Canonical Allele Identifier: CA1242497426

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32127012A= , CM000664.2:g.32127012A=	GRCh38
NC_000002.11:g.32352081A= , CM000664.1:g.32352081A=	GRCh37
NC_000002.10:g.32205585A=	NCBI36
NG_008730.1:g.68402A= , LRG_714:g.68402A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*823A=	ENSP00000515816.1:n.*823A=
ENST00000315285.9:c.1163A= MANE Select	ENSP00000320885.3:p.Lys388=
ENST00000621856.2:c.1160A=	ENSP00000482496.2:p.Lys387=
ENST00000642281.1:c.983-9551A=
ENST00000642455.1:c.1064A=	ENSP00000493827.1:p.Lys355=
ENST00000642751.1:c.937A=
ENST00000642999.1:c.905A=	ENSP00000496589.1:p.Lys302=
ENST00000643327.1:c.322A=
ENST00000643334.1:c.743A=
ENST00000644408.1:c.1039A=
ENST00000644954.1:c.809A=	ENSP00000494312.1:p.Lys270=
ENST00000645159.1:n.515A=
ENST00000645550.1:n.376A=
ENST00000645671.1:c.613A=
ENST00000645730.1:c.510A=
ENST00000646082.1:c.809A=
ENST00000646571.1:c.1067A=	ENSP00000495015.1:p.Lys356=
ENST00000647007.1:n.855A=
ENST00000647133.1:c.674-1396A=
ENST00000315285.7:c.1163A=	ENSP00000320885.3:p.Lys388=
ENST00000345662.5:c.1067A=	ENSP00000340817.1:p.Lys356=
ENST00000615843.4:c.1163A=	ENSP00000480893.1:p.Lys388=
ENST00000621856.1:c.905A=	ENSP00000482496.1:p.Lys302=
NM_014946.3:c.1163A= , LRG_714t1:c.1163A=	NP_055761.2:p.Lys388=
NM_199436.1:c.1067A=	NP_955468.1:p.Lys356=
XM_005264516.3:c.1160A=	XP_005264573.1:p.Lys387=
XM_011533067.1:c.1163A=	XP_011531369.1:p.Lys388=
NM_001363823.1:c.1160A=	NP_001350752.1:p.Lys387=
NM_001363875.1:c.1064A=	NP_001350804.1:p.Lys355=
XM_005264516.5:c.1160A=	XP_005264573.1:p.Lys387=
XM_011533067.2:c.1163A=	XP_011531369.1:p.Lys388=
XM_017004778.2:c.1067A=	XP_016860267.1:p.Lys356=
NM_001363823.2:c.1160A=	NP_001350752.1:p.Lys387=
NM_001363875.2:c.1064A=	NP_001350804.1:p.Lys355=
NM_001377959.1:c.1067A=	NP_001364888.1:p.Lys356=
NM_014946.4:c.1163A= MANE Select	NP_055761.2:p.Lys388=
NM_199436.2:c.1067A=	NP_955468.1:p.Lys356=