Canonical Allele Identifier: CA513739686

Gene: SMARCB1

Linked Data

• ClinVar Variation Id: 759224
• ClinVar RCV Id: RCV000937018
• dbSNP Id: rs1601445449
• gnomAD v3: 22-23833680-C-A
• gnomAD v4: 22-23833680-C-A
• MyVariant Identifiers: chr22:g.24175867C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23833680C>A , CM000684.2:g.23833680C>A	GRCh38
NC_000022.10:g.24175867C>A , CM000684.1:g.24175867C>A	GRCh37
NC_000022.9:g.22505867C>A	NCBI36
NG_009303.1:g.51718C>A , LRG_520:g.51718C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.957C>A	ENSP00000263121.8:p.Ile319=
ENST00000344921.11:c.1122C>A	ENSP00000340883.6:p.Ile374=
ENST00000407422.8:c.1068C>A	ENSP00000383984.3:p.Ile356=
ENST00000644036.2:c.1095C>A MANE Select	ENSP00000494049.2:p.Ile365=
ENST00000644462.1:c.1813C>A	ENSP00000494283.1:n.1813C>A
ENST00000645799.1:n.2417C>A
ENST00000646723.1:n.3441C>A
ENST00000647057.1:c.*589C>A	ENSP00000494757.1:n.*589C>A
ENST00000263121.11:c.1095C>A	ENSP00000263121.7:p.Ile365=
ENST00000344921.10:c.1122C>A	ENSP00000340883.6:p.Ile374=
ENST00000407082.3:c.957C>A	ENSP00000385226.3:p.Ile319=
ENST00000407422.7:c.1068C>A	ENSP00000383984.3:p.Ile356=
NM_001007468.1:c.1068C>A	NP_001007469.1:p.Ile356=
NM_003073.3:c.1095C>A , LRG_520t1:c.1095C>A	NP_003064.2:p.Ile365=
XM_011530345.1:c.1149C>A	XP_011528647.1:p.Ile383=
XM_011530346.1:c.1122C>A	XP_011528648.1:p.Ile374=
NM_001007468.2:c.1068C>A	NP_001007469.1:p.Ile356=
NM_001317946.1:c.1122C>A	NP_001304875.1:p.Ile374=
NM_001362877.1:c.1149C>A	NP_001349806.1:p.Ile383=
NM_003073.4:c.1095C>A	NP_003064.2:p.Ile365=
NM_001007468.3:c.1068C>A	NP_001007469.1:p.Ile356=
NM_001317946.2:c.1122C>A	NP_001304875.1:p.Ile374=
NM_001362877.2:c.1149C>A	NP_001349806.1:p.Ile383=
NM_003073.5:c.1095C>A MANE Select	NP_003064.2:p.Ile365=