Canonical Allele Identifier: CA1242497432
Gene: SPAST HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32127019G= , CM000664.2:g.32127019G= GRCh38
NC_000002.11:g.32352088G= , CM000664.1:g.32352088G= GRCh37
NC_000002.10:g.32205592G= NCBI36
NG_008730.1:g.68409G= , LRG_714:g.68409G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.*830G= ENSP00000515816.1:n.*830G=
ENST00000315285.9:c.1170G= MANE Select ENSP00000320885.3:p.Met390=
ENST00000621856.2:c.1167G= ENSP00000482496.2:p.Met389=
ENST00000642281.1:c.983-9544G=
ENST00000642455.1:c.1071G= ENSP00000493827.1:p.Met357=
ENST00000642751.1:c.944G=
ENST00000642999.1:c.912G= ENSP00000496589.1:p.Met304=
ENST00000643327.1:c.329G=
ENST00000643334.1:c.750G=
ENST00000644408.1:c.1046G=
ENST00000644954.1:c.816G= ENSP00000494312.1:p.Met272=
ENST00000645159.1:n.522G=
ENST00000645550.1:n.383G=
ENST00000645671.1:c.620G=
ENST00000645730.1:c.517G=
ENST00000646082.1:c.816G=
ENST00000646571.1:c.1074G= ENSP00000495015.1:p.Met358=
ENST00000647007.1:n.862G=
ENST00000647133.1:c.674-1389G=
ENST00000315285.7:c.1170G= ENSP00000320885.3:p.Met390=
ENST00000345662.5:c.1074G= ENSP00000340817.1:p.Met358=
ENST00000615843.4:c.1170G= ENSP00000480893.1:p.Met390=
ENST00000621856.1:c.912G= ENSP00000482496.1:p.Met304=
NM_014946.3:c.1170G= , LRG_714t1:c.1170G= NP_055761.2:p.Met390=
NM_199436.1:c.1074G= NP_955468.1:p.Met358=
XM_005264516.3:c.1167G= XP_005264573.1:p.Met389=
XM_011533067.1:c.1170G= XP_011531369.1:p.Met390=
NM_001363823.1:c.1167G= NP_001350752.1:p.Met389=
NM_001363875.1:c.1071G= NP_001350804.1:p.Met357=
XM_005264516.5:c.1167G= XP_005264573.1:p.Met389=
XM_011533067.2:c.1170G= XP_011531369.1:p.Met390=
XM_017004778.2:c.1074G= XP_016860267.1:p.Met358=
NM_001363823.2:c.1167G= NP_001350752.1:p.Met389=
NM_001363875.2:c.1071G= NP_001350804.1:p.Met357=
NM_001377959.1:c.1074G= NP_001364888.1:p.Met358=
NM_014946.4:c.1170G= MANE Select NP_055761.2:p.Met390=
NM_199436.2:c.1074G= NP_955468.1:p.Met358=