Canonical Allele Identifier: CA16043146
Gene: SMARCB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 372511
dbSNP Id: rs1057517825

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23834143G>A , CM000684.2:g.23834143G>A GRCh38
NC_000022.10:g.24176330G>A , CM000684.1:g.24176330G>A GRCh37
NC_000022.9:g.22506330G>A NCBI36
NG_009303.1:g.52181G>A , LRG_520:g.52181G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000263121.12:c.983G>A ENSP00000263121.8:p.Arg328Gln
ENST00000344921.11:c.1148G>A ENSP00000340883.6:p.Arg383Gln
ENST00000407422.8:c.1094G>A ENSP00000383984.3:p.Arg365Gln
ENST00000644036.2:c.1121G>A MANE Select ENSP00000494049.2:p.Arg374Gln
ENST00000644462.1:c.1839G>A ENSP00000494283.1:n.1839G>A
ENST00000645799.1:n.2443G>A
ENST00000646723.1:n.3467G>A
ENST00000647057.1:c.*615G>A ENSP00000494757.1:n.*615G>A
ENST00000263121.11:c.1121G>A ENSP00000263121.7:p.Arg374Gln
ENST00000344921.10:c.1148G>A ENSP00000340883.6:p.Arg383Gln
ENST00000407082.3:c.983G>A ENSP00000385226.3:p.Arg328Gln
ENST00000407422.7:c.1094G>A ENSP00000383984.3:p.Arg365Gln
NM_001007468.1:c.1094G>A NP_001007469.1:p.Arg365Gln
NM_003073.3:c.1121G>A , LRG_520t1:c.1121G>A NP_003064.2:p.Arg374Gln
XM_011530345.1:c.1175G>A XP_011528647.1:p.Arg392Gln
XM_011530346.1:c.1148G>A XP_011528648.1:p.Arg383Gln
NM_001007468.2:c.1094G>A NP_001007469.1:p.Arg365Gln
NM_001317946.1:c.1148G>A NP_001304875.1:p.Arg383Gln
NM_001362877.1:c.1175G>A NP_001349806.1:p.Arg392Gln
NM_003073.4:c.1121G>A NP_003064.2:p.Arg374Gln
NM_001007468.3:c.1094G>A NP_001007469.1:p.Arg365Gln
NM_001317946.2:c.1148G>A NP_001304875.1:p.Arg383Gln
NM_001362877.2:c.1175G>A NP_001349806.1:p.Arg392Gln
NM_003073.5:c.1121G>A MANE Select NP_003064.2:p.Arg374Gln