Canonical Allele Identifier: CA119228
Gene: SMARCB1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 8026
ClinVar RCV Id: RCV000008490
dbSNP Id: rs74315513

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23787203C>T , CM000684.2:g.23787203C>T GRCh38
NC_000022.10:g.24129390C>T , CM000684.1:g.24129390C>T GRCh37
NC_000022.9:g.22459390C>T NCBI36
NG_009303.1:g.5241C>T , LRG_520:g.5241C>T

Transcript Alleles

HGVS Amino-acid change
NM_001007468.1:c.34C>T VV NP_001007469.1:p.Gln12Ter
NM_003073.3:c.34C>T , LRG_520t1:c.34C>T NP_003064.2:p.Gln12Ter
XM_011530345.1:c.34C>T XP_011528647.1:p.Gln12Ter
XM_011530346.1:c.34C>T XP_011528648.1:p.Gln12Ter
NM_001007468.2:c.34C>T VV NP_001007469.1:p.Gln12Ter
NM_001317946.1:c.34C>T VV NP_001304875.1:p.Gln12Ter
NM_001362877.1:c.34C>T VV NP_001349806.1:p.Gln12Ter
NM_003073.4:c.34C>T VV NP_003064.2:p.Gln12Ter
ENST00000263121.11:c.34C>T ENSP00000263121.7:p.Gln12Ter
ENST00000344921.10:c.34C>T ENSP00000340883.6:p.Gln12Ter
ENST00000407082.3:c.34C>T ENSP00000385226.3:p.Gln12Ter
ENST00000407422.7:c.34C>T ENSP00000383984.3:p.Gln12Ter
ENST00000417137.5:c.34C>T ENSP00000388489.1:p.Gln12Ter