Canonical Allele Identifier: CA1242497419
Gene: SPAST HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32127001T= , CM000664.2:g.32127001T= GRCh38
NC_000002.11:g.32352070T= , CM000664.1:g.32352070T= GRCh37
NC_000002.10:g.32205574T= NCBI36
NG_008730.1:g.68391T= , LRG_714:g.68391T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.*812T= ENSP00000515816.1:n.*812T=
ENST00000315285.9:c.1152T= MANE Select ENSP00000320885.3:p.Pro384=
ENST00000621856.2:c.1149T= ENSP00000482496.2:p.Pro383=
ENST00000642281.1:c.983-9562T=
ENST00000642455.1:c.1053T= ENSP00000493827.1:p.Pro351=
ENST00000642751.1:c.926T=
ENST00000642999.1:c.894T= ENSP00000496589.1:p.Pro298=
ENST00000643327.1:c.311T=
ENST00000643334.1:c.732T=
ENST00000644408.1:c.1028T=
ENST00000644954.1:c.798T= ENSP00000494312.1:p.Pro266=
ENST00000645159.1:n.504T=
ENST00000645550.1:n.365T=
ENST00000645671.1:c.602T=
ENST00000645730.1:c.499T=
ENST00000646082.1:c.798T=
ENST00000646571.1:c.1056T= ENSP00000495015.1:p.Pro352=
ENST00000647007.1:n.844T=
ENST00000647133.1:c.674-1407T=
ENST00000315285.7:c.1152T= ENSP00000320885.3:p.Pro384=
ENST00000345662.5:c.1056T= ENSP00000340817.1:p.Pro352=
ENST00000615843.4:c.1152T= ENSP00000480893.1:p.Pro384=
ENST00000621856.1:c.894T= ENSP00000482496.1:p.Pro298=
NM_014946.3:c.1152T= , LRG_714t1:c.1152T= NP_055761.2:p.Pro384=
NM_199436.1:c.1056T= NP_955468.1:p.Pro352=
XM_005264516.3:c.1149T= XP_005264573.1:p.Pro383=
XM_011533067.1:c.1152T= XP_011531369.1:p.Pro384=
NM_001363823.1:c.1149T= NP_001350752.1:p.Pro383=
NM_001363875.1:c.1053T= NP_001350804.1:p.Pro351=
XM_005264516.5:c.1149T= XP_005264573.1:p.Pro383=
XM_011533067.2:c.1152T= XP_011531369.1:p.Pro384=
XM_017004778.2:c.1056T= XP_016860267.1:p.Pro352=
NM_001363823.2:c.1149T= NP_001350752.1:p.Pro383=
NM_001363875.2:c.1053T= NP_001350804.1:p.Pro351=
NM_001377959.1:c.1056T= NP_001364888.1:p.Pro352=
NM_014946.4:c.1152T= MANE Select NP_055761.2:p.Pro384=
NM_199436.2:c.1056T= NP_955468.1:p.Pro352=