Canonical Allele Identifier: CA2697547952

Gene: SPAST

Linked Data

• ClinVar Variation Id: 2684010
• ClinVar RCV Id: RCV003482506

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136621_32136627dup , CM000664.2:g.32136621_32136627dup	GRCh38
NC_000002.11:g.32361690_32361696dup , CM000664.1:g.32361690_32361696dup	GRCh37
NC_000002.10:g.32215194_32215200dup	NCBI36
NG_008730.1:g.78011_78017dup , LRG_714:g.78011_78017dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*964_*970dup	ENSP00000515816.1:n.*964_*970dup
ENST00000315285.9:c.1304_1310dup MANE Select	ENSP00000320885.3:p.Ile438PhefsTer7
ENST00000621856.2:c.1301_1307dup	ENSP00000482496.2:p.Ile437PhefsTer7
ENST00000642281.1:c.1041_1047dup
ENST00000642455.1:c.1205_1211dup	ENSP00000493827.1:p.Ile405PhefsTer7
ENST00000642751.1:c.1078_1084dup
ENST00000642999.1:c.1046_1052dup	ENSP00000496589.1:p.Ile352PhefsTer7
ENST00000643327.1:c.463_469dup
ENST00000643334.1:c.884_890dup
ENST00000644408.1:c.1180_1186dup
ENST00000644954.1:c.950_956dup	ENSP00000494312.1:p.Ile320PhefsTer7
ENST00000645159.1:n.2041_2047dup
ENST00000645671.1:c.754_760dup
ENST00000645730.1:c.593-488_593-482dup
ENST00000646082.1:c.950_956dup
ENST00000646571.1:c.1208_1214dup	ENSP00000495015.1:p.Ile406PhefsTer7
ENST00000647007.1:n.996_1002dup
ENST00000647133.1:c.804_810dup
ENST00000315285.7:c.1304_1310dup	ENSP00000320885.3:p.Ile438PhefsTer7
ENST00000345662.5:c.1208_1214dup	ENSP00000340817.1:p.Ile406PhefsTer7
ENST00000615843.4:c.1304_1310dup	ENSP00000480893.1:p.Ile438PhefsTer7
ENST00000621856.1:c.1046_1052dup	ENSP00000482496.1:p.Ile352PhefsTer7
NM_014946.3:c.1304_1310dup , LRG_714t1:c.1304_1310dup	NP_055761.2:p.Ile438PhefsTer7
NM_199436.1:c.1208_1214dup	NP_955468.1:p.Ile406PhefsTer7
XM_005264516.3:c.1301_1307dup	XP_005264573.1:p.Ile437PhefsTer7
XM_011533067.1:c.1304_1310dup	XP_011531369.1:p.Ile438PhefsTer7
NM_001363823.1:c.1301_1307dup	NP_001350752.1:p.Ile437PhefsTer7
NM_001363875.1:c.1205_1211dup	NP_001350804.1:p.Ile405PhefsTer7
XM_005264516.5:c.1301_1307dup	XP_005264573.1:p.Ile437PhefsTer7
XM_011533067.2:c.1304_1310dup	XP_011531369.1:p.Ile438PhefsTer7
XM_017004778.2:c.1208_1214dup	XP_016860267.1:p.Ile406PhefsTer7
NM_001363823.2:c.1301_1307dup	NP_001350752.1:p.Ile437PhefsTer7
NM_001363875.2:c.1205_1211dup	NP_001350804.1:p.Ile405PhefsTer7
NM_001377959.1:c.1208_1214dup	NP_001364888.1:p.Ile406PhefsTer7
NM_014946.4:c.1304_1310dup MANE Select	NP_055761.2:p.Ile438PhefsTer7
NM_199436.2:c.1208_1214dup	NP_955468.1:p.Ile406PhefsTer7