Canonical Allele Identifier: CA358251
Gene: SPAST HGNC NCBI

Linked Data

ClinVar Variation Id: 225068
ClinVar RCV Id: RCV000210725
dbSNP Id: rs869312949

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32144954C>G , CM000664.2:g.32144954C>G GRCh38
NC_000002.11:g.32370023C>G , CM000664.1:g.32370023C>G GRCh37
NC_000002.10:g.32223527C>G NCBI36
NG_008730.1:g.86344C>G , LRG_714:g.86344C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000704289.1:c.*1294C>G ENSP00000515816.1:n.*1294C>G
ENST00000315285.9:c.1634C>G MANE Select ENSP00000320885.3:p.Ser545Ter
ENST00000621856.2:c.1631C>G ENSP00000482496.2:p.Ser544Ter
ENST00000642281.1:c.1371C>G
ENST00000642455.1:c.1535C>G ENSP00000493827.1:p.Ser512Ter
ENST00000642751.1:c.1390+1539C>G
ENST00000642999.1:c.1376C>G ENSP00000496589.1:p.Ser459Ter
ENST00000643334.1:c.1214C>G
ENST00000644408.1:c.1510C>G
ENST00000644954.1:c.1280C>G ENSP00000494312.1:p.Ser427Ter
ENST00000645159.1:n.2371C>G
ENST00000645671.1:c.1066+1539C>G
ENST00000645730.1:c.813C>G
ENST00000646082.1:c.1280C>G
ENST00000646571.1:c.1538C>G ENSP00000495015.1:p.Ser513Ter
ENST00000647007.1:n.1326C>G
ENST00000647133.1:c.1134C>G
ENST00000315285.7:c.1634C>G ENSP00000320885.3:p.Ser545Ter
ENST00000345662.5:c.1538C>G ENSP00000340817.1:p.Ser513Ter
ENST00000615843.4:c.1634C>G ENSP00000480893.1:p.Ser545Ter
ENST00000621856.1:c.1376C>G ENSP00000482496.1:p.Ser459Ter
NM_014946.3:c.1634C>G , LRG_714t1:c.1634C>G NP_055761.2:p.Ser545Ter
NM_199436.1:c.1538C>G NP_955468.1:p.Ser513Ter
XM_005264516.3:c.1631C>G XP_005264573.1:p.Ser544Ter
XM_011533067.1:c.1616+1539C>G XP_011531369.1:n.1616+1539C>G
NM_001363823.1:c.1631C>G NP_001350752.1:p.Ser544Ter
NM_001363875.1:c.1535C>G NP_001350804.1:p.Ser512Ter
XM_005264516.5:c.1631C>G XP_005264573.1:p.Ser544Ter
XM_011533067.2:c.1616+1539C>G XP_011531369.1:n.1616+1539C>G
XM_017004778.2:c.1520+1539C>G XP_016860267.1:n.1520+1539C>G
NM_001363823.2:c.1631C>G NP_001350752.1:p.Ser544Ter
NM_001363875.2:c.1535C>G NP_001350804.1:p.Ser512Ter
NM_001377959.1:c.1520+1539C>G NP_001364888.1:n.1520+1539C>G
NM_014946.4:c.1634C>G MANE Select NP_055761.2:p.Ser545Ter
NM_199436.2:c.1538C>G NP_955468.1:p.Ser513Ter