Canonical Allele Identifier: CA346501865
Gene: SPAST HGNC NCBI

Linked Data

ClinVar Variation Id: 1686225
ClinVar RCV Id: RCV002246738
dbSNP Id: rs2148753634

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32136576A>G , CM000664.2:g.32136576A>G GRCh38
NC_000002.11:g.32361645A>G , CM000664.1:g.32361645A>G GRCh37
NC_000002.10:g.32215149A>G NCBI36
NG_008730.1:g.77966A>G , LRG_714:g.77966A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.*919A>G ENSP00000515816.1:n.*919A>G
ENST00000315285.9:c.1259A>G MANE Select ENSP00000320885.3:p.Glu420Gly
ENST00000621856.2:c.1256A>G ENSP00000482496.2:p.Glu419Gly
ENST00000642281.1:c.996A>G
ENST00000642455.1:c.1160A>G ENSP00000493827.1:p.Glu387Gly
ENST00000642751.1:c.1033A>G
ENST00000642999.1:c.1001A>G ENSP00000496589.1:p.Glu334Gly
ENST00000643327.1:c.418A>G
ENST00000643334.1:c.839A>G
ENST00000644408.1:c.1135A>G
ENST00000644954.1:c.905A>G ENSP00000494312.1:p.Glu302Gly
ENST00000645159.1:n.1996A>G
ENST00000645671.1:c.709A>G
ENST00000645730.1:c.593-533A>G
ENST00000646082.1:c.905A>G
ENST00000646571.1:c.1163A>G ENSP00000495015.1:p.Glu388Gly
ENST00000647007.1:n.951A>G
ENST00000647133.1:c.759A>G
ENST00000315285.7:c.1259A>G ENSP00000320885.3:p.Glu420Gly
ENST00000345662.5:c.1163A>G ENSP00000340817.1:p.Glu388Gly
ENST00000615843.4:c.1259A>G ENSP00000480893.1:p.Glu420Gly
ENST00000621856.1:c.1001A>G ENSP00000482496.1:p.Glu334Gly
NM_014946.3:c.1259A>G , LRG_714t1:c.1259A>G NP_055761.2:p.Glu420Gly
NM_199436.1:c.1163A>G NP_955468.1:p.Glu388Gly
XM_005264516.3:c.1256A>G XP_005264573.1:p.Glu419Gly
XM_011533067.1:c.1259A>G XP_011531369.1:p.Glu420Gly
NM_001363823.1:c.1256A>G NP_001350752.1:p.Glu419Gly
NM_001363875.1:c.1160A>G NP_001350804.1:p.Glu387Gly
XM_005264516.5:c.1256A>G XP_005264573.1:p.Glu419Gly
XM_011533067.2:c.1259A>G XP_011531369.1:p.Glu420Gly
XM_017004778.2:c.1163A>G XP_016860267.1:p.Glu388Gly
NM_001363823.2:c.1256A>G NP_001350752.1:p.Glu419Gly
NM_001363875.2:c.1160A>G NP_001350804.1:p.Glu387Gly
NM_001377959.1:c.1163A>G NP_001364888.1:p.Glu388Gly
NM_014946.4:c.1259A>G MANE Select NP_055761.2:p.Glu420Gly
NM_199436.2:c.1163A>G NP_955468.1:p.Glu388Gly