Canonical Allele Identifier: CA346502059
Gene: SPAST HGNC NCBI

Linked Data

ClinVar Variation Id: 2811936
ClinVar RCV Id: RCV003634654

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32136598T>G , CM000664.2:g.32136598T>G GRCh38
NC_000002.11:g.32361667T>G , CM000664.1:g.32361667T>G GRCh37
NC_000002.10:g.32215171T>G NCBI36
NG_008730.1:g.77988T>G , LRG_714:g.77988T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.*941T>G ENSP00000515816.1:n.*941T>G
ENST00000315285.9:c.1281T>G MANE Select ENSP00000320885.3:p.Phe427Leu
ENST00000621856.2:c.1278T>G ENSP00000482496.2:p.Phe426Leu
ENST00000642281.1:c.1018T>G
ENST00000642455.1:c.1182T>G ENSP00000493827.1:p.Phe394Leu
ENST00000642751.1:c.1055T>G
ENST00000642999.1:c.1023T>G ENSP00000496589.1:p.Phe341Leu
ENST00000643327.1:c.440T>G
ENST00000643334.1:c.861T>G
ENST00000644408.1:c.1157T>G
ENST00000644954.1:c.927T>G ENSP00000494312.1:p.Phe309Leu
ENST00000645159.1:n.2018T>G
ENST00000645671.1:c.731T>G
ENST00000645730.1:c.593-511T>G
ENST00000646082.1:c.927T>G
ENST00000646571.1:c.1185T>G ENSP00000495015.1:p.Phe395Leu
ENST00000647007.1:n.973T>G
ENST00000647133.1:c.781T>G
ENST00000315285.7:c.1281T>G ENSP00000320885.3:p.Phe427Leu
ENST00000345662.5:c.1185T>G ENSP00000340817.1:p.Phe395Leu
ENST00000615843.4:c.1281T>G ENSP00000480893.1:p.Phe427Leu
ENST00000621856.1:c.1023T>G ENSP00000482496.1:p.Phe341Leu
NM_014946.3:c.1281T>G , LRG_714t1:c.1281T>G NP_055761.2:p.Phe427Leu
NM_199436.1:c.1185T>G NP_955468.1:p.Phe395Leu
XM_005264516.3:c.1278T>G XP_005264573.1:p.Phe426Leu
XM_011533067.1:c.1281T>G XP_011531369.1:p.Phe427Leu
NM_001363823.1:c.1278T>G NP_001350752.1:p.Phe426Leu
NM_001363875.1:c.1182T>G NP_001350804.1:p.Phe394Leu
XM_005264516.5:c.1278T>G XP_005264573.1:p.Phe426Leu
XM_011533067.2:c.1281T>G XP_011531369.1:p.Phe427Leu
XM_017004778.2:c.1185T>G XP_016860267.1:p.Phe395Leu
NM_001363823.2:c.1278T>G NP_001350752.1:p.Phe426Leu
NM_001363875.2:c.1182T>G NP_001350804.1:p.Phe394Leu
NM_001377959.1:c.1185T>G NP_001364888.1:p.Phe395Leu
NM_014946.4:c.1281T>G MANE Select NP_055761.2:p.Phe427Leu
NM_199436.2:c.1185T>G NP_955468.1:p.Phe395Leu