Canonical Allele Identifier: CA346502136
Gene: SPAST HGNC NCBI

Linked Data

gnomAD v4: 2-32136635-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32136635A>G , CM000664.2:g.32136635A>G GRCh38
NC_000002.11:g.32361704A>G , CM000664.1:g.32361704A>G GRCh37
NC_000002.10:g.32215208A>G NCBI36
NG_008730.1:g.78025A>G , LRG_714:g.78025A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.*978A>G ENSP00000515816.1:n.*978A>G
ENST00000315285.9:c.1318A>G MANE Select ENSP00000320885.3:p.Ile440Val
ENST00000621856.2:c.1315A>G ENSP00000482496.2:p.Ile439Val
ENST00000642281.1:c.1055A>G
ENST00000642455.1:c.1219A>G ENSP00000493827.1:p.Ile407Val
ENST00000642751.1:c.1092A>G
ENST00000642999.1:c.1060A>G ENSP00000496589.1:p.Ile354Val
ENST00000643327.1:c.477A>G
ENST00000643334.1:c.898A>G
ENST00000644408.1:c.1194A>G
ENST00000644954.1:c.964A>G ENSP00000494312.1:p.Ile322Val
ENST00000645159.1:n.2055A>G
ENST00000645671.1:c.768A>G
ENST00000645730.1:c.593-474A>G
ENST00000646082.1:c.964A>G
ENST00000646571.1:c.1222A>G ENSP00000495015.1:p.Ile408Val
ENST00000647007.1:n.1010A>G
ENST00000647133.1:c.818A>G
ENST00000315285.7:c.1318A>G ENSP00000320885.3:p.Ile440Val
ENST00000345662.5:c.1222A>G ENSP00000340817.1:p.Ile408Val
ENST00000615843.4:c.1318A>G ENSP00000480893.1:p.Ile440Val
ENST00000621856.1:c.1060A>G ENSP00000482496.1:p.Ile354Val
NM_014946.3:c.1318A>G , LRG_714t1:c.1318A>G NP_055761.2:p.Ile440Val
NM_199436.1:c.1222A>G NP_955468.1:p.Ile408Val
XM_005264516.3:c.1315A>G XP_005264573.1:p.Ile439Val
XM_011533067.1:c.1318A>G XP_011531369.1:p.Ile440Val
NM_001363823.1:c.1315A>G NP_001350752.1:p.Ile439Val
NM_001363875.1:c.1219A>G NP_001350804.1:p.Ile407Val
XM_005264516.5:c.1315A>G XP_005264573.1:p.Ile439Val
XM_011533067.2:c.1318A>G XP_011531369.1:p.Ile440Val
XM_017004778.2:c.1222A>G XP_016860267.1:p.Ile408Val
NM_001363823.2:c.1315A>G NP_001350752.1:p.Ile439Val
NM_001363875.2:c.1219A>G NP_001350804.1:p.Ile407Val
NM_001377959.1:c.1222A>G NP_001364888.1:p.Ile408Val
NM_014946.4:c.1318A>G MANE Select NP_055761.2:p.Ile440Val
NM_199436.2:c.1222A>G NP_955468.1:p.Ile408Val