Canonical Allele Identifier: CA513739613

Gene: SMARCB1

Linked Data

• ClinVar Variation Id: 532976
• ClinVar RCV Id: RCV000639929 ; RCV001009848
• dbSNP Id: rs1205121674
• gnomAD v2: 22-24175846-C-T
• gnomAD v3: 22-23833659-C-T
• gnomAD v4: 22-23833659-C-T
• MyVariant Identifiers: chr22:g.24175846C>T (hg19) ; chr22:g.23833659C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23833659C>T , CM000684.2:g.23833659C>T	GRCh38
NC_000022.10:g.24175846C>T , CM000684.1:g.24175846C>T	GRCh37
NC_000022.9:g.22505846C>T	NCBI36
NG_009303.1:g.51697C>T , LRG_520:g.51697C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.936C>T	ENSP00000263121.8:p.Asp312=
ENST00000344921.11:c.1101C>T	ENSP00000340883.6:p.Asp367=
ENST00000407422.8:c.1047C>T	ENSP00000383984.3:p.Asp349=
ENST00000644036.2:c.1074C>T MANE Select	ENSP00000494049.2:p.Asp358=
ENST00000644462.1:c.1792C>T	ENSP00000494283.1:n.1792C>T
ENST00000645799.1:n.2396C>T
ENST00000646723.1:n.3420C>T
ENST00000647057.1:c.*568C>T	ENSP00000494757.1:n.*568C>T
ENST00000263121.11:c.1074C>T	ENSP00000263121.7:p.Asp358=
ENST00000344921.10:c.1101C>T	ENSP00000340883.6:p.Asp367=
ENST00000407082.3:c.936C>T	ENSP00000385226.3:p.Asp312=
ENST00000407422.7:c.1047C>T	ENSP00000383984.3:p.Asp349=
NM_001007468.1:c.1047C>T	NP_001007469.1:p.Asp349=
NM_003073.3:c.1074C>T , LRG_520t1:c.1074C>T	NP_003064.2:p.Asp358=
XM_011530345.1:c.1128C>T	XP_011528647.1:p.Asp376=
XM_011530346.1:c.1101C>T	XP_011528648.1:p.Asp367=
NM_001007468.2:c.1047C>T	NP_001007469.1:p.Asp349=
NM_001317946.1:c.1101C>T	NP_001304875.1:p.Asp367=
NM_001362877.1:c.1128C>T	NP_001349806.1:p.Asp376=
NM_003073.4:c.1074C>T	NP_003064.2:p.Asp358=
NM_001007468.3:c.1047C>T	NP_001007469.1:p.Asp349=
NM_001317946.2:c.1101C>T	NP_001304875.1:p.Asp367=
NM_001362877.2:c.1128C>T	NP_001349806.1:p.Asp376=
NM_003073.5:c.1074C>T MANE Select	NP_003064.2:p.Asp358=