Canonical Allele Identifier: CA513770077

Gene: SMARCB1

Linked Data

• ClinVar Variation Id: 1797668
• ClinVar RCV Id: RCV002439918 ; RCV003689015
• MyVariant Identifiers: chr22:g.24135804A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23793617A>G , CM000684.2:g.23793617A>G	GRCh38
NC_000022.10:g.24135804A>G , CM000684.1:g.24135804A>G	GRCh37
NC_000022.9:g.22465804A>G	NCBI36
NG_009303.1:g.11655A>G , LRG_520:g.11655A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000263121.12:c.291A>G	ENSP00000263121.8:p.Glu97=
ENST00000344921.11:c.264A>G	ENSP00000340883.6:p.Glu88=
ENST00000407082.4:c.264A>G	ENSP00000385226.4:p.Glu88=
ENST00000407422.8:c.264A>G	ENSP00000383984.3:p.Glu88=
ENST00000417137.6:c.291A>G	ENSP00000388489.2:p.Glu97=
ENST00000491967.2:n.454A>G
ENST00000643421.1:n.259A>G
ENST00000644036.2:c.291A>G MANE Select	ENSP00000494049.2:p.Glu97=
ENST00000644462.1:c.126A>G	ENSP00000494283.1:p.Glu42=
ENST00000644619.1:c.291A>G	ENSP00000494695.1:p.Glu97=
ENST00000646421.1:n.2147A>G
ENST00000646723.1:n.279A>G
ENST00000646911.1:n.203A>G
ENST00000647057.1:c.93+6355A>G	ENSP00000494757.1:n.93+6355A>G
ENST00000263121.11:c.291A>G	ENSP00000263121.7:p.Glu97=
ENST00000344921.10:c.264A>G	ENSP00000340883.6:p.Glu88=
ENST00000407082.3:c.291A>G	ENSP00000385226.3:p.Glu97=
ENST00000407422.7:c.264A>G	ENSP00000383984.3:p.Glu88=
ENST00000417137.5:c.291A>G	ENSP00000388489.1:p.Glu97=
ENST00000491967.1:n.17A>G
ENST00000634926.1:c.143A>G
ENST00000635578.1:c.116A>G
NM_001007468.1:c.264A>G	NP_001007469.1:p.Glu88=
NM_003073.3:c.291A>G , LRG_520t1:c.291A>G	NP_003064.2:p.Glu97=
XM_011530345.1:c.291A>G	XP_011528647.1:p.Glu97=
XM_011530346.1:c.264A>G	XP_011528648.1:p.Glu88=
NM_001007468.2:c.264A>G	NP_001007469.1:p.Glu88=
NM_001317946.1:c.264A>G	NP_001304875.1:p.Glu88=
NM_001362877.1:c.291A>G	NP_001349806.1:p.Glu97=
NM_003073.4:c.291A>G	NP_003064.2:p.Glu97=
NM_001007468.3:c.264A>G	NP_001007469.1:p.Glu88=
NM_001317946.2:c.264A>G	NP_001304875.1:p.Glu88=
NM_001362877.2:c.291A>G	NP_001349806.1:p.Glu97=
NM_003073.5:c.291A>G MANE Select	NP_003064.2:p.Glu97=