Canonical Allele Identifier: CA2580611618

Gene: SPAST

Linked Data

• ClinVar Variation Id: 1807012
• ClinVar RCV Id: RCV002474441

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32126989_32126990dup , CM000664.2:g.32126989_32126990dup	GRCh38
NC_000002.11:g.32352058_32352059dup , CM000664.1:g.32352058_32352059dup	GRCh37
NC_000002.10:g.32205562_32205563dup	NCBI36
NG_008730.1:g.68379_68380dup , LRG_714:g.68379_68380dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*800_*801dup	ENSP00000515816.1:n.*800_*801dup
ENST00000315285.9:c.1140_1141dup MANE Select	ENSP00000320885.3:p.Phe381SerfsTer16
ENST00000621856.2:c.1137_1138dup	ENSP00000482496.2:p.Phe380SerfsTer16
ENST00000642281.1:c.983-9574_983-9573dup
ENST00000642455.1:c.1041_1042dup	ENSP00000493827.1:p.Phe348SerfsTer16
ENST00000642751.1:c.914_915dup
ENST00000642999.1:c.882_883dup	ENSP00000496589.1:p.Phe295SerfsTer16
ENST00000643327.1:c.299_300dup
ENST00000643334.1:c.720_721dup
ENST00000644408.1:c.1016_1017dup
ENST00000644954.1:c.786_787dup	ENSP00000494312.1:p.Phe263SerfsTer16
ENST00000645159.1:n.492_493dup
ENST00000645550.1:n.353_354dup
ENST00000645671.1:c.590_591dup
ENST00000645730.1:c.487_488dup
ENST00000646082.1:c.786_787dup
ENST00000646571.1:c.1044_1045dup	ENSP00000495015.1:p.Phe349SerfsTer16
ENST00000647007.1:n.832_833dup
ENST00000647133.1:c.674-1419_674-1418dup
ENST00000315285.7:c.1140_1141dup	ENSP00000320885.3:p.Phe381SerfsTer16
ENST00000345662.5:c.1044_1045dup	ENSP00000340817.1:p.Phe349SerfsTer16
ENST00000615843.4:c.1140_1141dup	ENSP00000480893.1:p.Phe381SerfsTer16
ENST00000621856.1:c.882_883dup	ENSP00000482496.1:p.Phe295SerfsTer16
NM_014946.3:c.1140_1141dup , LRG_714t1:c.1140_1141dup	NP_055761.2:p.Phe381SerfsTer16
NM_199436.1:c.1044_1045dup	NP_955468.1:p.Phe349SerfsTer16
XM_005264516.3:c.1137_1138dup	XP_005264573.1:p.Phe380SerfsTer16
XM_011533067.1:c.1140_1141dup	XP_011531369.1:p.Phe381SerfsTer16
NM_001363823.1:c.1137_1138dup	NP_001350752.1:p.Phe380SerfsTer16
NM_001363875.1:c.1041_1042dup	NP_001350804.1:p.Phe348SerfsTer16
XM_005264516.5:c.1137_1138dup	XP_005264573.1:p.Phe380SerfsTer16
XM_011533067.2:c.1140_1141dup	XP_011531369.1:p.Phe381SerfsTer16
XM_017004778.2:c.1044_1045dup	XP_016860267.1:p.Phe349SerfsTer16
NM_001363823.2:c.1137_1138dup	NP_001350752.1:p.Phe380SerfsTer16
NM_001363875.2:c.1041_1042dup	NP_001350804.1:p.Phe348SerfsTer16
NM_001377959.1:c.1044_1045dup	NP_001364888.1:p.Phe349SerfsTer16
NM_014946.4:c.1140_1141dup MANE Select	NP_055761.2:p.Phe381SerfsTer16
NM_199436.2:c.1044_1045dup	NP_955468.1:p.Phe349SerfsTer16