Canonical Allele Identifier: CA513739826

Gene: SMARCB1

Linked Data

• ClinVar Variation Id: 3013122
• ClinVar RCV Id: RCV003870217
• dbSNP Id: rs1244847698
• gnomAD v2: 22-24176337-G-A
• gnomAD v4: 22-23834150-G-A
• MyVariant Identifiers: chr22:g.24176337G>A (hg19) ; chr22:g.23834150G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834150G>A , CM000684.2:g.23834150G>A	GRCh38
NC_000022.10:g.24176337G>A , CM000684.1:g.24176337G>A	GRCh37
NC_000022.9:g.22506337G>A	NCBI36
NG_009303.1:g.52188G>A , LRG_520:g.52188G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000263121.12:c.990G>A	ENSP00000263121.8:p.Arg330=
ENST00000344921.11:c.1155G>A	ENSP00000340883.6:p.Arg385=
ENST00000407422.8:c.1101G>A	ENSP00000383984.3:p.Arg367=
ENST00000644036.2:c.1128G>A MANE Select	ENSP00000494049.2:p.Arg376=
ENST00000644462.1:c.1846G>A	ENSP00000494283.1:n.1846G>A
ENST00000645799.1:n.2450G>A
ENST00000646723.1:n.3474G>A
ENST00000647057.1:c.*622G>A	ENSP00000494757.1:n.*622G>A
ENST00000263121.11:c.1128G>A	ENSP00000263121.7:p.Arg376=
ENST00000344921.10:c.1155G>A	ENSP00000340883.6:p.Arg385=
ENST00000407082.3:c.990G>A	ENSP00000385226.3:p.Arg330=
ENST00000407422.7:c.1101G>A	ENSP00000383984.3:p.Arg367=
NM_001007468.1:c.1101G>A	NP_001007469.1:p.Arg367=
NM_003073.3:c.1128G>A , LRG_520t1:c.1128G>A	NP_003064.2:p.Arg376=
XM_011530345.1:c.1182G>A	XP_011528647.1:p.Arg394=
XM_011530346.1:c.1155G>A	XP_011528648.1:p.Arg385=
NM_001007468.2:c.1101G>A	NP_001007469.1:p.Arg367=
NM_001317946.1:c.1155G>A	NP_001304875.1:p.Arg385=
NM_001362877.1:c.1182G>A	NP_001349806.1:p.Arg394=
NM_003073.4:c.1128G>A	NP_003064.2:p.Arg376=
NM_001007468.3:c.1101G>A	NP_001007469.1:p.Arg367=
NM_001317946.2:c.1155G>A	NP_001304875.1:p.Arg385=
NM_001362877.2:c.1182G>A	NP_001349806.1:p.Arg394=
NM_003073.5:c.1128G>A MANE Select	NP_003064.2:p.Arg376=