Canonical Allele Identifier: CA346504214

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32144966T>A , CM000664.2:g.32144966T>A	GRCh38
NC_000002.11:g.32370035T>A , CM000664.1:g.32370035T>A	GRCh37
NC_000002.10:g.32223539T>A	NCBI36
NG_008730.1:g.86356T>A , LRG_714:g.86356T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014946.4:c.1646T>A MANE Select	NP_055761.2:p.Leu549Gln
ENST00000315285.9:c.1646T>A MANE Select	ENSP00000320885.3:p.Leu549Gln
NM_001363823.1:c.1643T>A	NP_001350752.1:p.Leu548Gln
NM_001363823.2:c.1643T>A	NP_001350752.1:p.Leu548Gln
NM_001363875.1:c.1547T>A	NP_001350804.1:p.Leu516Gln
NM_001363875.2:c.1547T>A	NP_001350804.1:p.Leu516Gln
NM_001377959.1:c.1520+1551T>A	NP_001364888.1:n.1520+1551T>A
NM_014946.3:c.1646T>A , LRG_714t1:c.1646T>A	NP_055761.2:p.Leu549Gln
NM_199436.1:c.1550T>A	NP_955468.1:p.Leu517Gln
NM_199436.2:c.1550T>A	NP_955468.1:p.Leu517Gln
ENST00000315285.7:c.1646T>A	ENSP00000320885.3:p.Leu549Gln
ENST00000345662.5:c.1550T>A	ENSP00000340817.1:p.Leu517Gln
ENST00000615843.4:c.1646T>A	ENSP00000480893.1:p.Leu549Gln
ENST00000621856.1:c.1388T>A	ENSP00000482496.1:p.Leu463Gln
ENST00000621856.2:c.1643T>A	ENSP00000482496.2:p.Leu548Gln
ENST00000642281.1:c.1383T>A
ENST00000642455.1:c.1547T>A	ENSP00000493827.1:p.Leu516Gln
ENST00000642751.1:c.1390+1551T>A
ENST00000642999.1:c.1388T>A	ENSP00000496589.1:p.Leu463Gln
ENST00000643334.1:c.1226T>A
ENST00000644408.1:c.1522T>A
ENST00000644954.1:c.1292T>A	ENSP00000494312.1:p.Leu431Gln
ENST00000645159.1:n.2383T>A
ENST00000645671.1:c.1066+1551T>A
ENST00000645730.1:c.825T>A
ENST00000646082.1:c.1292T>A
ENST00000646571.1:c.1550T>A	ENSP00000495015.1:p.Leu517Gln
ENST00000647007.1:n.1338T>A
ENST00000647133.1:c.1146T>A
ENST00000704289.1:c.*1306T>A	ENSP00000515816.1:n.*1306T>A
XM_005264516.3:c.1643T>A	XP_005264573.1:p.Leu548Gln
XM_005264516.5:c.1643T>A	XP_005264573.1:p.Leu548Gln
XM_011533067.1:c.1616+1551T>A	XP_011531369.1:n.1616+1551T>A
XM_011533067.2:c.1616+1551T>A	XP_011531369.1:n.1616+1551T>A
XM_017004778.2:c.1520+1551T>A	XP_016860267.1:n.1520+1551T>A