Canonical Allele Identifier: CA346498808
Gene: SPAST HGNC NCBI

Linked Data

ClinVar Variation Id: 448456
dbSNP Id: rs1553314948

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32114793C>T , CM000664.2:g.32114793C>T GRCh38
NC_000002.11:g.32339862C>T , CM000664.1:g.32339862C>T GRCh37
NC_000002.10:g.32193366C>T NCBI36
NG_008730.1:g.56183C>T , LRG_714:g.56183C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.*498C>T ENSP00000515816.1:n.*498C>T
ENST00000315285.9:c.838C>T MANE Select ENSP00000320885.3:p.Gln280Ter
ENST00000621856.2:c.835C>T ENSP00000482496.2:p.Gln279Ter
ENST00000642281.1:c.722C>T
ENST00000642455.1:c.739C>T ENSP00000493827.1:p.Gln247Ter
ENST00000642751.1:c.612C>T
ENST00000642999.1:c.580C>T ENSP00000496589.1:p.Gln194Ter
ENST00000643334.1:c.418C>T
ENST00000644408.1:c.714C>T
ENST00000644954.1:c.484C>T ENSP00000494312.1:p.Gln162Ter
ENST00000645671.1:c.288C>T
ENST00000645730.1:c.185C>T
ENST00000646082.1:c.517-909C>T
ENST00000646571.1:c.742C>T ENSP00000495015.1:p.Gln248Ter
ENST00000647007.1:n.530C>T
ENST00000647133.1:c.413C>T
ENST00000315285.7:c.838C>T ENSP00000320885.3:p.Gln280Ter
ENST00000345662.5:c.742C>T ENSP00000340817.1:p.Gln248Ter
ENST00000615843.4:c.838C>T ENSP00000480893.1:p.Gln280Ter
ENST00000621856.1:c.580C>T ENSP00000482496.1:p.Gln194Ter
NM_014946.3:c.838C>T , LRG_714t1:c.838C>T NP_055761.2:p.Gln280Ter
NM_199436.1:c.742C>T NP_955468.1:p.Gln248Ter
XM_005264516.3:c.835C>T XP_005264573.1:p.Gln279Ter
XM_011533067.1:c.838C>T XP_011531369.1:p.Gln280Ter
NM_001363823.1:c.835C>T NP_001350752.1:p.Gln279Ter
NM_001363875.1:c.739C>T NP_001350804.1:p.Gln247Ter
XM_005264516.5:c.835C>T XP_005264573.1:p.Gln279Ter
XM_011533067.2:c.838C>T XP_011531369.1:p.Gln280Ter
XM_017004778.2:c.742C>T XP_016860267.1:p.Gln248Ter
NM_001363823.2:c.835C>T NP_001350752.1:p.Gln279Ter
NM_001363875.2:c.739C>T NP_001350804.1:p.Gln247Ter
NM_001377959.1:c.742C>T NP_001364888.1:p.Gln248Ter
NM_014946.4:c.838C>T MANE Select NP_055761.2:p.Gln280Ter
NM_199436.2:c.742C>T NP_955468.1:p.Gln248Ter