Canonical Allele Identifier: CA1242497433

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32127020C= , CM000664.2:g.32127020C=	GRCh38
NC_000002.11:g.32352089C= , CM000664.1:g.32352089C=	GRCh37
NC_000002.10:g.32205593C=	NCBI36
NG_008730.1:g.68410C= , LRG_714:g.68410C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*831C=	ENSP00000515816.1:n.*831C=
ENST00000315285.9:c.1171C= MANE Select	ENSP00000320885.3:p.Leu391=
ENST00000621856.2:c.1168C=	ENSP00000482496.2:p.Leu390=
ENST00000642281.1:c.983-9543C=
ENST00000642455.1:c.1072C=	ENSP00000493827.1:p.Leu358=
ENST00000642751.1:c.945C=
ENST00000642999.1:c.913C=	ENSP00000496589.1:p.Leu305=
ENST00000643327.1:c.330C=
ENST00000643334.1:c.751C=
ENST00000644408.1:c.1047C=
ENST00000644954.1:c.817C=	ENSP00000494312.1:p.Leu273=
ENST00000645159.1:n.523C=
ENST00000645550.1:n.384C=
ENST00000645671.1:c.621C=
ENST00000645730.1:c.518C=
ENST00000646082.1:c.817C=
ENST00000646571.1:c.1075C=	ENSP00000495015.1:p.Leu359=
ENST00000647007.1:n.863C=
ENST00000647133.1:c.674-1388C=
ENST00000315285.7:c.1171C=	ENSP00000320885.3:p.Leu391=
ENST00000345662.5:c.1075C=	ENSP00000340817.1:p.Leu359=
ENST00000615843.4:c.1171C=	ENSP00000480893.1:p.Leu391=
ENST00000621856.1:c.913C=	ENSP00000482496.1:p.Leu305=
NM_014946.3:c.1171C= , LRG_714t1:c.1171C=	NP_055761.2:p.Leu391=
NM_199436.1:c.1075C=	NP_955468.1:p.Leu359=
XM_005264516.3:c.1168C=	XP_005264573.1:p.Leu390=
XM_011533067.1:c.1171C=	XP_011531369.1:p.Leu391=
NM_001363823.1:c.1168C=	NP_001350752.1:p.Leu390=
NM_001363875.1:c.1072C=	NP_001350804.1:p.Leu358=
XM_005264516.5:c.1168C=	XP_005264573.1:p.Leu390=
XM_011533067.2:c.1171C=	XP_011531369.1:p.Leu391=
XM_017004778.2:c.1075C=	XP_016860267.1:p.Leu359=
NM_001363823.2:c.1168C=	NP_001350752.1:p.Leu390=
NM_001363875.2:c.1072C=	NP_001350804.1:p.Leu358=
NM_001377959.1:c.1075C=	NP_001364888.1:p.Leu359=
NM_014946.4:c.1171C= MANE Select	NP_055761.2:p.Leu391=
NM_199436.2:c.1075C=	NP_955468.1:p.Leu359=