Canonical Allele Identifier: CA2573054982
Community Standard Title: NM_003073.5(SMARCB1):c.500+883T>G
Gene: SMARCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23801964T>G , CM000684.2:g.23801964T>G GRCh38
NC_000022.10:g.24144151T>G , CM000684.1:g.24144151T>G GRCh37
NC_000022.9:g.22474151T>G NCBI36
NG_009303.1:g.20002T>G , LRG_520:g.20002T>G

Transcript Alleles

HGVS Amino-acid Change
NM_003073.5:c.500+883T>G MANE Select NP_003064.2:n.500+883T>G
ENST00000644036.2:c.500+883T>G MANE Select ENSP00000494049.2:n.500+883T>G
NM_001007468.1:c.473+883T>G NP_001007469.1:n.473+883T>G
NM_001007468.2:c.473+883T>G NP_001007469.1:n.473+883T>G
NM_001007468.3:c.473+883T>G NP_001007469.1:n.473+883T>G
NM_001317946.1:c.527+829T>G NP_001304875.1:n.527+829T>G
NM_001317946.2:c.527+829T>G NP_001304875.1:n.527+829T>G
NM_001362877.1:c.554+829T>G NP_001349806.1:n.554+829T>G
NM_001362877.2:c.554+829T>G NP_001349806.1:n.554+829T>G
NM_003073.3:c.500+883T>G , LRG_520t1:c.500+883T>G NP_003064.2:n.500+883T>G
NM_003073.4:c.500+883T>G NP_003064.2:n.500+883T>G
ENST00000263121.11:c.500+883T>G ENSP00000263121.7:n.500+883T>G
ENST00000263121.12:c.363-1331T>G ENSP00000263121.8:n.363-1331T>G
ENST00000344921.10:c.527+829T>G ENSP00000340883.6:n.527+829T>G
ENST00000344921.11:c.527+829T>G ENSP00000340883.6:n.527+829T>G
ENST00000407082.3:c.363-1331T>G ENSP00000385226.3:n.363-1331T>G
ENST00000407082.4:c.336-1331T>G ENSP00000385226.4:n.336-1331T>G
ENST00000407422.7:c.473+883T>G ENSP00000383984.3:n.473+883T>G
ENST00000407422.8:c.473+883T>G ENSP00000383984.3:n.473+883T>G
ENST00000417137.5:c.554+829T>G ENSP00000388489.1:n.554+829T>G
ENST00000417137.6:c.554+829T>G ENSP00000388489.2:n.554+829T>G
ENST00000491967.2:n.1546T>G
ENST00000634926.1:c.241+994T>G
ENST00000635578.1:c.214+994T>G
ENST00000642727.1:c.666T>G ENSP00000495144.1:n.666T>G
ENST00000643421.1:n.468+883T>G
ENST00000644462.1:c.1218T>G ENSP00000494283.1:n.1218T>G
ENST00000644619.1:c.*567T>G ENSP00000494695.1:n.*567T>G
ENST00000646421.1:n.3239T>G
ENST00000646723.1:n.1371T>G
ENST00000646911.1:n.412+883T>G
ENST00000647057.1:c.231+883T>G ENSP00000494757.1:n.231+883T>G
XM_011530345.1:c.554+829T>G XP_011528647.1:n.554+829T>G
XM_011530346.1:c.527+829T>G XP_011528648.1:n.527+829T>G