Canonical Allele Identifier: CA346504222
Community Standard Title: NM_014946.4(SPAST):c.1649C>T (p.Thr550Ile)
Gene: SPAST HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32144969C>T , CM000664.2:g.32144969C>T GRCh38
NC_000002.11:g.32370038C>T , CM000664.1:g.32370038C>T GRCh37
NC_000002.10:g.32223542C>T NCBI36
NG_008730.1:g.86359C>T , LRG_714:g.86359C>T

Transcript Alleles

HGVS Amino-acid Change
NM_014946.4:c.1649C>T MANE Select NP_055761.2:p.Thr550Ile
ENST00000315285.9:c.1649C>T MANE Select ENSP00000320885.3:p.Thr550Ile
NM_001363823.1:c.1646C>T NP_001350752.1:p.Thr549Ile
NM_001363823.2:c.1646C>T NP_001350752.1:p.Thr549Ile
NM_001363875.1:c.1550C>T NP_001350804.1:p.Thr517Ile
NM_001363875.2:c.1550C>T NP_001350804.1:p.Thr517Ile
NM_001377959.1:c.1520+1554C>T NP_001364888.1:n.1520+1554C>T
NM_014946.3:c.1649C>T , LRG_714t1:c.1649C>T NP_055761.2:p.Thr550Ile
NM_199436.1:c.1553C>T NP_955468.1:p.Thr518Ile
NM_199436.2:c.1553C>T NP_955468.1:p.Thr518Ile
ENST00000315285.7:c.1649C>T ENSP00000320885.3:p.Thr550Ile
ENST00000345662.5:c.1553C>T ENSP00000340817.1:p.Thr518Ile
ENST00000615843.4:c.1649C>T ENSP00000480893.1:p.Thr550Ile
ENST00000621856.1:c.1391C>T ENSP00000482496.1:p.Thr464Ile
ENST00000621856.2:c.1646C>T ENSP00000482496.2:p.Thr549Ile
ENST00000642281.1:c.1386C>T
ENST00000642455.1:c.1550C>T ENSP00000493827.1:p.Thr517Ile
ENST00000642751.1:c.1390+1554C>T
ENST00000642999.1:c.1391C>T ENSP00000496589.1:p.Thr464Ile
ENST00000643334.1:c.1229C>T
ENST00000644408.1:c.1525C>T
ENST00000644954.1:c.1295C>T ENSP00000494312.1:p.Thr432Ile
ENST00000645159.1:n.2386C>T
ENST00000645671.1:c.1066+1554C>T
ENST00000645730.1:c.828C>T
ENST00000646082.1:c.1295C>T
ENST00000646571.1:c.1553C>T ENSP00000495015.1:p.Thr518Ile
ENST00000647007.1:n.1341C>T
ENST00000647133.1:c.1149C>T
ENST00000704289.1:c.*1309C>T ENSP00000515816.1:n.*1309C>T
XM_005264516.3:c.1646C>T XP_005264573.1:p.Thr549Ile
XM_005264516.5:c.1646C>T XP_005264573.1:p.Thr549Ile
XM_011533067.1:c.1616+1554C>T XP_011531369.1:n.1616+1554C>T
XM_011533067.2:c.1616+1554C>T XP_011531369.1:n.1616+1554C>T
XM_017004778.2:c.1520+1554C>T XP_016860267.1:n.1520+1554C>T