Canonical Allele Identifier: CA209485
Gene: SMARCB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 212263
ClinVar RCV Id: RCV000194966 RCV000515012
dbSNP Id: rs797045989
MyVariant Identifiers: chr22:g.24175859A>G (hg19) chr22:g.23833672A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23833672A>G , CM000684.2:g.23833672A>G GRCh38
NC_000022.10:g.24175859A>G , CM000684.1:g.24175859A>G GRCh37
NC_000022.9:g.22505859A>G NCBI36
NG_009303.1:g.51710A>G , LRG_520:g.51710A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000263121.12:c.949A>G ENSP00000263121.8:p.Lys317Glu
ENST00000344921.11:c.1114A>G ENSP00000340883.6:p.Lys372Glu
ENST00000407422.8:c.1060A>G ENSP00000383984.3:p.Lys354Glu
ENST00000644036.2:c.1087A>G MANE Select ENSP00000494049.2:p.Lys363Glu
ENST00000644462.1:c.1805A>G ENSP00000494283.1:n.1805A>G
ENST00000645799.1:n.2409A>G
ENST00000646723.1:n.3433A>G
ENST00000647057.1:c.*581A>G ENSP00000494757.1:n.*581A>G
ENST00000263121.11:c.1087A>G ENSP00000263121.7:p.Lys363Glu
ENST00000344921.10:c.1114A>G ENSP00000340883.6:p.Lys372Glu
ENST00000407082.3:c.949A>G ENSP00000385226.3:p.Lys317Glu
ENST00000407422.7:c.1060A>G ENSP00000383984.3:p.Lys354Glu
NM_001007468.1:c.1060A>G NP_001007469.1:p.Lys354Glu
NM_003073.3:c.1087A>G , LRG_520t1:c.1087A>G NP_003064.2:p.Lys363Glu
XM_011530345.1:c.1141A>G XP_011528647.1:p.Lys381Glu
XM_011530346.1:c.1114A>G XP_011528648.1:p.Lys372Glu
NM_001007468.2:c.1060A>G NP_001007469.1:p.Lys354Glu
NM_001317946.1:c.1114A>G NP_001304875.1:p.Lys372Glu
NM_001362877.1:c.1141A>G NP_001349806.1:p.Lys381Glu
NM_003073.4:c.1087A>G NP_003064.2:p.Lys363Glu
NM_001007468.3:c.1060A>G NP_001007469.1:p.Lys354Glu
NM_001317946.2:c.1114A>G NP_001304875.1:p.Lys372Glu
NM_001362877.2:c.1141A>G NP_001349806.1:p.Lys381Glu
NM_003073.5:c.1087A>G MANE Select NP_003064.2:p.Lys363Glu
Search 100 bp 5'
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