Canonical Allele Identifier: CA2397981107
Gene: SMARCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23834179A= , CM000684.2:g.23834179A= GRCh38
NC_000022.10:g.24176366A= , CM000684.1:g.24176366A= GRCh37
NC_000022.9:g.22506366A= NCBI36
NG_009303.1:g.52217A= , LRG_520:g.52217A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263121.12:c.1019A= ENSP00000263121.8:p.Ter340=
ENST00000344921.11:c.1184A= ENSP00000340883.6:p.Ter395=
ENST00000407422.8:c.1130A= ENSP00000383984.3:p.Ter377=
ENST00000644036.2:c.1157A= MANE Select ENSP00000494049.2:p.Ter386=
ENST00000644462.1:c.1875A= ENSP00000494283.1:n.1875A=
ENST00000645799.1:n.2479A=
ENST00000646723.1:n.3503A=
ENST00000647057.1:c.*651A= ENSP00000494757.1:n.*651A=
ENST00000263121.11:c.1157A= ENSP00000263121.7:p.Ter386=
ENST00000344921.10:c.1184A= ENSP00000340883.6:p.Ter395=
ENST00000407082.3:c.1019A= ENSP00000385226.3:p.Ter340=
ENST00000407422.7:c.1130A= ENSP00000383984.3:p.Ter377=
NM_001007468.1:c.1130A= NP_001007469.1:p.Ter377=
NM_003073.3:c.1157A= , LRG_520t1:c.1157A= NP_003064.2:p.Ter386=
XM_011530345.1:c.1211A= XP_011528647.1:p.Ter404=
XM_011530346.1:c.1184A= XP_011528648.1:p.Ter395=
NM_001007468.2:c.1130A= NP_001007469.1:p.Ter377=
NM_001317946.1:c.1184A= NP_001304875.1:p.Ter395=
NM_001362877.1:c.1211A= NP_001349806.1:p.Ter404=
NM_003073.4:c.1157A= NP_003064.2:p.Ter386=
NM_001007468.3:c.1130A= NP_001007469.1:p.Ter377=
NM_001317946.2:c.1184A= NP_001304875.1:p.Ter395=
NM_001362877.2:c.1211A= NP_001349806.1:p.Ter404=
NM_003073.5:c.1157A= MANE Select NP_003064.2:p.Ter386=