Canonical Allele Identifier: CA2397961349
Gene: SMARCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23793636G= , CM000684.2:g.23793636G= GRCh38
NC_000022.10:g.24135823G= , CM000684.1:g.24135823G= GRCh37
NC_000022.9:g.22465823G= NCBI36
NG_009303.1:g.11674G= , LRG_520:g.11674G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263121.12:c.310G= ENSP00000263121.8:p.Asp104=
ENST00000344921.11:c.283G= ENSP00000340883.6:p.Asp95=
ENST00000407082.4:c.283G= ENSP00000385226.4:p.Asp95=
ENST00000407422.8:c.283G= ENSP00000383984.3:p.Asp95=
ENST00000417137.6:c.310G= ENSP00000388489.2:p.Asp104=
ENST00000491967.2:n.473G=
ENST00000643421.1:n.278G=
ENST00000644036.2:c.310G= MANE Select ENSP00000494049.2:p.Asp104=
ENST00000644462.1:c.145G= ENSP00000494283.1:p.Asp49=
ENST00000644619.1:c.310G= ENSP00000494695.1:p.Asp104=
ENST00000646421.1:n.2166G=
ENST00000646723.1:n.298G=
ENST00000646911.1:n.222G=
ENST00000647057.1:c.93+6374G= ENSP00000494757.1:n.93+6374G=
ENST00000263121.11:c.310G= ENSP00000263121.7:p.Asp104=
ENST00000344921.10:c.283G= ENSP00000340883.6:p.Asp95=
ENST00000407082.3:c.310G= ENSP00000385226.3:p.Asp104=
ENST00000407422.7:c.283G= ENSP00000383984.3:p.Asp95=
ENST00000417137.5:c.310G= ENSP00000388489.1:p.Asp104=
ENST00000491967.1:n.36G=
ENST00000634926.1:c.162G=
ENST00000635578.1:c.135G=
NM_001007468.1:c.283G= NP_001007469.1:p.Asp95=
NM_003073.3:c.310G= , LRG_520t1:c.310G= NP_003064.2:p.Asp104=
XM_011530345.1:c.310G= XP_011528647.1:p.Asp104=
XM_011530346.1:c.283G= XP_011528648.1:p.Asp95=
NM_001007468.2:c.283G= NP_001007469.1:p.Asp95=
NM_001317946.1:c.283G= NP_001304875.1:p.Asp95=
NM_001362877.1:c.310G= NP_001349806.1:p.Asp104=
NM_003073.4:c.310G= NP_003064.2:p.Asp104=
NM_001007468.3:c.283G= NP_001007469.1:p.Asp95=
NM_001317946.2:c.283G= NP_001304875.1:p.Asp95=
NM_001362877.2:c.310G= NP_001349806.1:p.Asp104=
NM_003073.5:c.310G= MANE Select NP_003064.2:p.Asp104=