Canonical Allele Identifier: CA1242497431
Gene: SPAST HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32127018T= , CM000664.2:g.32127018T= GRCh38
NC_000002.11:g.32352087T= , CM000664.1:g.32352087T= GRCh37
NC_000002.10:g.32205591T= NCBI36
NG_008730.1:g.68408T= , LRG_714:g.68408T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.*829T= ENSP00000515816.1:n.*829T=
ENST00000315285.9:c.1169T= MANE Select ENSP00000320885.3:p.Met390=
ENST00000621856.2:c.1166T= ENSP00000482496.2:p.Met389=
ENST00000642281.1:c.983-9545T=
ENST00000642455.1:c.1070T= ENSP00000493827.1:p.Met357=
ENST00000642751.1:c.943T=
ENST00000642999.1:c.911T= ENSP00000496589.1:p.Met304=
ENST00000643327.1:c.328T=
ENST00000643334.1:c.749T=
ENST00000644408.1:c.1045T=
ENST00000644954.1:c.815T= ENSP00000494312.1:p.Met272=
ENST00000645159.1:n.521T=
ENST00000645550.1:n.382T=
ENST00000645671.1:c.619T=
ENST00000645730.1:c.516T=
ENST00000646082.1:c.815T=
ENST00000646571.1:c.1073T= ENSP00000495015.1:p.Met358=
ENST00000647007.1:n.861T=
ENST00000647133.1:c.674-1390T=
ENST00000315285.7:c.1169T= ENSP00000320885.3:p.Met390=
ENST00000345662.5:c.1073T= ENSP00000340817.1:p.Met358=
ENST00000615843.4:c.1169T= ENSP00000480893.1:p.Met390=
ENST00000621856.1:c.911T= ENSP00000482496.1:p.Met304=
NM_014946.3:c.1169T= , LRG_714t1:c.1169T= NP_055761.2:p.Met390=
NM_199436.1:c.1073T= NP_955468.1:p.Met358=
XM_005264516.3:c.1166T= XP_005264573.1:p.Met389=
XM_011533067.1:c.1169T= XP_011531369.1:p.Met390=
NM_001363823.1:c.1166T= NP_001350752.1:p.Met389=
NM_001363875.1:c.1070T= NP_001350804.1:p.Met357=
XM_005264516.5:c.1166T= XP_005264573.1:p.Met389=
XM_011533067.2:c.1169T= XP_011531369.1:p.Met390=
XM_017004778.2:c.1073T= XP_016860267.1:p.Met358=
NM_001363823.2:c.1166T= NP_001350752.1:p.Met389=
NM_001363875.2:c.1070T= NP_001350804.1:p.Met357=
NM_001377959.1:c.1073T= NP_001364888.1:p.Met358=
NM_014946.4:c.1169T= MANE Select NP_055761.2:p.Met390=
NM_199436.2:c.1073T= NP_955468.1:p.Met358=