Canonical Allele Identifier: CA346505770

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32154486C>T , CM000664.2:g.32154486C>T	GRCh38
NC_000002.11:g.32379555C>T , CM000664.1:g.32379555C>T	GRCh37
NC_000002.10:g.32233059C>T	NCBI36
NG_008730.1:g.95876C>T , LRG_714:g.95876C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014946.4:c.1841C>T MANE Select	NP_055761.2:p.Thr614Ile
ENST00000315285.9:c.1841C>T MANE Select	ENSP00000320885.3:p.Thr614Ile
NM_001363823.1:c.1838C>T	NP_001350752.1:p.Thr613Ile
NM_001363823.2:c.1838C>T	NP_001350752.1:p.Thr613Ile
NM_001363875.1:c.1742C>T	NP_001350804.1:p.Thr581Ile
NM_001363875.2:c.1742C>T	NP_001350804.1:p.Thr581Ile
NM_001377959.1:c.*114C>T	NP_001364888.1:n.*114C>T
NM_014946.3:c.1841C>T , LRG_714t1:c.1841C>T	NP_055761.2:p.Thr614Ile
NM_199436.1:c.1745C>T	NP_955468.1:p.Thr582Ile
NM_199436.2:c.1745C>T	NP_955468.1:p.Thr582Ile
ENST00000315285.7:c.1841C>T	ENSP00000320885.3:p.Thr614Ile
ENST00000345662.5:c.1745C>T	ENSP00000340817.1:p.Thr582Ile
ENST00000615843.4:c.1841C>T	ENSP00000480893.1:p.Thr614Ile
ENST00000621856.1:c.1583C>T	ENSP00000482496.1:p.Thr528Ile
ENST00000621856.2:c.1838C>T	ENSP00000482496.2:p.Thr613Ile
ENST00000642281.1:c.1578C>T
ENST00000642455.1:c.1742C>T	ENSP00000493827.1:p.Thr581Ile
ENST00000642751.1:c.1544C>T
ENST00000642999.1:c.1583C>T	ENSP00000496589.1:p.Thr528Ile
ENST00000644408.1:c.1740C>T
ENST00000644954.1:c.1487C>T	ENSP00000494312.1:p.Thr496Ile
ENST00000645159.1:n.2578C>T
ENST00000645671.1:c.1220C>T
ENST00000645730.1:c.1020C>T
ENST00000646082.1:c.1487C>T
ENST00000646571.1:c.1745C>T	ENSP00000495015.1:p.Thr582Ile
ENST00000647007.1:n.1533C>T
ENST00000647133.1:c.1341C>T
ENST00000704289.1:c.*1501C>T	ENSP00000515816.1:n.*1501C>T
XM_005264516.3:c.1838C>T	XP_005264573.1:p.Thr613Ile
XM_005264516.5:c.1838C>T	XP_005264573.1:p.Thr613Ile
XM_011533067.2:c.*114C>T	XP_011531369.1:n.*114C>T
XM_017004778.2:c.*114C>T	XP_016860267.1:n.*114C>T