Canonical Allele Identifier: CA145398
Gene: SMARCB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 88893
ClinVar RCV Id: RCV000074462 RCV000262341 RCV001533133 RCV004556052
dbSNP Id: rs398122368
MyVariant Identifiers: chr22:g.24133959G>A (hg19) chr22:g.23791772G>A (hg38)
PubMed: PMID:22726846
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23791772G>A , CM000684.2:g.23791772G>A GRCh38
NC_000022.10:g.24133959G>A , CM000684.1:g.24133959G>A GRCh37
NC_000022.9:g.22463959G>A NCBI36
NG_009303.1:g.9810G>A , LRG_520:g.9810G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263121.12:c.110G>A ENSP00000263121.8:p.Arg37His
ENST00000344921.11:c.110G>A ENSP00000340883.6:p.Arg37His
ENST00000407082.4:c.110G>A ENSP00000385226.4:p.Arg37His
ENST00000407422.8:c.110G>A ENSP00000383984.3:p.Arg37His
ENST00000417137.6:c.110G>A ENSP00000388489.2:p.Arg37His
ENST00000491967.2:n.300G>A
ENST00000643421.1:n.78G>A
ENST00000644036.2:c.110G>A MANE Select ENSP00000494049.2:p.Arg37His
ENST00000644619.1:c.110G>A ENSP00000494695.1:p.Arg37His
ENST00000646421.1:n.302G>A
ENST00000646723.1:n.98G>A
ENST00000646911.1:n.22G>A
ENST00000647057.1:c.93+4510G>A ENSP00000494757.1:n.93+4510G>A
ENST00000263121.11:c.110G>A ENSP00000263121.7:p.Arg37His
ENST00000344921.10:c.110G>A ENSP00000340883.6:p.Arg37His
ENST00000407082.3:c.110G>A ENSP00000385226.3:p.Arg37His
ENST00000407422.7:c.110G>A ENSP00000383984.3:p.Arg37His
ENST00000417137.5:c.110G>A ENSP00000388489.1:p.Arg37His
NM_001007468.1:c.110G>A NP_001007469.1:p.Arg37His
NM_003073.3:c.110G>A , LRG_520t1:c.110G>A NP_003064.2:p.Arg37His
XM_011530345.1:c.110G>A XP_011528647.1:p.Arg37His
XM_011530346.1:c.110G>A XP_011528648.1:p.Arg37His
NM_001007468.2:c.110G>A NP_001007469.1:p.Arg37His
NM_001317946.1:c.110G>A NP_001304875.1:p.Arg37His
NM_001362877.1:c.110G>A NP_001349806.1:p.Arg37His
NM_003073.4:c.110G>A NP_003064.2:p.Arg37His
NM_001007468.3:c.110G>A NP_001007469.1:p.Arg37His
NM_001317946.2:c.110G>A NP_001304875.1:p.Arg37His
NM_001362877.2:c.110G>A NP_001349806.1:p.Arg37His
NM_003073.5:c.110G>A MANE Select NP_003064.2:p.Arg37His
Search 100 bp 5'
Search 100 bp 3'