Canonical Allele Identifier: CA410934035

Gene: SMARCB1

Linked Data

• dbSNP Id: rs750822703
• MyVariant Identifiers: chr22:g.24135853A>T (hg19) ; chr22:g.23793666A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.340A>T	ENSP00000263121.8:p.Thr114Ser
ENST00000344921.11:c.313A>T	ENSP00000340883.6:p.Thr105Ser
ENST00000407082.4:c.313A>T	ENSP00000385226.4:p.Thr105Ser
ENST00000407422.8:c.313A>T	ENSP00000383984.3:p.Thr105Ser
ENST00000417137.6:c.340A>T	ENSP00000388489.2:p.Thr114Ser
ENST00000491967.2:n.503A>T
ENST00000643421.1:n.308A>T
ENST00000644036.2:c.340A>T MANE Select	ENSP00000494049.2:p.Thr114Ser
ENST00000644462.1:c.175A>T	ENSP00000494283.1:p.Thr59Ser
ENST00000644619.1:c.340A>T	ENSP00000494695.1:p.Thr114Ser
ENST00000646421.1:n.2196A>T
ENST00000646723.1:n.328A>T
ENST00000646911.1:n.252A>T
ENST00000647057.1:c.93+6404A>T	ENSP00000494757.1:n.93+6404A>T
ENST00000263121.11:c.340A>T	ENSP00000263121.7:p.Thr114Ser
ENST00000344921.10:c.313A>T	ENSP00000340883.6:p.Thr105Ser
ENST00000407082.3:c.340A>T	ENSP00000385226.3:p.Thr114Ser
ENST00000407422.7:c.313A>T	ENSP00000383984.3:p.Thr105Ser
ENST00000417137.5:c.340A>T	ENSP00000388489.1:p.Thr114Ser
ENST00000491967.1:n.66A>T
ENST00000634926.1:c.192A>T
ENST00000635578.1:c.165A>T
NM_001007468.1:c.313A>T	NP_001007469.1:p.Thr105Ser
NM_003073.3:c.340A>T , LRG_520t1:c.340A>T	NP_003064.2:p.Thr114Ser
XM_011530345.1:c.340A>T	XP_011528647.1:p.Thr114Ser
XM_011530346.1:c.313A>T	XP_011528648.1:p.Thr105Ser
NM_001007468.2:c.313A>T	NP_001007469.1:p.Thr105Ser
NM_001317946.1:c.313A>T	NP_001304875.1:p.Thr105Ser
NM_001362877.1:c.340A>T	NP_001349806.1:p.Thr114Ser
NM_003073.4:c.340A>T	NP_003064.2:p.Thr114Ser
NM_001007468.3:c.313A>T	NP_001007469.1:p.Thr105Ser
NM_001317946.2:c.313A>T	NP_001304875.1:p.Thr105Ser
NM_001362877.2:c.340A>T	NP_001349806.1:p.Thr114Ser
NM_003073.5:c.340A>T MANE Select	NP_003064.2:p.Thr114Ser