Canonical Allele Identifier: CA2397981100
Gene: SMARCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23834164C= , CM000684.2:g.23834164C= GRCh38
NC_000022.10:g.24176351C= , CM000684.1:g.24176351C= GRCh37
NC_000022.9:g.22506351C= NCBI36
NG_009303.1:g.52202C= , LRG_520:g.52202C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263121.12:c.1004C= ENSP00000263121.8:p.Thr335=
ENST00000344921.11:c.1169C= ENSP00000340883.6:p.Thr390=
ENST00000407422.8:c.1115C= ENSP00000383984.3:p.Thr372=
ENST00000644036.2:c.1142C= MANE Select ENSP00000494049.2:p.Thr381=
ENST00000644462.1:c.1860C= ENSP00000494283.1:n.1860C=
ENST00000645799.1:n.2464C=
ENST00000646723.1:n.3488C=
ENST00000647057.1:c.*636C= ENSP00000494757.1:n.*636C=
ENST00000263121.11:c.1142C= ENSP00000263121.7:p.Thr381=
ENST00000344921.10:c.1169C= ENSP00000340883.6:p.Thr390=
ENST00000407082.3:c.1004C= ENSP00000385226.3:p.Thr335=
ENST00000407422.7:c.1115C= ENSP00000383984.3:p.Thr372=
NM_001007468.1:c.1115C= NP_001007469.1:p.Thr372=
NM_003073.3:c.1142C= , LRG_520t1:c.1142C= NP_003064.2:p.Thr381=
XM_011530345.1:c.1196C= XP_011528647.1:p.Thr399=
XM_011530346.1:c.1169C= XP_011528648.1:p.Thr390=
NM_001007468.2:c.1115C= NP_001007469.1:p.Thr372=
NM_001317946.1:c.1169C= NP_001304875.1:p.Thr390=
NM_001362877.1:c.1196C= NP_001349806.1:p.Thr399=
NM_003073.4:c.1142C= NP_003064.2:p.Thr381=
NM_001007468.3:c.1115C= NP_001007469.1:p.Thr372=
NM_001317946.2:c.1169C= NP_001304875.1:p.Thr390=
NM_001362877.2:c.1196C= NP_001349806.1:p.Thr399=
NM_003073.5:c.1142C= MANE Select NP_003064.2:p.Thr381=