Canonical Allele Identifier: CA2397981106
Gene: SMARCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23834177G= , CM000684.2:g.23834177G= GRCh38
NC_000022.10:g.24176364G= , CM000684.1:g.24176364G= GRCh37
NC_000022.9:g.22506364G= NCBI36
NG_009303.1:g.52215G= , LRG_520:g.52215G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263121.12:c.1017G= ENSP00000263121.8:p.Trp339=
ENST00000344921.11:c.1182G= ENSP00000340883.6:p.Trp394=
ENST00000407422.8:c.1128G= ENSP00000383984.3:p.Trp376=
ENST00000644036.2:c.1155G= MANE Select ENSP00000494049.2:p.Trp385=
ENST00000644462.1:c.1873G= ENSP00000494283.1:n.1873G=
ENST00000645799.1:n.2477G=
ENST00000646723.1:n.3501G=
ENST00000647057.1:c.*649G= ENSP00000494757.1:n.*649G=
ENST00000263121.11:c.1155G= ENSP00000263121.7:p.Trp385=
ENST00000344921.10:c.1182G= ENSP00000340883.6:p.Trp394=
ENST00000407082.3:c.1017G= ENSP00000385226.3:p.Trp339=
ENST00000407422.7:c.1128G= ENSP00000383984.3:p.Trp376=
NM_001007468.1:c.1128G= NP_001007469.1:p.Trp376=
NM_003073.3:c.1155G= , LRG_520t1:c.1155G= NP_003064.2:p.Trp385=
XM_011530345.1:c.1209G= XP_011528647.1:p.Trp403=
XM_011530346.1:c.1182G= XP_011528648.1:p.Trp394=
NM_001007468.2:c.1128G= NP_001007469.1:p.Trp376=
NM_001317946.1:c.1182G= NP_001304875.1:p.Trp394=
NM_001362877.1:c.1209G= NP_001349806.1:p.Trp403=
NM_003073.4:c.1155G= NP_003064.2:p.Trp385=
NM_001007468.3:c.1128G= NP_001007469.1:p.Trp376=
NM_001317946.2:c.1182G= NP_001304875.1:p.Trp394=
NM_001362877.2:c.1209G= NP_001349806.1:p.Trp403=
NM_003073.5:c.1155G= MANE Select NP_003064.2:p.Trp385=