Canonical Allele Identifier: CA2397961358
Gene: SMARCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23793671G= , CM000684.2:g.23793671G= GRCh38
NC_000022.10:g.24135858G= , CM000684.1:g.24135858G= GRCh37
NC_000022.9:g.22465858G= NCBI36
NG_009303.1:g.11709G= , LRG_520:g.11709G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263121.12:c.345G= ENSP00000263121.8:p.Glu115=
ENST00000344921.11:c.318G= ENSP00000340883.6:p.Glu106=
ENST00000407082.4:c.318G= ENSP00000385226.4:p.Glu106=
ENST00000407422.8:c.318G= ENSP00000383984.3:p.Glu106=
ENST00000417137.6:c.345G= ENSP00000388489.2:p.Glu115=
ENST00000491967.2:n.508G=
ENST00000643421.1:n.313G=
ENST00000644036.2:c.345G= MANE Select ENSP00000494049.2:p.Glu115=
ENST00000644462.1:c.180G= ENSP00000494283.1:p.Glu60=
ENST00000644619.1:c.345G= ENSP00000494695.1:p.Glu115=
ENST00000646421.1:n.2201G=
ENST00000646723.1:n.333G=
ENST00000646911.1:n.257G=
ENST00000647057.1:c.93+6409G= ENSP00000494757.1:n.93+6409G=
ENST00000263121.11:c.345G= ENSP00000263121.7:p.Glu115=
ENST00000344921.10:c.318G= ENSP00000340883.6:p.Glu106=
ENST00000407082.3:c.345G= ENSP00000385226.3:p.Glu115=
ENST00000407422.7:c.318G= ENSP00000383984.3:p.Glu106=
ENST00000417137.5:c.345G= ENSP00000388489.1:p.Glu115=
ENST00000491967.1:n.71G=
ENST00000634926.1:c.197G=
ENST00000635578.1:c.170G=
NM_001007468.1:c.318G= NP_001007469.1:p.Glu106=
NM_003073.3:c.345G= , LRG_520t1:c.345G= NP_003064.2:p.Glu115=
XM_011530345.1:c.345G= XP_011528647.1:p.Glu115=
XM_011530346.1:c.318G= XP_011528648.1:p.Glu106=
NM_001007468.2:c.318G= NP_001007469.1:p.Glu106=
NM_001317946.1:c.318G= NP_001304875.1:p.Glu106=
NM_001362877.1:c.345G= NP_001349806.1:p.Glu115=
NM_003073.4:c.345G= NP_003064.2:p.Glu115=
NM_001007468.3:c.318G= NP_001007469.1:p.Glu106=
NM_001317946.2:c.318G= NP_001304875.1:p.Glu106=
NM_001362877.2:c.345G= NP_001349806.1:p.Glu115=
NM_003073.5:c.345G= MANE Select NP_003064.2:p.Glu115=