Canonical Allele Identifier: CA346505502
Gene: SPAST HGNC NCBI

Linked Data

ClinVar Variation Id: 448450
dbSNP Id: rs1553321196

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32154375T>G , CM000664.2:g.32154375T>G GRCh38
NC_000002.11:g.32379444T>G , CM000664.1:g.32379444T>G GRCh37
NC_000002.10:g.32232948T>G NCBI36
NG_008730.1:g.95765T>G , LRG_714:g.95765T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.*1390T>G ENSP00000515816.1:n.*1390T>G
ENST00000315285.9:c.1730T>G MANE Select ENSP00000320885.3:p.Met577Arg
ENST00000621856.2:c.1727T>G ENSP00000482496.2:p.Met576Arg
ENST00000642281.1:c.1467T>G
ENST00000642455.1:c.1631T>G ENSP00000493827.1:p.Met544Arg
ENST00000642751.1:c.1433T>G
ENST00000642999.1:c.1472T>G ENSP00000496589.1:p.Met491Arg
ENST00000643334.1:c.1310T>G
ENST00000644408.1:c.1629T>G
ENST00000644954.1:c.1376T>G ENSP00000494312.1:p.Met459Arg
ENST00000645159.1:n.2467T>G
ENST00000645671.1:c.1109T>G
ENST00000645730.1:c.909T>G
ENST00000646082.1:c.1376T>G
ENST00000646571.1:c.1634T>G ENSP00000495015.1:p.Met545Arg
ENST00000647007.1:n.1422T>G
ENST00000647133.1:c.1230T>G
ENST00000315285.7:c.1730T>G ENSP00000320885.3:p.Met577Arg
ENST00000345662.5:c.1634T>G ENSP00000340817.1:p.Met545Arg
ENST00000615843.4:c.1730T>G ENSP00000480893.1:p.Met577Arg
ENST00000621856.1:c.1472T>G ENSP00000482496.1:p.Met491Arg
NM_014946.3:c.1730T>G , LRG_714t1:c.1730T>G NP_055761.2:p.Met577Arg
NM_199436.1:c.1634T>G NP_955468.1:p.Met545Arg
XM_005264516.3:c.1727T>G XP_005264573.1:p.Met576Arg
XM_011533067.1:c.*3T>G XP_011531369.1:n.*3T>G
NM_001363823.1:c.1727T>G NP_001350752.1:p.Met576Arg
NM_001363875.1:c.1631T>G NP_001350804.1:p.Met544Arg
XM_005264516.5:c.1727T>G XP_005264573.1:p.Met576Arg
XM_011533067.2:c.*3T>G XP_011531369.1:n.*3T>G
XM_017004778.2:c.*3T>G XP_016860267.1:n.*3T>G
NM_001363823.2:c.1727T>G NP_001350752.1:p.Met576Arg
NM_001363875.2:c.1631T>G NP_001350804.1:p.Met544Arg
NM_001377959.1:c.*3T>G NP_001364888.1:n.*3T>G
NM_014946.4:c.1730T>G MANE Select NP_055761.2:p.Met577Arg
NM_199436.2:c.1634T>G NP_955468.1:p.Met545Arg