Canonical Allele Identifier: CA2397966305
Community Standard Title: NM_003073.5(SMARCB1):c.544C= (p.Gln182=)
Gene: SMARCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23803338C= , CM000684.2:g.23803338C= GRCh38
NC_000022.10:g.24145525C= , CM000684.1:g.24145525C= GRCh37
NC_000022.9:g.22475525C= NCBI36
NG_009303.1:g.21376C= , LRG_520:g.21376C=

Transcript Alleles

HGVS Amino-acid Change
NM_003073.5:c.544C= MANE Select NP_003064.2:p.Gln182=
ENST00000644036.2:c.544C= MANE Select ENSP00000494049.2:p.Gln182=
NM_001007468.1:c.517C= NP_001007469.1:p.Gln173=
NM_001007468.2:c.517C= NP_001007469.1:p.Gln173=
NM_001007468.3:c.517C= NP_001007469.1:p.Gln173=
NM_001317946.1:c.571C= NP_001304875.1:p.Gln191=
NM_001317946.2:c.571C= NP_001304875.1:p.Gln191=
NM_001362877.1:c.598C= NP_001349806.1:p.Gln200=
NM_001362877.2:c.598C= NP_001349806.1:p.Gln200=
NM_003073.3:c.544C= , LRG_520t1:c.544C= NP_003064.2:p.Gln182=
NM_003073.4:c.544C= NP_003064.2:p.Gln182=
ENST00000263121.11:c.544C= ENSP00000263121.7:p.Gln182=
ENST00000263121.12:c.406C= ENSP00000263121.8:p.Gln136=
ENST00000344921.10:c.571C= ENSP00000340883.6:p.Gln191=
ENST00000344921.11:c.571C= ENSP00000340883.6:p.Gln191=
ENST00000407082.3:c.406C= ENSP00000385226.3:p.Gln136=
ENST00000407082.4:c.379C= ENSP00000385226.4:p.Gln127=
ENST00000407422.7:c.517C= ENSP00000383984.3:p.Gln173=
ENST00000407422.8:c.517C= ENSP00000383984.3:p.Gln173=
ENST00000417137.5:c.598C= ENSP00000388489.1:p.Gln200=
ENST00000417137.6:c.598C= ENSP00000388489.2:p.Gln200=
ENST00000642275.1:n.792C=
ENST00000642727.1:c.710C= ENSP00000495144.1:n.710C=
ENST00000643421.1:n.512C=
ENST00000644462.1:c.1262C= ENSP00000494283.1:n.1262C=
ENST00000644467.1:n.1338C=
ENST00000644619.1:c.*611C= ENSP00000494695.1:n.*611C=
ENST00000646723.1:n.2745C=
ENST00000646911.1:n.456C=
ENST00000647057.1:c.*38C= ENSP00000494757.1:n.*38C=
XM_011530345.1:c.598C= XP_011528647.1:p.Gln200=
XM_011530346.1:c.571C= XP_011528648.1:p.Gln191=