Canonical Allele Identifier: CA1242506973
Gene: SPAST HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32147219A= , CM000664.2:g.32147219A= GRCh38
NC_000002.11:g.32372288A= , CM000664.1:g.32372288A= GRCh37
NC_000002.10:g.32225792A= NCBI36
NG_008730.1:g.88609A= , LRG_714:g.88609A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.*1349A= ENSP00000515816.1:n.*1349A=
ENST00000315285.9:c.1689A= MANE Select ENSP00000320885.3:p.Glu563=
ENST00000621856.2:c.1686A= ENSP00000482496.2:p.Glu562=
ENST00000642281.1:c.1426A=
ENST00000642455.1:c.1590A= ENSP00000493827.1:p.Glu530=
ENST00000642751.1:c.1392A=
ENST00000642999.1:c.1431A= ENSP00000496589.1:p.Glu477=
ENST00000643334.1:c.1269A=
ENST00000644408.1:c.1588A=
ENST00000644954.1:c.1335A= ENSP00000494312.1:p.Glu445=
ENST00000645159.1:n.2426A=
ENST00000645671.1:c.1068A=
ENST00000645730.1:c.868A=
ENST00000646082.1:c.1335A=
ENST00000646571.1:c.1593A= ENSP00000495015.1:p.Glu531=
ENST00000647007.1:n.1381A=
ENST00000647133.1:c.1189A=
ENST00000315285.7:c.1689A= ENSP00000320885.3:p.Glu563=
ENST00000345662.5:c.1593A= ENSP00000340817.1:p.Glu531=
ENST00000615843.4:c.1689A= ENSP00000480893.1:p.Glu563=
ENST00000621856.1:c.1431A= ENSP00000482496.1:p.Glu477=
NM_014946.3:c.1689A= , LRG_714t1:c.1689A= NP_055761.2:p.Glu563=
NM_199436.1:c.1593A= NP_955468.1:p.Glu531=
XM_005264516.3:c.1686A= XP_005264573.1:p.Glu562=
XM_011533067.1:c.1618A= XP_011531369.1:p.Thr540=
NM_001363823.1:c.1686A= NP_001350752.1:p.Glu562=
NM_001363875.1:c.1590A= NP_001350804.1:p.Glu530=
XM_005264516.5:c.1686A= XP_005264573.1:p.Glu562=
XM_011533067.2:c.1618A= XP_011531369.1:p.Thr540=
XM_017004778.2:c.1522A= XP_016860267.1:p.Thr508=
NM_001363823.2:c.1686A= NP_001350752.1:p.Glu562=
NM_001363875.2:c.1590A= NP_001350804.1:p.Glu530=
NM_001377959.1:c.1522A= NP_001364888.1:p.Thr508=
NM_014946.4:c.1689A= MANE Select NP_055761.2:p.Glu563=
NM_199436.2:c.1593A= NP_955468.1:p.Glu531=