Canonical Allele Identifier: CA346501367
Gene: SPAST HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32128411A>T , CM000664.2:g.32128411A>T GRCh38
NC_000002.11:g.32353480A>T , CM000664.1:g.32353480A>T GRCh37
NC_000002.10:g.32206984A>T NCBI36
NG_008730.1:g.69801A>T , LRG_714:g.69801A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.*837A>T ENSP00000515816.1:n.*837A>T
ENST00000315285.9:c.1177A>T MANE Select ENSP00000320885.3:p.Lys393Ter
ENST00000621856.2:c.1174A>T ENSP00000482496.2:p.Lys392Ter
ENST00000642281.1:c.983-8152A>T
ENST00000642455.1:c.1078A>T ENSP00000493827.1:p.Lys360Ter
ENST00000642751.1:c.951A>T
ENST00000642999.1:c.919A>T ENSP00000496589.1:p.Lys307Ter
ENST00000643327.1:c.336A>T
ENST00000643334.1:c.757A>T
ENST00000644408.1:c.1053A>T
ENST00000644954.1:c.823A>T ENSP00000494312.1:p.Lys275Ter
ENST00000645159.1:n.1914A>T
ENST00000645550.1:n.390A>T
ENST00000645671.1:c.627A>T
ENST00000645730.1:c.524A>T
ENST00000646082.1:c.823A>T
ENST00000646571.1:c.1081A>T ENSP00000495015.1:p.Lys361Ter
ENST00000647007.1:n.869A>T
ENST00000647133.1:c.677A>T
ENST00000315285.7:c.1177A>T ENSP00000320885.3:p.Lys393Ter
ENST00000345662.5:c.1081A>T ENSP00000340817.1:p.Lys361Ter
ENST00000615843.4:c.1177A>T ENSP00000480893.1:p.Lys393Ter
ENST00000621856.1:c.919A>T ENSP00000482496.1:p.Lys307Ter
NM_014946.3:c.1177A>T , LRG_714t1:c.1177A>T NP_055761.2:p.Lys393Ter
NM_199436.1:c.1081A>T NP_955468.1:p.Lys361Ter
XM_005264516.3:c.1174A>T XP_005264573.1:p.Lys392Ter
XM_011533067.1:c.1177A>T XP_011531369.1:p.Lys393Ter
NM_001363823.1:c.1174A>T NP_001350752.1:p.Lys392Ter
NM_001363875.1:c.1078A>T NP_001350804.1:p.Lys360Ter
XM_005264516.5:c.1174A>T XP_005264573.1:p.Lys392Ter
XM_011533067.2:c.1177A>T XP_011531369.1:p.Lys393Ter
XM_017004778.2:c.1081A>T XP_016860267.1:p.Lys361Ter
NM_001363823.2:c.1174A>T NP_001350752.1:p.Lys392Ter
NM_001363875.2:c.1078A>T NP_001350804.1:p.Lys360Ter
NM_001377959.1:c.1081A>T NP_001364888.1:p.Lys361Ter
NM_014946.4:c.1177A>T MANE Select NP_055761.2:p.Lys393Ter
NM_199436.2:c.1081A>T NP_955468.1:p.Lys361Ter