Canonical Allele Identifier: CA2397980540
Gene: SMARCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23833701G= , CM000684.2:g.23833701G= GRCh38
NC_000022.10:g.24175888G= , CM000684.1:g.24175888G= GRCh37
NC_000022.9:g.22505888G= NCBI36
NG_009303.1:g.51739G= , LRG_520:g.51739G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263121.12:c.978G= ENSP00000263121.8:p.Thr326=
ENST00000344921.11:c.1143G= ENSP00000340883.6:p.Thr381=
ENST00000407422.8:c.1089G= ENSP00000383984.3:p.Thr363=
ENST00000644036.2:c.1116G= MANE Select ENSP00000494049.2:p.Thr372=
ENST00000644462.1:c.1834G= ENSP00000494283.1:n.1834G=
ENST00000645799.1:n.2438G=
ENST00000646723.1:n.3462G=
ENST00000647057.1:c.*610G= ENSP00000494757.1:n.*610G=
ENST00000263121.11:c.1116G= ENSP00000263121.7:p.Thr372=
ENST00000344921.10:c.1143G= ENSP00000340883.6:p.Thr381=
ENST00000407082.3:c.978G= ENSP00000385226.3:p.Thr326=
ENST00000407422.7:c.1089G= ENSP00000383984.3:p.Thr363=
NM_001007468.1:c.1089G= NP_001007469.1:p.Thr363=
NM_003073.3:c.1116G= , LRG_520t1:c.1116G= NP_003064.2:p.Thr372=
XM_011530345.1:c.1170G= XP_011528647.1:p.Thr390=
XM_011530346.1:c.1143G= XP_011528648.1:p.Thr381=
NM_001007468.2:c.1089G= NP_001007469.1:p.Thr363=
NM_001317946.1:c.1143G= NP_001304875.1:p.Thr381=
NM_001362877.1:c.1170G= NP_001349806.1:p.Thr390=
NM_003073.4:c.1116G= NP_003064.2:p.Thr372=
NM_001007468.3:c.1089G= NP_001007469.1:p.Thr363=
NM_001317946.2:c.1143G= NP_001304875.1:p.Thr381=
NM_001362877.2:c.1170G= NP_001349806.1:p.Thr390=
NM_003073.5:c.1116G= MANE Select NP_003064.2:p.Thr372=