Canonical Allele Identifier: CA346501327
Gene: SPAST HGNC NCBI

Linked Data

ClinVar Variation Id: 1442734
ClinVar RCV Id: RCV001960346
dbSNP Id: rs1553316837

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32127012A>G , CM000664.2:g.32127012A>G GRCh38
NC_000002.11:g.32352081A>G , CM000664.1:g.32352081A>G GRCh37
NC_000002.10:g.32205585A>G NCBI36
NG_008730.1:g.68402A>G , LRG_714:g.68402A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.*823A>G ENSP00000515816.1:n.*823A>G
ENST00000315285.9:c.1163A>G MANE Select ENSP00000320885.3:p.Lys388Arg
ENST00000621856.2:c.1160A>G ENSP00000482496.2:p.Lys387Arg
ENST00000642281.1:c.983-9551A>G
ENST00000642455.1:c.1064A>G ENSP00000493827.1:p.Lys355Arg
ENST00000642751.1:c.937A>G
ENST00000642999.1:c.905A>G ENSP00000496589.1:p.Lys302Arg
ENST00000643327.1:c.322A>G
ENST00000643334.1:c.743A>G
ENST00000644408.1:c.1039A>G
ENST00000644954.1:c.809A>G ENSP00000494312.1:p.Lys270Arg
ENST00000645159.1:n.515A>G
ENST00000645550.1:n.376A>G
ENST00000645671.1:c.613A>G
ENST00000645730.1:c.510A>G
ENST00000646082.1:c.809A>G
ENST00000646571.1:c.1067A>G ENSP00000495015.1:p.Lys356Arg
ENST00000647007.1:n.855A>G
ENST00000647133.1:c.674-1396A>G
ENST00000315285.7:c.1163A>G ENSP00000320885.3:p.Lys388Arg
ENST00000345662.5:c.1067A>G ENSP00000340817.1:p.Lys356Arg
ENST00000615843.4:c.1163A>G ENSP00000480893.1:p.Lys388Arg
ENST00000621856.1:c.905A>G ENSP00000482496.1:p.Lys302Arg
NM_014946.3:c.1163A>G , LRG_714t1:c.1163A>G NP_055761.2:p.Lys388Arg
NM_199436.1:c.1067A>G NP_955468.1:p.Lys356Arg
XM_005264516.3:c.1160A>G XP_005264573.1:p.Lys387Arg
XM_011533067.1:c.1163A>G XP_011531369.1:p.Lys388Arg
NM_001363823.1:c.1160A>G NP_001350752.1:p.Lys387Arg
NM_001363875.1:c.1064A>G NP_001350804.1:p.Lys355Arg
XM_005264516.5:c.1160A>G XP_005264573.1:p.Lys387Arg
XM_011533067.2:c.1163A>G XP_011531369.1:p.Lys388Arg
XM_017004778.2:c.1067A>G XP_016860267.1:p.Lys356Arg
NM_001363823.2:c.1160A>G NP_001350752.1:p.Lys387Arg
NM_001363875.2:c.1064A>G NP_001350804.1:p.Lys355Arg
NM_001377959.1:c.1067A>G NP_001364888.1:p.Lys356Arg
NM_014946.4:c.1163A>G MANE Select NP_055761.2:p.Lys388Arg
NM_199436.2:c.1067A>G NP_955468.1:p.Lys356Arg