Canonical Allele Identifier: CA16042409
Gene: SPAST HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372769
ClinVar RCV Id: RCV000412810
dbSNP Id: rs1057517974

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32089590del , CM000664.2:g.32089590del GRCh38
NC_000002.11:g.32314659del , CM000664.1:g.32314659del GRCh37
NC_000002.10:g.32168163del NCBI36
NG_008730.1:g.30980del , LRG_714:g.30980del

Transcript Alleles

HGVS Amino-acid change
NM_014946.3:c.571del , LRG_714t1:c.571del NP_055761.2:p.Arg191AlafsTer5
NM_199436.1:c.571del VV NP_955468.1:p.Arg191AlafsTer5
XM_005264516.3:c.568del XP_005264573.1:p.Arg190AlafsTer5
XM_011533067.1:c.571del XP_011531369.1:p.Arg191AlafsTer5
NM_001363823.1:c.568del VV NP_001350752.1:p.Arg190AlafsTer5
NM_001363875.1:c.568del VV NP_001350804.1:p.Arg190AlafsTer5
XM_005264516.5:n.568del XP_005264573.1:p.Arg190AlafsTer5
XM_011533067.2:c.571del XP_011531369.1:p.Arg191AlafsTer5
XM_017004778.2:c.571del XP_016860267.1:p.Arg191AlafsTer5
ENST00000315285.7:c.571del ENSP00000320885.3:p.Arg191AlafsTer5
ENST00000345662.5:c.571del ENSP00000340817.1:p.Arg191AlafsTer5
ENST00000615843.4:c.571del ENSP00000480893.1:p.Arg191AlafsTer5
ENST00000621856.1:c.313del ENSP00000482496.1:p.Arg105AlafsTer5