Canonical Allele Identifier: CA1242497392
Gene: SPAST HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32126952T= , CM000664.2:g.32126952T= GRCh38
NC_000002.11:g.32352021T= , CM000664.1:g.32352021T= GRCh37
NC_000002.10:g.32205525T= NCBI36
NG_008730.1:g.68342T= , LRG_714:g.68342T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.*763T= ENSP00000515816.1:n.*763T=
ENST00000315285.9:c.1103T= MANE Select ENSP00000320885.3:p.Phe368=
ENST00000621856.2:c.1100T= ENSP00000482496.2:p.Phe367=
ENST00000642281.1:c.983-9611T=
ENST00000642455.1:c.1004T= ENSP00000493827.1:p.Phe335=
ENST00000642751.1:c.877T=
ENST00000642999.1:c.845T= ENSP00000496589.1:p.Phe282=
ENST00000643327.1:c.262T=
ENST00000643334.1:c.683T=
ENST00000644408.1:c.979T=
ENST00000644954.1:c.749T= ENSP00000494312.1:p.Phe250=
ENST00000645159.1:n.455T=
ENST00000645550.1:n.316T=
ENST00000645671.1:c.553T=
ENST00000645730.1:c.450T=
ENST00000646082.1:c.749T=
ENST00000646571.1:c.1007T= ENSP00000495015.1:p.Phe336=
ENST00000647007.1:n.795T=
ENST00000647133.1:c.674-1456T=
ENST00000315285.7:c.1103T= ENSP00000320885.3:p.Phe368=
ENST00000345662.5:c.1007T= ENSP00000340817.1:p.Phe336=
ENST00000615843.4:c.1103T= ENSP00000480893.1:p.Phe368=
ENST00000621856.1:c.845T= ENSP00000482496.1:p.Phe282=
NM_014946.3:c.1103T= , LRG_714t1:c.1103T= NP_055761.2:p.Phe368=
NM_199436.1:c.1007T= NP_955468.1:p.Phe336=
XM_005264516.3:c.1100T= XP_005264573.1:p.Phe367=
XM_011533067.1:c.1103T= XP_011531369.1:p.Phe368=
NM_001363823.1:c.1100T= NP_001350752.1:p.Phe367=
NM_001363875.1:c.1004T= NP_001350804.1:p.Phe335=
XM_005264516.5:c.1100T= XP_005264573.1:p.Phe367=
XM_011533067.2:c.1103T= XP_011531369.1:p.Phe368=
XM_017004778.2:c.1007T= XP_016860267.1:p.Phe336=
NM_001363823.2:c.1100T= NP_001350752.1:p.Phe367=
NM_001363875.2:c.1004T= NP_001350804.1:p.Phe335=
NM_001377959.1:c.1007T= NP_001364888.1:p.Phe336=
NM_014946.4:c.1103T= MANE Select NP_055761.2:p.Phe368=
NM_199436.2:c.1007T= NP_955468.1:p.Phe336=