Canonical Allele Identifier: CA410912835

Gene: SMARCB1

Linked Data

• ClinVar Variation Id: 2482362
• ClinVar RCV Id: RCV003779700 ; RCV003205096
• gnomAD v4: 22-23833573-G-A
• COSMIC: COSM3424066 ; COSM3424067
• MyVariant Identifiers: chr22:g.24175760G>A (hg19) ; chr22:g.23833573G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23833573G>A , CM000684.2:g.23833573G>A	GRCh38
NC_000022.10:g.24175760G>A , CM000684.1:g.24175760G>A	GRCh37
NC_000022.9:g.22505760G>A	NCBI36
NG_009303.1:g.51611G>A , LRG_520:g.51611G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.850G>A	ENSP00000263121.8:p.Glu284Lys
ENST00000344921.11:c.1015G>A	ENSP00000340883.6:p.Glu339Lys
ENST00000407422.8:c.961G>A	ENSP00000383984.3:p.Glu321Lys
ENST00000477836.2:n.2139G>A
ENST00000644036.2:c.988G>A MANE Select	ENSP00000494049.2:p.Glu330Lys
ENST00000644462.1:c.1706G>A	ENSP00000494283.1:n.1706G>A
ENST00000645799.1:n.2310G>A
ENST00000646723.1:n.3334G>A
ENST00000647057.1:c.*482G>A	ENSP00000494757.1:n.*482G>A
ENST00000263121.11:c.988G>A	ENSP00000263121.7:p.Glu330Lys
ENST00000344921.10:c.1015G>A	ENSP00000340883.6:p.Glu339Lys
ENST00000407082.3:c.850G>A	ENSP00000385226.3:p.Glu284Lys
ENST00000407422.7:c.961G>A	ENSP00000383984.3:p.Glu321Lys
NM_001007468.1:c.961G>A	NP_001007469.1:p.Glu321Lys
NM_003073.3:c.988G>A , LRG_520t1:c.988G>A	NP_003064.2:p.Glu330Lys
XM_011530345.1:c.1042G>A	XP_011528647.1:p.Glu348Lys
XM_011530346.1:c.1015G>A	XP_011528648.1:p.Glu339Lys
NM_001007468.2:c.961G>A	NP_001007469.1:p.Glu321Lys
NM_001317946.1:c.1015G>A	NP_001304875.1:p.Glu339Lys
NM_001362877.1:c.1042G>A	NP_001349806.1:p.Glu348Lys
NM_003073.4:c.988G>A	NP_003064.2:p.Glu330Lys
NM_001007468.3:c.961G>A	NP_001007469.1:p.Glu321Lys
NM_001317946.2:c.1015G>A	NP_001304875.1:p.Glu339Lys
NM_001362877.2:c.1042G>A	NP_001349806.1:p.Glu348Lys
NM_003073.5:c.988G>A MANE Select	NP_003064.2:p.Glu330Lys