Canonical Allele Identifier: CA1242502059
Gene: SPAST HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32137140T= , CM000664.2:g.32137140T= GRCh38
NC_000002.11:g.32362209T= , CM000664.1:g.32362209T= GRCh37
NC_000002.10:g.32215713T= NCBI36
NG_008730.1:g.78530T= , LRG_714:g.78530T=

Transcript Alleles

HGVS Amino-acid change
ENST00000704289.1:c.*1105T= ENSP00000515816.1:n.*1105T=
ENST00000315285.9:c.1445T= MANE Select ENSP00000320885.3:p.Val482=
ENST00000621856.2:c.1442T= ENSP00000482496.2:p.Val481=
ENST00000642281.1:c.1182T=
ENST00000642455.1:c.1346T= ENSP00000493827.1:p.Val449=
ENST00000642751.1:c.1219T=
ENST00000642999.1:c.1187T= ENSP00000496589.1:p.Val396=
ENST00000643327.1:c.512T=
ENST00000643334.1:c.1025T=
ENST00000644408.1:c.1321T=
ENST00000644954.1:c.1091T= ENSP00000494312.1:p.Val364=
ENST00000645159.1:n.2182T=
ENST00000645671.1:c.895T=
ENST00000645730.1:c.624T=
ENST00000646082.1:c.1091T=
ENST00000646571.1:c.1349T= ENSP00000495015.1:p.Val450=
ENST00000647007.1:n.1137T=
ENST00000647133.1:c.945T=
ENST00000315285.7:c.1445T= ENSP00000320885.3:p.Val482=
ENST00000345662.5:c.1349T= ENSP00000340817.1:p.Val450=
ENST00000615843.4:c.1445T= ENSP00000480893.1:p.Val482=
ENST00000621856.1:c.1187T= ENSP00000482496.1:p.Val396=
NM_014946.3:c.1445T= , LRG_714t1:c.1445T= NP_055761.2:p.Val482=
NM_199436.1:c.1349T= NP_955468.1:p.Val450=
XM_005264516.3:c.1442T= XP_005264573.1:p.Val481=
XM_011533067.1:c.1445T= XP_011531369.1:p.Val482=
NM_001363823.1:c.1442T= NP_001350752.1:p.Val481=
NM_001363875.1:c.1346T= NP_001350804.1:p.Val449=
XM_005264516.5:c.1442T= XP_005264573.1:p.Val481=
XM_011533067.2:c.1445T= XP_011531369.1:p.Val482=
XM_017004778.2:c.1349T= XP_016860267.1:p.Val450=
NM_001363823.2:c.1442T= NP_001350752.1:p.Val481=
NM_001363875.2:c.1346T= NP_001350804.1:p.Val449=
NM_001377959.1:c.1349T= NP_001364888.1:p.Val450=
NM_014946.4:c.1445T= MANE Select NP_055761.2:p.Val482=
NM_199436.2:c.1349T= NP_955468.1:p.Val450=