Canonical Allele Identifier: CA410935396
Gene: SMARCB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23803295C>A , CM000684.2:g.23803295C>A GRCh38
NC_000022.10:g.24145482C>A , CM000684.1:g.24145482C>A GRCh37
NC_000022.9:g.22475482C>A NCBI36
NG_009303.1:g.21333C>A , LRG_520:g.21333C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263121.12:c.363C>A ENSP00000263121.8:p.Ser121Arg
ENST00000344921.11:c.528C>A ENSP00000340883.6:p.His176Gln
ENST00000407082.4:c.336C>A ENSP00000385226.4:p.Ser112Arg
ENST00000407422.8:c.474C>A ENSP00000383984.3:p.Cys158Ter
ENST00000417137.6:c.555C>A ENSP00000388489.2:p.His185Gln
ENST00000642275.1:n.749C>A
ENST00000642727.1:c.667C>A ENSP00000495144.1:n.667C>A
ENST00000643421.1:n.469C>A
ENST00000644036.2:c.501C>A MANE Select ENSP00000494049.2:p.Cys167Ter
ENST00000644462.1:c.1219C>A ENSP00000494283.1:n.1219C>A
ENST00000644467.1:n.1295C>A
ENST00000644619.1:c.*568C>A ENSP00000494695.1:n.*568C>A
ENST00000646723.1:n.2702C>A
ENST00000646911.1:n.413C>A
ENST00000647057.1:c.232C>A ENSP00000494757.1:p.Leu78Ile
ENST00000263121.11:c.501C>A ENSP00000263121.7:p.Cys167Ter
ENST00000344921.10:c.528C>A ENSP00000340883.6:p.His176Gln
ENST00000407082.3:c.363C>A ENSP00000385226.3:p.Ser121Arg
ENST00000407422.7:c.474C>A ENSP00000383984.3:p.Cys158Ter
ENST00000417137.5:c.555C>A ENSP00000388489.1:p.His185Gln
ENST00000634926.1:c.242C>A
ENST00000635578.1:c.215C>A
NM_001007468.1:c.474C>A NP_001007469.1:p.Cys158Ter
NM_003073.3:c.501C>A , LRG_520t1:c.501C>A NP_003064.2:p.Cys167Ter
XM_011530345.1:c.555C>A XP_011528647.1:p.His185Gln
XM_011530346.1:c.528C>A XP_011528648.1:p.His176Gln
NM_001007468.2:c.474C>A NP_001007469.1:p.Cys158Ter
NM_001317946.1:c.528C>A NP_001304875.1:p.His176Gln
NM_001362877.1:c.555C>A NP_001349806.1:p.His185Gln
NM_003073.4:c.501C>A NP_003064.2:p.Cys167Ter
NM_001007468.3:c.474C>A NP_001007469.1:p.Cys158Ter
NM_001317946.2:c.528C>A NP_001304875.1:p.His176Gln
NM_001362877.2:c.555C>A NP_001349806.1:p.His185Gln
NM_003073.5:c.501C>A MANE Select NP_003064.2:p.Cys167Ter