Canonical Allele Identifier: CA16617529
Gene: SPAST HGNC NCBI

Linked Data

ClinVar Variation Id: 423180
ClinVar RCV Id: RCV000483038
dbSNP Id: rs1064796279

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32136620C>T , CM000664.2:g.32136620C>T GRCh38
NC_000002.11:g.32361689C>T , CM000664.1:g.32361689C>T GRCh37
NC_000002.10:g.32215193C>T NCBI36
NG_008730.1:g.78010C>T , LRG_714:g.78010C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000704289.1:c.*963C>T ENSP00000515816.1:n.*963C>T
ENST00000315285.9:c.1303C>T MANE Select ENSP00000320885.3:p.Pro435Ser
ENST00000621856.2:c.1300C>T ENSP00000482496.2:p.Pro434Ser
ENST00000642281.1:c.1040C>T
ENST00000642455.1:c.1204C>T ENSP00000493827.1:p.Pro402Ser
ENST00000642751.1:c.1077C>T
ENST00000642999.1:c.1045C>T ENSP00000496589.1:p.Pro349Ser
ENST00000643327.1:c.462C>T
ENST00000643334.1:c.883C>T
ENST00000644408.1:c.1179C>T
ENST00000644954.1:c.949C>T ENSP00000494312.1:p.Pro317Ser
ENST00000645159.1:n.2040C>T
ENST00000645671.1:c.753C>T
ENST00000645730.1:c.593-489C>T
ENST00000646082.1:c.949C>T
ENST00000646571.1:c.1207C>T ENSP00000495015.1:p.Pro403Ser
ENST00000647007.1:n.995C>T
ENST00000647133.1:c.803C>T
ENST00000315285.7:c.1303C>T ENSP00000320885.3:p.Pro435Ser
ENST00000345662.5:c.1207C>T ENSP00000340817.1:p.Pro403Ser
ENST00000615843.4:c.1303C>T ENSP00000480893.1:p.Pro435Ser
ENST00000621856.1:c.1045C>T ENSP00000482496.1:p.Pro349Ser
NM_014946.3:c.1303C>T , LRG_714t1:c.1303C>T NP_055761.2:p.Pro435Ser
NM_199436.1:c.1207C>T NP_955468.1:p.Pro403Ser
XM_005264516.3:c.1300C>T XP_005264573.1:p.Pro434Ser
XM_011533067.1:c.1303C>T XP_011531369.1:p.Pro435Ser
NM_001363823.1:c.1300C>T NP_001350752.1:p.Pro434Ser
NM_001363875.1:c.1204C>T NP_001350804.1:p.Pro402Ser
XM_005264516.5:c.1300C>T XP_005264573.1:p.Pro434Ser
XM_011533067.2:c.1303C>T XP_011531369.1:p.Pro435Ser
XM_017004778.2:c.1207C>T XP_016860267.1:p.Pro403Ser
NM_001363823.2:c.1300C>T NP_001350752.1:p.Pro434Ser
NM_001363875.2:c.1204C>T NP_001350804.1:p.Pro402Ser
NM_001377959.1:c.1207C>T NP_001364888.1:p.Pro403Ser
NM_014946.4:c.1303C>T MANE Select NP_055761.2:p.Pro435Ser
NM_199436.2:c.1207C>T NP_955468.1:p.Pro403Ser