Canonical Allele Identifier: CA346505634
Gene: SPAST HGNC NCBI

Linked Data

dbSNP Id: rs1553321245

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32154428A>C , CM000664.2:g.32154428A>C GRCh38
NC_000002.11:g.32379497A>C , CM000664.1:g.32379497A>C GRCh37
NC_000002.10:g.32233001A>C NCBI36
NG_008730.1:g.95818A>C , LRG_714:g.95818A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.*1443A>C ENSP00000515816.1:n.*1443A>C
ENST00000315285.9:c.1783A>C MANE Select ENSP00000320885.3:p.Ser595Arg
ENST00000621856.2:c.1780A>C ENSP00000482496.2:p.Ser594Arg
ENST00000642281.1:c.1520A>C
ENST00000642455.1:c.1684A>C ENSP00000493827.1:p.Ser562Arg
ENST00000642751.1:c.1486A>C
ENST00000642999.1:c.1525A>C ENSP00000496589.1:p.Ser509Arg
ENST00000643334.1:c.1363A>C
ENST00000644408.1:c.1682A>C
ENST00000644954.1:c.1429A>C ENSP00000494312.1:p.Ser477Arg
ENST00000645159.1:n.2520A>C
ENST00000645671.1:c.1162A>C
ENST00000645730.1:c.962A>C
ENST00000646082.1:c.1429A>C
ENST00000646571.1:c.1687A>C ENSP00000495015.1:p.Ser563Arg
ENST00000647007.1:n.1475A>C
ENST00000647133.1:c.1283A>C
ENST00000315285.7:c.1783A>C ENSP00000320885.3:p.Ser595Arg
ENST00000345662.5:c.1687A>C ENSP00000340817.1:p.Ser563Arg
ENST00000615843.4:c.1783A>C ENSP00000480893.1:p.Ser595Arg
ENST00000621856.1:c.1525A>C ENSP00000482496.1:p.Ser509Arg
NM_014946.3:c.1783A>C , LRG_714t1:c.1783A>C NP_055761.2:p.Ser595Arg
NM_199436.1:c.1687A>C NP_955468.1:p.Ser563Arg
XM_005264516.3:c.1780A>C XP_005264573.1:p.Ser594Arg
NM_001363823.1:c.1780A>C NP_001350752.1:p.Ser594Arg
NM_001363875.1:c.1684A>C NP_001350804.1:p.Ser562Arg
XM_005264516.5:c.1780A>C XP_005264573.1:p.Ser594Arg
XM_011533067.2:c.*56A>C XP_011531369.1:n.*56A>C
XM_017004778.2:c.*56A>C XP_016860267.1:n.*56A>C
NM_001363823.2:c.1780A>C NP_001350752.1:p.Ser594Arg
NM_001363875.2:c.1684A>C NP_001350804.1:p.Ser562Arg
NM_001377959.1:c.*56A>C NP_001364888.1:n.*56A>C
NM_014946.4:c.1783A>C MANE Select NP_055761.2:p.Ser595Arg
NM_199436.2:c.1687A>C NP_955468.1:p.Ser563Arg