Canonical Allele Identifier: CA10602853
Gene: SPAST HGNC NCBI

Linked Data

ClinVar Variation Id: 280383
ClinVar RCV Id: RCV000360918
dbSNP Id: rs886041597

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32136886A>G , CM000664.2:g.32136886A>G GRCh38
NC_000002.11:g.32361955A>G , CM000664.1:g.32361955A>G GRCh37
NC_000002.10:g.32215459A>G NCBI36
NG_008730.1:g.78276A>G , LRG_714:g.78276A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000704289.1:c.*991A>G ENSP00000515816.1:n.*991A>G
ENST00000315285.9:c.1331A>G MANE Select ENSP00000320885.3:p.Asp444Gly
ENST00000621856.2:c.1328A>G ENSP00000482496.2:p.Asp443Gly
ENST00000642281.1:c.1068A>G
ENST00000642455.1:c.1232A>G ENSP00000493827.1:p.Asp411Gly
ENST00000642751.1:c.1105A>G
ENST00000642999.1:c.1073A>G ENSP00000496589.1:p.Asp358Gly
ENST00000643327.1:c.481-223A>G
ENST00000643334.1:c.911A>G
ENST00000644408.1:c.1207A>G
ENST00000644954.1:c.977A>G ENSP00000494312.1:p.Asp326Gly
ENST00000645159.1:n.2068A>G
ENST00000645671.1:c.781A>G
ENST00000645730.1:c.593-223A>G
ENST00000646082.1:c.977A>G
ENST00000646571.1:c.1235A>G ENSP00000495015.1:p.Asp412Gly
ENST00000647007.1:n.1023A>G
ENST00000647133.1:c.831A>G
ENST00000315285.7:c.1331A>G ENSP00000320885.3:p.Asp444Gly
ENST00000345662.5:c.1235A>G ENSP00000340817.1:p.Asp412Gly
ENST00000615843.4:c.1331A>G ENSP00000480893.1:p.Asp444Gly
ENST00000621856.1:c.1073A>G ENSP00000482496.1:p.Asp358Gly
NM_014946.3:c.1331A>G , LRG_714t1:c.1331A>G NP_055761.2:p.Asp444Gly
NM_199436.1:c.1235A>G NP_955468.1:p.Asp412Gly
XM_005264516.3:c.1328A>G XP_005264573.1:p.Asp443Gly
XM_011533067.1:c.1331A>G XP_011531369.1:p.Asp444Gly
NM_001363823.1:c.1328A>G NP_001350752.1:p.Asp443Gly
NM_001363875.1:c.1232A>G NP_001350804.1:p.Asp411Gly
XM_005264516.5:c.1328A>G XP_005264573.1:p.Asp443Gly
XM_011533067.2:c.1331A>G XP_011531369.1:p.Asp444Gly
XM_017004778.2:c.1235A>G XP_016860267.1:p.Asp412Gly
NM_001363823.2:c.1328A>G NP_001350752.1:p.Asp443Gly
NM_001363875.2:c.1232A>G NP_001350804.1:p.Asp411Gly
NM_001377959.1:c.1235A>G NP_001364888.1:p.Asp412Gly
NM_014946.4:c.1331A>G MANE Select NP_055761.2:p.Asp444Gly
NM_199436.2:c.1235A>G NP_955468.1:p.Asp412Gly