Canonical Allele Identifier: CA1242497413

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32126989C= , CM000664.2:g.32126989C=	GRCh38
NC_000002.11:g.32352058C= , CM000664.1:g.32352058C=	GRCh37
NC_000002.10:g.32205562C=	NCBI36
NG_008730.1:g.68379C= , LRG_714:g.68379C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*800C=	ENSP00000515816.1:n.*800C=
ENST00000315285.9:c.1140C= MANE Select	ENSP00000320885.3:p.Leu380=
ENST00000621856.2:c.1137C=	ENSP00000482496.2:p.Leu379=
ENST00000642281.1:c.983-9574C=
ENST00000642455.1:c.1041C=	ENSP00000493827.1:p.Leu347=
ENST00000642751.1:c.914C=
ENST00000642999.1:c.882C=	ENSP00000496589.1:p.Leu294=
ENST00000643327.1:c.299C=
ENST00000643334.1:c.720C=
ENST00000644408.1:c.1016C=
ENST00000644954.1:c.786C=	ENSP00000494312.1:p.Leu262=
ENST00000645159.1:n.492C=
ENST00000645550.1:n.353C=
ENST00000645671.1:c.590C=
ENST00000645730.1:c.487C=
ENST00000646082.1:c.786C=
ENST00000646571.1:c.1044C=	ENSP00000495015.1:p.Leu348=
ENST00000647007.1:n.832C=
ENST00000647133.1:c.674-1419C=
ENST00000315285.7:c.1140C=	ENSP00000320885.3:p.Leu380=
ENST00000345662.5:c.1044C=	ENSP00000340817.1:p.Leu348=
ENST00000615843.4:c.1140C=	ENSP00000480893.1:p.Leu380=
ENST00000621856.1:c.882C=	ENSP00000482496.1:p.Leu294=
NM_014946.3:c.1140C= , LRG_714t1:c.1140C=	NP_055761.2:p.Leu380=
NM_199436.1:c.1044C=	NP_955468.1:p.Leu348=
XM_005264516.3:c.1137C=	XP_005264573.1:p.Leu379=
XM_011533067.1:c.1140C=	XP_011531369.1:p.Leu380=
NM_001363823.1:c.1137C=	NP_001350752.1:p.Leu379=
NM_001363875.1:c.1041C=	NP_001350804.1:p.Leu347=
XM_005264516.5:c.1137C=	XP_005264573.1:p.Leu379=
XM_011533067.2:c.1140C=	XP_011531369.1:p.Leu380=
XM_017004778.2:c.1044C=	XP_016860267.1:p.Leu348=
NM_001363823.2:c.1137C=	NP_001350752.1:p.Leu379=
NM_001363875.2:c.1041C=	NP_001350804.1:p.Leu347=
NM_001377959.1:c.1044C=	NP_001364888.1:p.Leu348=
NM_014946.4:c.1140C= MANE Select	NP_055761.2:p.Leu380=
NM_199436.2:c.1044C=	NP_955468.1:p.Leu348=