Canonical Allele Identifier: CA1242501059
Gene: SPAST HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32136563G= , CM000664.2:g.32136563G= GRCh38
NC_000002.11:g.32361632G= , CM000664.1:g.32361632G= GRCh37
NC_000002.10:g.32215136G= NCBI36
NG_008730.1:g.77953G= , LRG_714:g.77953G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.*906G= ENSP00000515816.1:n.*906G=
ENST00000315285.9:c.1246G= MANE Select ENSP00000320885.3:p.Val416=
ENST00000621856.2:c.1243G= ENSP00000482496.2:p.Val415=
ENST00000642281.1:c.983G=
ENST00000642455.1:c.1147G= ENSP00000493827.1:p.Val383=
ENST00000642751.1:c.1020G=
ENST00000642999.1:c.988G= ENSP00000496589.1:p.Val330=
ENST00000643327.1:c.405G=
ENST00000643334.1:c.826G=
ENST00000644408.1:c.1122G=
ENST00000644954.1:c.892G= ENSP00000494312.1:p.Val298=
ENST00000645159.1:n.1983G=
ENST00000645671.1:c.696G=
ENST00000645730.1:c.593-546G=
ENST00000646082.1:c.892G=
ENST00000646571.1:c.1150G= ENSP00000495015.1:p.Val384=
ENST00000647007.1:n.938G=
ENST00000647133.1:c.746G=
ENST00000315285.7:c.1246G= ENSP00000320885.3:p.Val416=
ENST00000345662.5:c.1150G= ENSP00000340817.1:p.Val384=
ENST00000615843.4:c.1246G= ENSP00000480893.1:p.Val416=
ENST00000621856.1:c.988G= ENSP00000482496.1:p.Val330=
NM_014946.3:c.1246G= , LRG_714t1:c.1246G= NP_055761.2:p.Val416=
NM_199436.1:c.1150G= NP_955468.1:p.Val384=
XM_005264516.3:c.1243G= XP_005264573.1:p.Val415=
XM_011533067.1:c.1246G= XP_011531369.1:p.Val416=
NM_001363823.1:c.1243G= NP_001350752.1:p.Val415=
NM_001363875.1:c.1147G= NP_001350804.1:p.Val383=
XM_005264516.5:c.1243G= XP_005264573.1:p.Val415=
XM_011533067.2:c.1246G= XP_011531369.1:p.Val416=
XM_017004778.2:c.1150G= XP_016860267.1:p.Val384=
NM_001363823.2:c.1243G= NP_001350752.1:p.Val415=
NM_001363875.2:c.1147G= NP_001350804.1:p.Val383=
NM_001377959.1:c.1150G= NP_001364888.1:p.Val384=
NM_014946.4:c.1246G= MANE Select NP_055761.2:p.Val416=
NM_199436.2:c.1150G= NP_955468.1:p.Val384=