Canonical Allele Identifier: CA346501304
Gene: SPAST HGNC NCBI

Linked Data

ClinVar Variation Id: 2504198

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32127002G>A , CM000664.2:g.32127002G>A GRCh38
NC_000002.11:g.32352071G>A , CM000664.1:g.32352071G>A GRCh37
NC_000002.10:g.32205575G>A NCBI36
NG_008730.1:g.68392G>A , LRG_714:g.68392G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.*813G>A ENSP00000515816.1:n.*813G>A
ENST00000315285.9:c.1153G>A MANE Select ENSP00000320885.3:p.Gly385Arg
ENST00000621856.2:c.1150G>A ENSP00000482496.2:p.Gly384Arg
ENST00000642281.1:c.983-9561G>A
ENST00000642455.1:c.1054G>A ENSP00000493827.1:p.Gly352Arg
ENST00000642751.1:c.927G>A
ENST00000642999.1:c.895G>A ENSP00000496589.1:p.Gly299Arg
ENST00000643327.1:c.312G>A
ENST00000643334.1:c.733G>A
ENST00000644408.1:c.1029G>A
ENST00000644954.1:c.799G>A ENSP00000494312.1:p.Gly267Arg
ENST00000645159.1:n.505G>A
ENST00000645550.1:n.366G>A
ENST00000645671.1:c.603G>A
ENST00000645730.1:c.500G>A
ENST00000646082.1:c.799G>A
ENST00000646571.1:c.1057G>A ENSP00000495015.1:p.Gly353Arg
ENST00000647007.1:n.845G>A
ENST00000647133.1:c.674-1406G>A
ENST00000315285.7:c.1153G>A ENSP00000320885.3:p.Gly385Arg
ENST00000345662.5:c.1057G>A ENSP00000340817.1:p.Gly353Arg
ENST00000615843.4:c.1153G>A ENSP00000480893.1:p.Gly385Arg
ENST00000621856.1:c.895G>A ENSP00000482496.1:p.Gly299Arg
NM_014946.3:c.1153G>A , LRG_714t1:c.1153G>A NP_055761.2:p.Gly385Arg
NM_199436.1:c.1057G>A NP_955468.1:p.Gly353Arg
XM_005264516.3:c.1150G>A XP_005264573.1:p.Gly384Arg
XM_011533067.1:c.1153G>A XP_011531369.1:p.Gly385Arg
NM_001363823.1:c.1150G>A NP_001350752.1:p.Gly384Arg
NM_001363875.1:c.1054G>A NP_001350804.1:p.Gly352Arg
XM_005264516.5:c.1150G>A XP_005264573.1:p.Gly384Arg
XM_011533067.2:c.1153G>A XP_011531369.1:p.Gly385Arg
XM_017004778.2:c.1057G>A XP_016860267.1:p.Gly353Arg
NM_001363823.2:c.1150G>A NP_001350752.1:p.Gly384Arg
NM_001363875.2:c.1054G>A NP_001350804.1:p.Gly352Arg
NM_001377959.1:c.1057G>A NP_001364888.1:p.Gly353Arg
NM_014946.4:c.1153G>A MANE Select NP_055761.2:p.Gly385Arg
NM_199436.2:c.1057G>A NP_955468.1:p.Gly353Arg