Canonical Allele Identifier: CA513740130

Gene: SMARCB1

Linked Data

• ClinVar Variation Id: 818447
• ClinVar RCV Id: RCV001010037
• dbSNP Id: rs1601446932
• gnomAD v4: 22-23834179-A-G
• MyVariant Identifiers: chr22:g.24176366A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834179A>G , CM000684.2:g.23834179A>G	GRCh38
NC_000022.10:g.24176366A>G , CM000684.1:g.24176366A>G	GRCh37
NC_000022.9:g.22506366A>G	NCBI36
NG_009303.1:g.52217A>G , LRG_520:g.52217A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.1019A>G	ENSP00000263121.8:p.Ter340=
ENST00000344921.11:c.1184A>G	ENSP00000340883.6:p.Ter395=
ENST00000407422.8:c.1130A>G	ENSP00000383984.3:p.Ter377=
ENST00000644036.2:c.1157A>G MANE Select	ENSP00000494049.2:p.Ter386=
ENST00000644462.1:c.1875A>G	ENSP00000494283.1:n.1875A>G
ENST00000645799.1:n.2479A>G
ENST00000646723.1:n.3503A>G
ENST00000647057.1:c.*651A>G	ENSP00000494757.1:n.*651A>G
ENST00000263121.11:c.1157A>G	ENSP00000263121.7:p.Ter386=
ENST00000344921.10:c.1184A>G	ENSP00000340883.6:p.Ter395=
ENST00000407082.3:c.1019A>G	ENSP00000385226.3:p.Ter340=
ENST00000407422.7:c.1130A>G	ENSP00000383984.3:p.Ter377=
NM_001007468.1:c.1130A>G	NP_001007469.1:p.Ter377=
NM_003073.3:c.1157A>G , LRG_520t1:c.1157A>G	NP_003064.2:p.Ter386=
XM_011530345.1:c.1211A>G	XP_011528647.1:p.Ter404=
XM_011530346.1:c.1184A>G	XP_011528648.1:p.Ter395=
NM_001007468.2:c.1130A>G	NP_001007469.1:p.Ter377=
NM_001317946.1:c.1184A>G	NP_001304875.1:p.Ter395=
NM_001362877.1:c.1211A>G	NP_001349806.1:p.Ter404=
NM_003073.4:c.1157A>G	NP_003064.2:p.Ter386=
NM_001007468.3:c.1130A>G	NP_001007469.1:p.Ter377=
NM_001317946.2:c.1184A>G	NP_001304875.1:p.Ter395=
NM_001362877.2:c.1211A>G	NP_001349806.1:p.Ter404=
NM_003073.5:c.1157A>G MANE Select	NP_003064.2:p.Ter386=