.Asp378Val
ENST00000407422.8:c.1079A>T	ENSP00000383984.3:p.Asp360Val
ENST00000644036.2:c.1106A>T MANE Select	ENSP00000494049.2:p.Asp369Val
ENST00000644462.1:c.1824A>T	ENSP00000494283.1:n.1824A>T
ENST00000645799.1:n.2428A>T
ENST00000646723.1:n.3452A>T
ENST00000647057.1:c.*600A>T	ENSP00000494757.1:n.*600A>T
ENST00000263121.11:c.1106A>T	ENSP00000263121.7:p.Asp369Val
ENST00000344921.10:c.1133A>T	ENSP00000340883.6:p.Asp378Val
ENST00000407082.3:c.968A>T	ENSP00000385226.3:p.Asp323Val
ENST00000407422.7:c.1079A>T	ENSP00000383984.3:p.Asp360Val
NM_001007468.1:c.1079A>T	NP_001007469.1:p.Asp360Val
NM_003073.3:c.1106A>T , LRG_520t1:c.1106A>T	NP_003064.2:p.Asp369Val
XM_011530345.1:c.1160A>T	XP_011528647.1:p.Asp387Val
XM_011530346.1:c.1133A>T	XP_011528648.1:p.Asp378Val
NM_001007468.2:c.1079A>T	NP_001007469.1:p.Asp360Val
NM_001317946.1:c.1133A>T	NP_001304875.1:p.Asp378Val
NM_001362877.1:c.1160A>T	NP_001349806.1:p.Asp387Val
NM_003073.4:c.1106A>T	NP_003064.2:p.Asp369Val
NM_001007468.3:c.1079A>T	NP_001007469.1:p.Asp360Val
NM_001317946.2:c.1133A>T	NP_001304875.1:p.Asp378Val
NM_001362877.2:c.1160A>T	NP_001349806.1:p.Asp387Val
NM_003073.5:c.1106A>T MANE Select	NP_003064.2:p.Asp369Val