Canonical Allele Identifier: CA346502425
Gene: SPAST HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32137131G>T , CM000664.2:g.32137131G>T GRCh38
NC_000002.11:g.32362200G>T , CM000664.1:g.32362200G>T GRCh37
NC_000002.10:g.32215704G>T NCBI36
NG_008730.1:g.78521G>T , LRG_714:g.78521G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000704289.1:c.*1096G>T ENSP00000515816.1:n.*1096G>T
ENST00000315285.9:c.1436G>T MANE Select ENSP00000320885.3:p.Arg479Ile
ENST00000621856.2:c.1433G>T ENSP00000482496.2:p.Arg478Ile
ENST00000642281.1:c.1173G>T
ENST00000642455.1:c.1337G>T ENSP00000493827.1:p.Arg446Ile
ENST00000642751.1:c.1210G>T
ENST00000642999.1:c.1178G>T ENSP00000496589.1:p.Arg393Ile
ENST00000643327.1:c.503G>T
ENST00000643334.1:c.1016G>T
ENST00000644408.1:c.1312G>T
ENST00000644954.1:c.1082G>T ENSP00000494312.1:p.Arg361Ile
ENST00000645159.1:n.2173G>T
ENST00000645671.1:c.886G>T
ENST00000645730.1:c.615G>T
ENST00000646082.1:c.1082G>T
ENST00000646571.1:c.1340G>T ENSP00000495015.1:p.Arg447Ile
ENST00000647007.1:n.1128G>T
ENST00000647133.1:c.936G>T
ENST00000315285.7:c.1436G>T ENSP00000320885.3:p.Arg479Ile
ENST00000345662.5:c.1340G>T ENSP00000340817.1:p.Arg447Ile
ENST00000615843.4:c.1436G>T ENSP00000480893.1:p.Arg479Ile
ENST00000621856.1:c.1178G>T ENSP00000482496.1:p.Arg393Ile
NM_014946.3:c.1436G>T , LRG_714t1:c.1436G>T NP_055761.2:p.Arg479Ile
NM_199436.1:c.1340G>T NP_955468.1:p.Arg447Ile
XM_005264516.3:c.1433G>T XP_005264573.1:p.Arg478Ile
XM_011533067.1:c.1436G>T XP_011531369.1:p.Arg479Ile
NM_001363823.1:c.1433G>T NP_001350752.1:p.Arg478Ile
NM_001363875.1:c.1337G>T NP_001350804.1:p.Arg446Ile
XM_005264516.5:c.1433G>T XP_005264573.1:p.Arg478Ile
XM_011533067.2:c.1436G>T XP_011531369.1:p.Arg479Ile
XM_017004778.2:c.1340G>T XP_016860267.1:p.Arg447Ile
NM_001363823.2:c.1433G>T NP_001350752.1:p.Arg478Ile
NM_001363875.2:c.1337G>T NP_001350804.1:p.Arg446Ile
NM_001377959.1:c.1340G>T NP_001364888.1:p.Arg447Ile
NM_014946.4:c.1436G>T MANE Select NP_055761.2:p.Arg479Ile
NM_199436.2:c.1340G>T NP_955468.1:p.Arg447Ile