Canonical Allele Identifier: CA1242502068

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32137143T= , CM000664.2:g.32137143T=	GRCh38
NC_000002.11:g.32362212T= , CM000664.1:g.32362212T=	GRCh37
NC_000002.10:g.32215716T=	NCBI36
NG_008730.1:g.78533T= , LRG_714:g.78533T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*1108T=	ENSP00000515816.1:n.*1108T=
ENST00000315285.9:c.1448T= MANE Select	ENSP00000320885.3:p.Met483=
ENST00000621856.2:c.1445T=	ENSP00000482496.2:p.Met482=
ENST00000642281.1:c.1185T=
ENST00000642455.1:c.1349T=	ENSP00000493827.1:p.Met450=
ENST00000642751.1:c.1222T=
ENST00000642999.1:c.1190T=	ENSP00000496589.1:p.Met397=
ENST00000643327.1:c.515T=
ENST00000643334.1:c.1028T=
ENST00000644408.1:c.1324T=
ENST00000644954.1:c.1094T=	ENSP00000494312.1:p.Met365=
ENST00000645159.1:n.2185T=
ENST00000645671.1:c.898T=
ENST00000645730.1:c.627T=
ENST00000646082.1:c.1094T=
ENST00000646571.1:c.1352T=	ENSP00000495015.1:p.Met451=
ENST00000647007.1:n.1140T=
ENST00000647133.1:c.948T=
ENST00000315285.7:c.1448T=	ENSP00000320885.3:p.Met483=
ENST00000345662.5:c.1352T=	ENSP00000340817.1:p.Met451=
ENST00000615843.4:c.1448T=	ENSP00000480893.1:p.Met483=
ENST00000621856.1:c.1190T=	ENSP00000482496.1:p.Met397=
NM_014946.3:c.1448T= , LRG_714t1:c.1448T=	NP_055761.2:p.Met483=
NM_199436.1:c.1352T=	NP_955468.1:p.Met451=
XM_005264516.3:c.1445T=	XP_005264573.1:p.Met482=
XM_011533067.1:c.1448T=	XP_011531369.1:p.Met483=
NM_001363823.1:c.1445T=	NP_001350752.1:p.Met482=
NM_001363875.1:c.1349T=	NP_001350804.1:p.Met450=
XM_005264516.5:c.1445T=	XP_005264573.1:p.Met482=
XM_011533067.2:c.1448T=	XP_011531369.1:p.Met483=
XM_017004778.2:c.1352T=	XP_016860267.1:p.Met451=
NM_001363823.2:c.1445T=	NP_001350752.1:p.Met482=
NM_001363875.2:c.1349T=	NP_001350804.1:p.Met450=
NM_001377959.1:c.1352T=	NP_001364888.1:p.Met451=
NM_014946.4:c.1448T= MANE Select	NP_055761.2:p.Met483=
NM_199436.2:c.1352T=	NP_955468.1:p.Met451=