Canonical Allele Identifier: CA1242497415
Gene: SPAST HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32126991T= , CM000664.2:g.32126991T= GRCh38
NC_000002.11:g.32352060T= , CM000664.1:g.32352060T= GRCh37
NC_000002.10:g.32205564T= NCBI36
NG_008730.1:g.68381T= , LRG_714:g.68381T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.*802T= ENSP00000515816.1:n.*802T=
ENST00000315285.9:c.1142T= MANE Select ENSP00000320885.3:p.Phe381=
ENST00000621856.2:c.1139T= ENSP00000482496.2:p.Phe380=
ENST00000642281.1:c.983-9572T=
ENST00000642455.1:c.1043T= ENSP00000493827.1:p.Phe348=
ENST00000642751.1:c.916T=
ENST00000642999.1:c.884T= ENSP00000496589.1:p.Phe295=
ENST00000643327.1:c.301T=
ENST00000643334.1:c.722T=
ENST00000644408.1:c.1018T=
ENST00000644954.1:c.788T= ENSP00000494312.1:p.Phe263=
ENST00000645159.1:n.494T=
ENST00000645550.1:n.355T=
ENST00000645671.1:c.592T=
ENST00000645730.1:c.489T=
ENST00000646082.1:c.788T=
ENST00000646571.1:c.1046T= ENSP00000495015.1:p.Phe349=
ENST00000647007.1:n.834T=
ENST00000647133.1:c.674-1417T=
ENST00000315285.7:c.1142T= ENSP00000320885.3:p.Phe381=
ENST00000345662.5:c.1046T= ENSP00000340817.1:p.Phe349=
ENST00000615843.4:c.1142T= ENSP00000480893.1:p.Phe381=
ENST00000621856.1:c.884T= ENSP00000482496.1:p.Phe295=
NM_014946.3:c.1142T= , LRG_714t1:c.1142T= NP_055761.2:p.Phe381=
NM_199436.1:c.1046T= NP_955468.1:p.Phe349=
XM_005264516.3:c.1139T= XP_005264573.1:p.Phe380=
XM_011533067.1:c.1142T= XP_011531369.1:p.Phe381=
NM_001363823.1:c.1139T= NP_001350752.1:p.Phe380=
NM_001363875.1:c.1043T= NP_001350804.1:p.Phe348=
XM_005264516.5:c.1139T= XP_005264573.1:p.Phe380=
XM_011533067.2:c.1142T= XP_011531369.1:p.Phe381=
XM_017004778.2:c.1046T= XP_016860267.1:p.Phe349=
NM_001363823.2:c.1139T= NP_001350752.1:p.Phe380=
NM_001363875.2:c.1043T= NP_001350804.1:p.Phe348=
NM_001377959.1:c.1046T= NP_001364888.1:p.Phe349=
NM_014946.4:c.1142T= MANE Select NP_055761.2:p.Phe381=
NM_199436.2:c.1046T= NP_955468.1:p.Phe349=