Canonical Allele Identifier: CA1242497412

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32126988T= , CM000664.2:g.32126988T=	GRCh38
NC_000002.11:g.32352057T= , CM000664.1:g.32352057T=	GRCh37
NC_000002.10:g.32205561T=	NCBI36
NG_008730.1:g.68378T= , LRG_714:g.68378T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*799T=	ENSP00000515816.1:n.*799T=
ENST00000315285.9:c.1139T= MANE Select	ENSP00000320885.3:p.Leu380=
ENST00000621856.2:c.1136T=	ENSP00000482496.2:p.Leu379=
ENST00000642281.1:c.983-9575T=
ENST00000642455.1:c.1040T=	ENSP00000493827.1:p.Leu347=
ENST00000642751.1:c.913T=
ENST00000642999.1:c.881T=	ENSP00000496589.1:p.Leu294=
ENST00000643327.1:c.298T=
ENST00000643334.1:c.719T=
ENST00000644408.1:c.1015T=
ENST00000644954.1:c.785T=	ENSP00000494312.1:p.Leu262=
ENST00000645159.1:n.491T=
ENST00000645550.1:n.352T=
ENST00000645671.1:c.589T=
ENST00000645730.1:c.486T=
ENST00000646082.1:c.785T=
ENST00000646571.1:c.1043T=	ENSP00000495015.1:p.Leu348=
ENST00000647007.1:n.831T=
ENST00000647133.1:c.674-1420T=
ENST00000315285.7:c.1139T=	ENSP00000320885.3:p.Leu380=
ENST00000345662.5:c.1043T=	ENSP00000340817.1:p.Leu348=
ENST00000615843.4:c.1139T=	ENSP00000480893.1:p.Leu380=
ENST00000621856.1:c.881T=	ENSP00000482496.1:p.Leu294=
NM_014946.3:c.1139T= , LRG_714t1:c.1139T=	NP_055761.2:p.Leu380=
NM_199436.1:c.1043T=	NP_955468.1:p.Leu348=
XM_005264516.3:c.1136T=	XP_005264573.1:p.Leu379=
XM_011533067.1:c.1139T=	XP_011531369.1:p.Leu380=
NM_001363823.1:c.1136T=	NP_001350752.1:p.Leu379=
NM_001363875.1:c.1040T=	NP_001350804.1:p.Leu347=
XM_005264516.5:c.1136T=	XP_005264573.1:p.Leu379=
XM_011533067.2:c.1139T=	XP_011531369.1:p.Leu380=
XM_017004778.2:c.1043T=	XP_016860267.1:p.Leu348=
NM_001363823.2:c.1136T=	NP_001350752.1:p.Leu379=
NM_001363875.2:c.1040T=	NP_001350804.1:p.Leu347=
NM_001377959.1:c.1043T=	NP_001364888.1:p.Leu348=
NM_014946.4:c.1139T= MANE Select	NP_055761.2:p.Leu380=
NM_199436.2:c.1043T=	NP_955468.1:p.Leu348=