Canonical Allele Identifier: CA410934033

Gene: SMARCB1

Linked Data

• ClinVar Variation Id: 1003802
• ClinVar RCV Id: RCV001300407
• dbSNP Id: rs750822703
• MyVariant Identifiers: chr22:g.24135853A>G (hg19) ; chr22:g.23793666A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23793666A>G , CM000684.2:g.23793666A>G	GRCh38
NC_000022.10:g.24135853A>G , CM000684.1:g.24135853A>G	GRCh37
NC_000022.9:g.22465853A>G	NCBI36
NG_009303.1:g.11704A>G , LRG_520:g.11704A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.340A>G	ENSP00000263121.8:p.Thr114Ala
ENST00000344921.11:c.313A>G	ENSP00000340883.6:p.Thr105Ala
ENST00000407082.4:c.313A>G	ENSP00000385226.4:p.Thr105Ala
ENST00000407422.8:c.313A>G	ENSP00000383984.3:p.Thr105Ala
ENST00000417137.6:c.340A>G	ENSP00000388489.2:p.Thr114Ala
ENST00000491967.2:n.503A>G
ENST00000643421.1:n.308A>G
ENST00000644036.2:c.340A>G MANE Select	ENSP00000494049.2:p.Thr114Ala
ENST00000644462.1:c.175A>G	ENSP00000494283.1:p.Thr59Ala
ENST00000644619.1:c.340A>G	ENSP00000494695.1:p.Thr114Ala
ENST00000646421.1:n.2196A>G
ENST00000646723.1:n.328A>G
ENST00000646911.1:n.252A>G
ENST00000647057.1:c.93+6404A>G	ENSP00000494757.1:n.93+6404A>G
ENST00000263121.11:c.340A>G	ENSP00000263121.7:p.Thr114Ala
ENST00000344921.10:c.313A>G	ENSP00000340883.6:p.Thr105Ala
ENST00000407082.3:c.340A>G	ENSP00000385226.3:p.Thr114Ala
ENST00000407422.7:c.313A>G	ENSP00000383984.3:p.Thr105Ala
ENST00000417137.5:c.340A>G	ENSP00000388489.1:p.Thr114Ala
ENST00000491967.1:n.66A>G
ENST00000634926.1:c.192A>G
ENST00000635578.1:c.165A>G
NM_001007468.1:c.313A>G	NP_001007469.1:p.Thr105Ala
NM_003073.3:c.340A>G , LRG_520t1:c.340A>G	NP_003064.2:p.Thr114Ala
XM_011530345.1:c.340A>G	XP_011528647.1:p.Thr114Ala
XM_011530346.1:c.313A>G	XP_011528648.1:p.Thr105Ala
NM_001007468.2:c.313A>G	NP_001007469.1:p.Thr105Ala
NM_001317946.1:c.313A>G	NP_001304875.1:p.Thr105Ala
NM_001362877.1:c.340A>G	NP_001349806.1:p.Thr114Ala
NM_003073.4:c.340A>G	NP_003064.2:p.Thr114Ala
NM_001007468.3:c.313A>G	NP_001007469.1:p.Thr105Ala
NM_001317946.2:c.313A>G	NP_001304875.1:p.Thr105Ala
NM_001362877.2:c.340A>G	NP_001349806.1:p.Thr114Ala
NM_003073.5:c.340A>G MANE Select	NP_003064.2:p.Thr114Ala