Canonical Allele Identifier: CA513767391

Gene: SMARCB1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23791780C>A , CM000684.2:g.23791780C>A	GRCh38
NC_000022.10:g.24133967C>A , CM000684.1:g.24133967C>A	GRCh37
NC_000022.9:g.22463967C>A	NCBI36
NG_009303.1:g.9818C>A , LRG_520:g.9818C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.118C>A	ENSP00000263121.8:p.Arg40=
ENST00000344921.11:c.118C>A	ENSP00000340883.6:p.Arg40=
ENST00000407082.4:c.118C>A	ENSP00000385226.4:p.Arg40=
ENST00000407422.8:c.118C>A	ENSP00000383984.3:p.Arg40=
ENST00000417137.6:c.118C>A	ENSP00000388489.2:p.Arg40=
ENST00000491967.2:n.308C>A
ENST00000643421.1:n.86C>A
ENST00000644036.2:c.118C>A MANE Select	ENSP00000494049.2:p.Arg40=
ENST00000644619.1:c.118C>A	ENSP00000494695.1:p.Arg40=
ENST00000646421.1:n.310C>A
ENST00000646723.1:n.106C>A
ENST00000646911.1:n.30C>A
ENST00000647057.1:c.93+4518C>A	ENSP00000494757.1:n.93+4518C>A
ENST00000263121.11:c.118C>A	ENSP00000263121.7:p.Arg40=
ENST00000344921.10:c.118C>A	ENSP00000340883.6:p.Arg40=
ENST00000407082.3:c.118C>A	ENSP00000385226.3:p.Arg40=
ENST00000407422.7:c.118C>A	ENSP00000383984.3:p.Arg40=
ENST00000417137.5:c.118C>A	ENSP00000388489.1:p.Arg40=
NM_001007468.1:c.118C>A	NP_001007469.1:p.Arg40=
NM_003073.3:c.118C>A , LRG_520t1:c.118C>A	NP_003064.2:p.Arg40=
XM_011530345.1:c.118C>A	XP_011528647.1:p.Arg40=
XM_011530346.1:c.118C>A	XP_011528648.1:p.Arg40=
NM_001007468.2:c.118C>A	NP_001007469.1:p.Arg40=
NM_001317946.1:c.118C>A	NP_001304875.1:p.Arg40=
NM_001362877.1:c.118C>A	NP_001349806.1:p.Arg40=
NM_003073.4:c.118C>A	NP_003064.2:p.Arg40=
NM_001007468.3:c.118C>A	NP_001007469.1:p.Arg40=
NM_001317946.2:c.118C>A	NP_001304875.1:p.Arg40=
NM_001362877.2:c.118C>A	NP_001349806.1:p.Arg40=
NM_003073.5:c.118C>A MANE Select	NP_003064.2:p.Arg40=