Canonical Allele Identifier: CA346501369
Gene: SPAST HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32128412A>G , CM000664.2:g.32128412A>G GRCh38
NC_000002.11:g.32353481A>G , CM000664.1:g.32353481A>G GRCh37
NC_000002.10:g.32206985A>G NCBI36
NG_008730.1:g.69802A>G , LRG_714:g.69802A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.*838A>G ENSP00000515816.1:n.*838A>G
ENST00000315285.9:c.1178A>G MANE Select ENSP00000320885.3:p.Lys393Arg
ENST00000621856.2:c.1175A>G ENSP00000482496.2:p.Lys392Arg
ENST00000642281.1:c.983-8151A>G
ENST00000642455.1:c.1079A>G ENSP00000493827.1:p.Lys360Arg
ENST00000642751.1:c.952A>G
ENST00000642999.1:c.920A>G ENSP00000496589.1:p.Lys307Arg
ENST00000643327.1:c.337A>G
ENST00000643334.1:c.758A>G
ENST00000644408.1:c.1054A>G
ENST00000644954.1:c.824A>G ENSP00000494312.1:p.Lys275Arg
ENST00000645159.1:n.1915A>G
ENST00000645550.1:n.391A>G
ENST00000645671.1:c.628A>G
ENST00000645730.1:c.525A>G
ENST00000646082.1:c.824A>G
ENST00000646571.1:c.1082A>G ENSP00000495015.1:p.Lys361Arg
ENST00000647007.1:n.870A>G
ENST00000647133.1:c.678A>G
ENST00000315285.7:c.1178A>G ENSP00000320885.3:p.Lys393Arg
ENST00000345662.5:c.1082A>G ENSP00000340817.1:p.Lys361Arg
ENST00000615843.4:c.1178A>G ENSP00000480893.1:p.Lys393Arg
ENST00000621856.1:c.920A>G ENSP00000482496.1:p.Lys307Arg
NM_014946.3:c.1178A>G , LRG_714t1:c.1178A>G NP_055761.2:p.Lys393Arg
NM_199436.1:c.1082A>G NP_955468.1:p.Lys361Arg
XM_005264516.3:c.1175A>G XP_005264573.1:p.Lys392Arg
XM_011533067.1:c.1178A>G XP_011531369.1:p.Lys393Arg
NM_001363823.1:c.1175A>G NP_001350752.1:p.Lys392Arg
NM_001363875.1:c.1079A>G NP_001350804.1:p.Lys360Arg
XM_005264516.5:c.1175A>G XP_005264573.1:p.Lys392Arg
XM_011533067.2:c.1178A>G XP_011531369.1:p.Lys393Arg
XM_017004778.2:c.1082A>G XP_016860267.1:p.Lys361Arg
NM_001363823.2:c.1175A>G NP_001350752.1:p.Lys392Arg
NM_001363875.2:c.1079A>G NP_001350804.1:p.Lys360Arg
NM_001377959.1:c.1082A>G NP_001364888.1:p.Lys361Arg
NM_014946.4:c.1178A>G MANE Select NP_055761.2:p.Lys393Arg
NM_199436.2:c.1082A>G NP_955468.1:p.Lys361Arg