Canonical Allele Identifier: CA334274
Gene: SPAST HGNC NCBI

Linked Data

ClinVar Variation Id: 188190
ClinVar RCV Id: RCV000168104
dbSNP Id: rs786204132

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32127014A>G , CM000664.2:g.32127014A>G GRCh38
NC_000002.11:g.32352083A>G , CM000664.1:g.32352083A>G GRCh37
NC_000002.10:g.32205587A>G NCBI36
NG_008730.1:g.68404A>G , LRG_714:g.68404A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000704289.1:c.*825A>G ENSP00000515816.1:n.*825A>G
ENST00000315285.9:c.1165A>G MANE Select ENSP00000320885.3:p.Thr389Ala
ENST00000621856.2:c.1162A>G ENSP00000482496.2:p.Thr388Ala
ENST00000642281.1:c.983-9549A>G
ENST00000642455.1:c.1066A>G ENSP00000493827.1:p.Thr356Ala
ENST00000642751.1:c.939A>G
ENST00000642999.1:c.907A>G ENSP00000496589.1:p.Thr303Ala
ENST00000643327.1:c.324A>G
ENST00000643334.1:c.745A>G
ENST00000644408.1:c.1041A>G
ENST00000644954.1:c.811A>G ENSP00000494312.1:p.Thr271Ala
ENST00000645159.1:n.517A>G
ENST00000645550.1:n.378A>G
ENST00000645671.1:c.615A>G
ENST00000645730.1:c.512A>G
ENST00000646082.1:c.811A>G
ENST00000646571.1:c.1069A>G ENSP00000495015.1:p.Thr357Ala
ENST00000647007.1:n.857A>G
ENST00000647133.1:c.674-1394A>G
ENST00000315285.7:c.1165A>G ENSP00000320885.3:p.Thr389Ala
ENST00000345662.5:c.1069A>G ENSP00000340817.1:p.Thr357Ala
ENST00000615843.4:c.1165A>G ENSP00000480893.1:p.Thr389Ala
ENST00000621856.1:c.907A>G ENSP00000482496.1:p.Thr303Ala
NM_014946.3:c.1165A>G , LRG_714t1:c.1165A>G NP_055761.2:p.Thr389Ala
NM_199436.1:c.1069A>G NP_955468.1:p.Thr357Ala
XM_005264516.3:c.1162A>G XP_005264573.1:p.Thr388Ala
XM_011533067.1:c.1165A>G XP_011531369.1:p.Thr389Ala
NM_001363823.1:c.1162A>G NP_001350752.1:p.Thr388Ala
NM_001363875.1:c.1066A>G NP_001350804.1:p.Thr356Ala
XM_005264516.5:c.1162A>G XP_005264573.1:p.Thr388Ala
XM_011533067.2:c.1165A>G XP_011531369.1:p.Thr389Ala
XM_017004778.2:c.1069A>G XP_016860267.1:p.Thr357Ala
NM_001363823.2:c.1162A>G NP_001350752.1:p.Thr388Ala
NM_001363875.2:c.1066A>G NP_001350804.1:p.Thr356Ala
NM_001377959.1:c.1069A>G NP_001364888.1:p.Thr357Ala
NM_014946.4:c.1165A>G MANE Select NP_055761.2:p.Thr389Ala
NM_199436.2:c.1069A>G NP_955468.1:p.Thr357Ala