Canonical Allele Identifier: CA253551
Gene: SPAST HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 5660
dbSNP Id: rs121908511
COSMIC: COSM375319

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32141905C>T , CM000664.2:g.32141905C>T GRCh38
NC_000002.11:g.32366974C>T , CM000664.1:g.32366974C>T GRCh37
NC_000002.10:g.32220478C>T NCBI36
NG_008730.1:g.83295C>T , LRG_714:g.83295C>T

Transcript Alleles

HGVS Amino-acid change
NM_014946.3:c.1495C>T , LRG_714t1:c.1495C>T NP_055761.2:p.Arg499Cys
NM_199436.1:c.1399C>T VV NP_955468.1:p.Arg467Cys
XM_005264516.3:c.1492C>T XP_005264573.1:p.Arg498Cys
XM_011533067.1:c.1495C>T XP_011531369.1:p.Arg499Cys
NM_001363823.1:c.1492C>T VV NP_001350752.1:p.Arg498Cys
NM_001363875.1:c.1396C>T VV NP_001350804.1:p.Arg466Cys
XM_005264516.5:n.1492C>T XP_005264573.1:p.Arg498Cys
XM_011533067.2:c.1495C>T XP_011531369.1:p.Arg499Cys
XM_017004778.2:c.1399C>T XP_016860267.1:p.Arg467Cys
ENST00000315285.7:c.1495C>T ENSP00000320885.3:p.Arg499Cys
ENST00000345662.5:c.1399C>T ENSP00000340817.1:p.Arg467Cys
ENST00000615843.4:c.1495C>T ENSP00000480893.1:p.Arg499Cys
ENST00000621856.1:c.1237C>T ENSP00000482496.1:p.Arg413Cys