Canonical Allele Identifier: CA334274
Gene: SPAST HGNC NCBI

Identifiers and link-outs to other resources

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
NM_014946.3:c.1165A>G , LRG_714t1:c.1165A>G NP_055761.2:p.Thr389Ala
NM_199436.1:c.1069A>G VV 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 VV NP_001350752.1:p.Thr388Ala
NM_001363875.1:c.1066A>G VV NP_001350804.1:p.Thr356Ala
XM_005264516.5:n.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
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