Canonical Allele Identifier: CA246067
Gene: SMARCB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 197749
dbSNP Id: rs757546528

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23803379C>T , CM000684.2:g.23803379C>T GRCh38
NC_000022.10:g.24145566C>T , CM000684.1:g.24145566C>T GRCh37
NC_000022.9:g.22475566C>T NCBI36
NG_009303.1:g.21417C>T , LRG_520:g.21417C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000263121.12:c.447C>T ENSP00000263121.8:p.Ile149=
ENST00000344921.11:c.612C>T ENSP00000340883.6:p.Ile204=
ENST00000407082.4:c.420C>T ENSP00000385226.4:p.Ile140=
ENST00000407422.8:c.558C>T ENSP00000383984.3:p.Ile186=
ENST00000417137.6:c.639C>T ENSP00000388489.2:p.Ile213=
ENST00000642275.1:n.833C>T
ENST00000642727.1:c.751C>T ENSP00000495144.1:n.751C>T
ENST00000643421.1:n.553C>T
ENST00000644036.2:c.585C>T MANE Select ENSP00000494049.2:p.Ile195=
ENST00000644462.1:c.1303C>T ENSP00000494283.1:n.1303C>T
ENST00000644467.1:n.1379C>T
ENST00000644619.1:c.*652C>T ENSP00000494695.1:n.*652C>T
ENST00000646723.1:n.2786C>T
ENST00000646911.1:n.497C>T
ENST00000647057.1:c.*79C>T ENSP00000494757.1:n.*79C>T
ENST00000263121.11:c.585C>T ENSP00000263121.7:p.Ile195=
ENST00000344921.10:c.612C>T ENSP00000340883.6:p.Ile204=
ENST00000407082.3:c.447C>T ENSP00000385226.3:p.Ile149=
ENST00000407422.7:c.558C>T ENSP00000383984.3:p.Ile186=
ENST00000417137.5:c.639C>T ENSP00000388489.1:p.Ile213=
NM_001007468.1:c.558C>T NP_001007469.1:p.Ile186=
NM_003073.3:c.585C>T , LRG_520t1:c.585C>T NP_003064.2:p.Ile195=
XM_011530345.1:c.639C>T XP_011528647.1:p.Ile213=
XM_011530346.1:c.612C>T XP_011528648.1:p.Ile204=
NM_001007468.2:c.558C>T NP_001007469.1:p.Ile186=
NM_001317946.1:c.612C>T NP_001304875.1:p.Ile204=
NM_001362877.1:c.639C>T NP_001349806.1:p.Ile213=
NM_003073.4:c.585C>T NP_003064.2:p.Ile195=
NM_001007468.3:c.558C>T NP_001007469.1:p.Ile186=
NM_001317946.2:c.612C>T NP_001304875.1:p.Ile204=
NM_001362877.2:c.639C>T NP_001349806.1:p.Ile213=
NM_003073.5:c.585C>T MANE Select NP_003064.2:p.Ile195=