Canonical Allele Identifier: CA916504724

Gene: SPAST

Linked Data

• dbSNP Id: rs1573155761

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136608_32136609insCC , CM000664.2:g.32136608_32136609insCC	GRCh38
NC_000002.11:g.32361677_32361678insCC , CM000664.1:g.32361677_32361678insCC	GRCh37
NC_000002.10:g.32215181_32215182insCC	NCBI36
NG_008730.1:g.77998_77999insCC , LRG_714:g.77998_77999insCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*951_*952insCC	ENSP00000515816.1:n.*951_*952insCC
ENST00000315285.9:c.1291_1292insCC MANE Select	ENSP00000320885.3:p.Arg431ProfsTer8
ENST00000621856.2:c.1288_1289insCC	ENSP00000482496.2:p.Arg430ProfsTer8
ENST00000642281.1:c.1028_1029insCC
ENST00000642455.1:c.1192_1193insCC	ENSP00000493827.1:p.Arg398ProfsTer8
ENST00000642751.1:c.1065_1066insCC
ENST00000642999.1:c.1033_1034insCC	ENSP00000496589.1:p.Arg345ProfsTer8
ENST00000643327.1:c.450_451insCC
ENST00000643334.1:c.871_872insCC
ENST00000644408.1:c.1167_1168insCC
ENST00000644954.1:c.937_938insCC	ENSP00000494312.1:p.Arg313ProfsTer8
ENST00000645159.1:n.2028_2029insCC
ENST00000645671.1:c.741_742insCC
ENST00000645730.1:c.593-501_593-500insCC
ENST00000646082.1:c.937_938insCC
ENST00000646571.1:c.1195_1196insCC	ENSP00000495015.1:p.Arg399ProfsTer8
ENST00000647007.1:n.983_984insCC
ENST00000647133.1:c.791_792insCC
ENST00000315285.7:c.1291_1292insCC	ENSP00000320885.3:p.Arg431ProfsTer8
ENST00000345662.5:c.1195_1196insCC	ENSP00000340817.1:p.Arg399ProfsTer8
ENST00000615843.4:c.1291_1292insCC	ENSP00000480893.1:p.Arg431ProfsTer8
ENST00000621856.1:c.1033_1034insCC	ENSP00000482496.1:p.Arg345ProfsTer8
NM_014946.3:c.1291_1292insCC , LRG_714t1:c.1291_1292insCC	NP_055761.2:p.Arg431ProfsTer8
NM_199436.1:c.1195_1196insCC	NP_955468.1:p.Arg399ProfsTer8
XM_005264516.3:c.1288_1289insCC	XP_005264573.1:p.Arg430ProfsTer8
XM_011533067.1:c.1291_1292insCC	XP_011531369.1:p.Arg431ProfsTer8
NM_001363823.1:c.1288_1289insCC	NP_001350752.1:p.Arg430ProfsTer8
NM_001363875.1:c.1192_1193insCC	NP_001350804.1:p.Arg398ProfsTer8
XM_005264516.5:c.1288_1289insCC	XP_005264573.1:p.Arg430ProfsTer8
XM_011533067.2:c.1291_1292insCC	XP_011531369.1:p.Arg431ProfsTer8
XM_017004778.2:c.1195_1196insCC	XP_016860267.1:p.Arg399ProfsTer8
NM_001363823.2:c.1288_1289insCC	NP_001350752.1:p.Arg430ProfsTer8
NM_001363875.2:c.1192_1193insCC	NP_001350804.1:p.Arg398ProfsTer8
NM_001377959.1:c.1195_1196insCC	NP_001364888.1:p.Arg399ProfsTer8
NM_014946.4:c.1291_1292insCC MANE Select	NP_055761.2:p.Arg431ProfsTer8
NM_199436.2:c.1195_1196insCC	NP_955468.1:p.Arg399ProfsTer8