Canonical Allele Identifier: CA278930
Gene: SPAST HGNC NCBI

Linked Data

ClinVar Variation Id: 217004
dbSNP Id: rs863224923
gnomAD v3: 2-32145005-G-A
gnomAD v4: 2-32145005-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32145005G>A , CM000664.2:g.32145005G>A GRCh38
NC_000002.11:g.32370074G>A , CM000664.1:g.32370074G>A GRCh37
NC_000002.10:g.32223578G>A NCBI36
NG_008730.1:g.86395G>A , LRG_714:g.86395G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000704289.1:c.*1345G>A ENSP00000515816.1:n.*1345G>A
ENST00000315285.9:c.1685G>A MANE Select ENSP00000320885.3:p.Arg562Gln
ENST00000621856.2:c.1682G>A ENSP00000482496.2:p.Arg561Gln
ENST00000642281.1:c.1422G>A
ENST00000642455.1:c.1586G>A ENSP00000493827.1:p.Arg529Gln
ENST00000642751.1:c.1390+1590G>A
ENST00000642999.1:c.1427G>A ENSP00000496589.1:p.Arg476Gln
ENST00000643334.1:c.1265G>A
ENST00000644408.1:c.1561G>A
ENST00000644954.1:c.1331G>A ENSP00000494312.1:p.Arg444Gln
ENST00000645159.1:n.2422G>A
ENST00000645671.1:c.1066+1590G>A
ENST00000645730.1:c.864G>A
ENST00000646082.1:c.1331G>A
ENST00000646571.1:c.1589G>A ENSP00000495015.1:p.Arg530Gln
ENST00000647007.1:n.1377G>A
ENST00000647133.1:c.1185G>A
ENST00000315285.7:c.1685G>A ENSP00000320885.3:p.Arg562Gln
ENST00000345662.5:c.1589G>A ENSP00000340817.1:p.Arg530Gln
ENST00000615843.4:c.1685G>A ENSP00000480893.1:p.Arg562Gln
ENST00000621856.1:c.1427G>A ENSP00000482496.1:p.Arg476Gln
NM_014946.3:c.1685G>A , LRG_714t1:c.1685G>A NP_055761.2:p.Arg562Gln
NM_199436.1:c.1589G>A NP_955468.1:p.Arg530Gln
XM_005264516.3:c.1682G>A XP_005264573.1:p.Arg561Gln
XM_011533067.1:c.1616+1590G>A XP_011531369.1:n.1616+1590G>A
NM_001363823.1:c.1682G>A NP_001350752.1:p.Arg561Gln
NM_001363875.1:c.1586G>A NP_001350804.1:p.Arg529Gln
XM_005264516.5:c.1682G>A XP_005264573.1:p.Arg561Gln
XM_011533067.2:c.1616+1590G>A XP_011531369.1:n.1616+1590G>A
XM_017004778.2:c.1520+1590G>A XP_016860267.1:n.1520+1590G>A
NM_001363823.2:c.1682G>A NP_001350752.1:p.Arg561Gln
NM_001363875.2:c.1586G>A NP_001350804.1:p.Arg529Gln
NM_001377959.1:c.1520+1590G>A NP_001364888.1:n.1520+1590G>A
NM_014946.4:c.1685G>A MANE Select NP_055761.2:p.Arg562Gln
NM_199436.2:c.1589G>A NP_955468.1:p.Arg530Gln