Canonical Allele Identifier: CA346501306
Gene: SPAST HGNC NCBI

Linked Data

ClinVar Variation Id: 1701376
ClinVar RCV Id: RCV002276072
dbSNP Id: rs2148745015

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.*813G>T ENSP00000515816.1:n.*813G>T
ENST00000315285.9:c.1153G>T MANE Select ENSP00000320885.3:p.Gly385Trp
ENST00000621856.2:c.1150G>T ENSP00000482496.2:p.Gly384Trp
ENST00000642281.1:c.983-9561G>T
ENST00000642455.1:c.1054G>T ENSP00000493827.1:p.Gly352Trp
ENST00000642751.1:c.927G>T
ENST00000642999.1:c.895G>T ENSP00000496589.1:p.Gly299Trp
ENST00000643327.1:c.312G>T
ENST00000643334.1:c.733G>T
ENST00000644408.1:c.1029G>T
ENST00000644954.1:c.799G>T ENSP00000494312.1:p.Gly267Trp
ENST00000645159.1:n.505G>T
ENST00000645550.1:n.366G>T
ENST00000645671.1:c.603G>T
ENST00000645730.1:c.500G>T
ENST00000646082.1:c.799G>T
ENST00000646571.1:c.1057G>T ENSP00000495015.1:p.Gly353Trp
ENST00000647007.1:n.845G>T
ENST00000647133.1:c.674-1406G>T
ENST00000315285.7:c.1153G>T ENSP00000320885.3:p.Gly385Trp
ENST00000345662.5:c.1057G>T ENSP00000340817.1:p.Gly353Trp
ENST00000615843.4:c.1153G>T ENSP00000480893.1:p.Gly385Trp
ENST00000621856.1:c.895G>T ENSP00000482496.1:p.Gly299Trp
NM_014946.3:c.1153G>T , LRG_714t1:c.1153G>T NP_055761.2:p.Gly385Trp
NM_199436.1:c.1057G>T NP_955468.1:p.Gly353Trp
XM_005264516.3:c.1150G>T XP_005264573.1:p.Gly384Trp
XM_011533067.1:c.1153G>T XP_011531369.1:p.Gly385Trp
NM_001363823.1:c.1150G>T NP_001350752.1:p.Gly384Trp
NM_001363875.1:c.1054G>T NP_001350804.1:p.Gly352Trp
XM_005264516.5:c.1150G>T XP_005264573.1:p.Gly384Trp
XM_011533067.2:c.1153G>T XP_011531369.1:p.Gly385Trp
XM_017004778.2:c.1057G>T XP_016860267.1:p.Gly353Trp
NM_001363823.2:c.1150G>T NP_001350752.1:p.Gly384Trp
NM_001363875.2:c.1054G>T NP_001350804.1:p.Gly352Trp
NM_001377959.1:c.1057G>T NP_001364888.1:p.Gly353Trp
NM_014946.4:c.1153G>T MANE Select NP_055761.2:p.Gly385Trp
NM_199436.2:c.1057G>T NP_955468.1:p.Gly353Trp