Canonical Allele Identifier: CA2655698048
Gene: SMARCB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23786993T>C , CM000684.2:g.23786993T>C GRCh38
NC_000022.10:g.24129180T>C , CM000684.1:g.24129180T>C GRCh37
NC_000022.9:g.22459180T>C NCBI36
NG_009303.1:g.5031T>C , LRG_520:g.5031T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000344921.11:c.-177T>C ENSP00000340883.6:n.-177T>C
ENST00000407422.8:c.-177T>C ENSP00000383984.3:n.-177T>C
ENST00000491967.2:n.14T>C
ENST00000644036.2:c.-177T>C MANE Select ENSP00000494049.2:n.-177T>C
ENST00000646421.1:n.16T>C
ENST00000647057.1:c.-177T>C ENSP00000494757.1:n.-177T>C
ENST00000263121.11:c.-177T>C ENSP00000263121.7:n.-177T>C
ENST00000344921.10:c.-177T>C ENSP00000340883.6:n.-177T>C
ENST00000417137.5:c.-177T>C ENSP00000388489.1:n.-177T>C
NM_001007468.1:c.-177T>C NP_001007469.1:n.-177T>C
NM_003073.3:c.-177T>C , LRG_520t1:c.-177T>C NP_003064.2:n.-177T>C
XM_011530345.1:c.-177T>C XP_011528647.1:n.-177T>C
XM_011530346.1:c.-177T>C XP_011528648.1:n.-177T>C
NM_001007468.2:c.-177T>C NP_001007469.1:n.-177T>C
NM_001317946.1:c.-177T>C NP_001304875.1:n.-177T>C
NM_001362877.1:c.-177T>C NP_001349806.1:n.-177T>C
NM_003073.4:c.-177T>C NP_003064.2:n.-177T>C
NM_001007468.3:c.-177T>C NP_001007469.1:n.-177T>C
NM_001317946.2:c.-177T>C NP_001304875.1:n.-177T>C
NM_001362877.2:c.-177T>C NP_001349806.1:n.-177T>C
NM_003073.5:c.-177T>C MANE Select NP_003064.2:n.-177T>C