Canonical Allele Identifier: CA346505775

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32154489C>T , CM000664.2:g.32154489C>T	GRCh38
NC_000002.11:g.32379558C>T , CM000664.1:g.32379558C>T	GRCh37
NC_000002.10:g.32233062C>T	NCBI36
NG_008730.1:g.95879C>T , LRG_714:g.95879C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014946.4:c.1844C>T MANE Select	NP_055761.2:p.Thr615Ile
ENST00000315285.9:c.1844C>T MANE Select	ENSP00000320885.3:p.Thr615Ile
NM_001363823.1:c.1841C>T	NP_001350752.1:p.Thr614Ile
NM_001363823.2:c.1841C>T	NP_001350752.1:p.Thr614Ile
NM_001363875.1:c.1745C>T	NP_001350804.1:p.Thr582Ile
NM_001363875.2:c.1745C>T	NP_001350804.1:p.Thr582Ile
NM_001377959.1:c.*117C>T	NP_001364888.1:n.*117C>T
NM_014946.3:c.1844C>T , LRG_714t1:c.1844C>T	NP_055761.2:p.Thr615Ile
NM_199436.1:c.1748C>T	NP_955468.1:p.Thr583Ile
NM_199436.2:c.1748C>T	NP_955468.1:p.Thr583Ile
ENST00000315285.7:c.1844C>T	ENSP00000320885.3:p.Thr615Ile
ENST00000345662.5:c.1748C>T	ENSP00000340817.1:p.Thr583Ile
ENST00000615843.4:c.1844C>T	ENSP00000480893.1:p.Thr615Ile
ENST00000621856.1:c.1586C>T	ENSP00000482496.1:p.Thr529Ile
ENST00000621856.2:c.1841C>T	ENSP00000482496.2:p.Thr614Ile
ENST00000642281.1:c.1581C>T
ENST00000642455.1:c.1745C>T	ENSP00000493827.1:p.Thr582Ile
ENST00000642751.1:c.1547C>T
ENST00000642999.1:c.1586C>T	ENSP00000496589.1:p.Thr529Ile
ENST00000644408.1:c.1743C>T
ENST00000644954.1:c.1490C>T	ENSP00000494312.1:p.Thr497Ile
ENST00000645159.1:n.2581C>T
ENST00000645671.1:c.1223C>T
ENST00000645730.1:c.1023C>T
ENST00000646082.1:c.1490C>T
ENST00000646571.1:c.1748C>T	ENSP00000495015.1:p.Thr583Ile
ENST00000647007.1:n.1536C>T
ENST00000647133.1:c.1344C>T
ENST00000704289.1:c.*1504C>T	ENSP00000515816.1:n.*1504C>T
XM_005264516.3:c.1841C>T	XP_005264573.1:p.Thr614Ile
XM_005264516.5:c.1841C>T	XP_005264573.1:p.Thr614Ile
XM_011533067.2:c.*117C>T	XP_011531369.1:n.*117C>T
XM_017004778.2:c.*117C>T	XP_016860267.1:n.*117C>T