Canonical Allele Identifier: CA346501497
Gene: SPAST HGNC NCBI

Linked Data

ClinVar Variation Id: 2672806
ClinVar RCV Id: RCV003457060

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32128469C>T , CM000664.2:g.32128469C>T GRCh38
NC_000002.11:g.32353538C>T , CM000664.1:g.32353538C>T GRCh37
NC_000002.10:g.32207042C>T NCBI36
NG_008730.1:g.69859C>T , LRG_714:g.69859C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.*895C>T ENSP00000515816.1:n.*895C>T
ENST00000315285.9:c.1235C>T MANE Select ENSP00000320885.3:p.Thr412Ile
ENST00000621856.2:c.1232C>T ENSP00000482496.2:p.Thr411Ile
ENST00000642281.1:c.983-8094C>T
ENST00000642455.1:c.1136C>T ENSP00000493827.1:p.Thr379Ile
ENST00000642751.1:c.1009C>T
ENST00000642999.1:c.977C>T ENSP00000496589.1:p.Thr326Ile
ENST00000643327.1:c.394C>T
ENST00000643334.1:c.815C>T
ENST00000644408.1:c.1111C>T
ENST00000644954.1:c.881C>T ENSP00000494312.1:p.Thr294Ile
ENST00000645159.1:n.1972C>T
ENST00000645550.1:n.448C>T
ENST00000645671.1:c.685C>T
ENST00000645730.1:c.582C>T
ENST00000646082.1:c.881C>T
ENST00000646571.1:c.1139C>T ENSP00000495015.1:p.Thr380Ile
ENST00000647007.1:n.927C>T
ENST00000647133.1:c.735C>T
ENST00000315285.7:c.1235C>T ENSP00000320885.3:p.Thr412Ile
ENST00000345662.5:c.1139C>T ENSP00000340817.1:p.Thr380Ile
ENST00000615843.4:c.1235C>T ENSP00000480893.1:p.Thr412Ile
ENST00000621856.1:c.977C>T ENSP00000482496.1:p.Thr326Ile
NM_014946.3:c.1235C>T , LRG_714t1:c.1235C>T NP_055761.2:p.Thr412Ile
NM_199436.1:c.1139C>T NP_955468.1:p.Thr380Ile
XM_005264516.3:c.1232C>T XP_005264573.1:p.Thr411Ile
XM_011533067.1:c.1235C>T XP_011531369.1:p.Thr412Ile
NM_001363823.1:c.1232C>T NP_001350752.1:p.Thr411Ile
NM_001363875.1:c.1136C>T NP_001350804.1:p.Thr379Ile
XM_005264516.5:c.1232C>T XP_005264573.1:p.Thr411Ile
XM_011533067.2:c.1235C>T XP_011531369.1:p.Thr412Ile
XM_017004778.2:c.1139C>T XP_016860267.1:p.Thr380Ile
NM_001363823.2:c.1232C>T NP_001350752.1:p.Thr411Ile
NM_001363875.2:c.1136C>T NP_001350804.1:p.Thr379Ile
NM_001377959.1:c.1139C>T NP_001364888.1:p.Thr380Ile
NM_014946.4:c.1235C>T MANE Select NP_055761.2:p.Thr412Ile
NM_199436.2:c.1139C>T NP_955468.1:p.Thr380Ile