Canonical Allele Identifier: CA346501279
Gene: SPAST HGNC NCBI

Linked Data

ClinVar Variation Id: 1390387
ClinVar RCV Id: RCV001889536
dbSNP Id: rs1553316821

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32126990T>G , CM000664.2:g.32126990T>G GRCh38
NC_000002.11:g.32352059T>G , CM000664.1:g.32352059T>G GRCh37
NC_000002.10:g.32205563T>G NCBI36
NG_008730.1:g.68380T>G , LRG_714:g.68380T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.*801T>G ENSP00000515816.1:n.*801T>G
ENST00000315285.9:c.1141T>G MANE Select ENSP00000320885.3:p.Phe381Val
ENST00000621856.2:c.1138T>G ENSP00000482496.2:p.Phe380Val
ENST00000642281.1:c.983-9573T>G
ENST00000642455.1:c.1042T>G ENSP00000493827.1:p.Phe348Val
ENST00000642751.1:c.915T>G
ENST00000642999.1:c.883T>G ENSP00000496589.1:p.Phe295Val
ENST00000643327.1:c.300T>G
ENST00000643334.1:c.721T>G
ENST00000644408.1:c.1017T>G
ENST00000644954.1:c.787T>G ENSP00000494312.1:p.Phe263Val
ENST00000645159.1:n.493T>G
ENST00000645550.1:n.354T>G
ENST00000645671.1:c.591T>G
ENST00000645730.1:c.488T>G
ENST00000646082.1:c.787T>G
ENST00000646571.1:c.1045T>G ENSP00000495015.1:p.Phe349Val
ENST00000647007.1:n.833T>G
ENST00000647133.1:c.674-1418T>G
ENST00000315285.7:c.1141T>G ENSP00000320885.3:p.Phe381Val
ENST00000345662.5:c.1045T>G ENSP00000340817.1:p.Phe349Val
ENST00000615843.4:c.1141T>G ENSP00000480893.1:p.Phe381Val
ENST00000621856.1:c.883T>G ENSP00000482496.1:p.Phe295Val
NM_014946.3:c.1141T>G , LRG_714t1:c.1141T>G NP_055761.2:p.Phe381Val
NM_199436.1:c.1045T>G NP_955468.1:p.Phe349Val
XM_005264516.3:c.1138T>G XP_005264573.1:p.Phe380Val
XM_011533067.1:c.1141T>G XP_011531369.1:p.Phe381Val
NM_001363823.1:c.1138T>G NP_001350752.1:p.Phe380Val
NM_001363875.1:c.1042T>G NP_001350804.1:p.Phe348Val
XM_005264516.5:c.1138T>G XP_005264573.1:p.Phe380Val
XM_011533067.2:c.1141T>G XP_011531369.1:p.Phe381Val
XM_017004778.2:c.1045T>G XP_016860267.1:p.Phe349Val
NM_001363823.2:c.1138T>G NP_001350752.1:p.Phe380Val
NM_001363875.2:c.1042T>G NP_001350804.1:p.Phe348Val
NM_001377959.1:c.1045T>G NP_001364888.1:p.Phe349Val
NM_014946.4:c.1141T>G MANE Select NP_055761.2:p.Phe381Val
NM_199436.2:c.1045T>G NP_955468.1:p.Phe349Val