Canonical Allele Identifier: CA2739274298

Gene: SPAST

Linked Data

• ClinVar Variation Id: 2854252
• ClinVar RCV Id: RCV003635326

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128481_32128483dup , CM000664.2:g.32128481_32128483dup	GRCh38
NC_000002.11:g.32353550_32353552dup , CM000664.1:g.32353550_32353552dup	GRCh37
NC_000002.10:g.32207054_32207056dup	NCBI36
NG_008730.1:g.69871_69873dup , LRG_714:g.69871_69873dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*905+2_*905+4dup	ENSP00000515816.1:n.*905+2_*905+4dup
ENST00000315285.9:c.1245+2_1245+4dup MANE Select	ENSP00000320885.3:n.1245+2_1245+4dup
ENST00000621856.2:c.1242+2_1242+4dup	ENSP00000482496.2:n.1242+2_1242+4dup
ENST00000642281.1:c.983-8082_983-8080dup
ENST00000642455.1:c.1146+2_1146+4dup	ENSP00000493827.1:n.1146+2_1146+4dup
ENST00000642751.1:c.1019+2_1019+4dup
ENST00000642999.1:c.987+2_987+4dup	ENSP00000496589.1:n.987+2_987+4dup
ENST00000643327.1:c.404+2_404+4dup
ENST00000643334.1:c.825+2_825+4dup
ENST00000644408.1:c.1121+2_1121+4dup
ENST00000644954.1:c.891+2_891+4dup	ENSP00000494312.1:n.891+2_891+4dup
ENST00000645159.1:n.1982+2_1982+4dup
ENST00000645550.1:n.460_462dup
ENST00000645671.1:c.695+2_695+4dup
ENST00000645730.1:c.592+2_592+4dup
ENST00000646082.1:c.891+2_891+4dup
ENST00000646571.1:c.1149+2_1149+4dup	ENSP00000495015.1:n.1149+2_1149+4dup
ENST00000647007.1:n.937+2_937+4dup
ENST00000647133.1:c.745+2_745+4dup
ENST00000315285.7:c.1245+2_1245+4dup	ENSP00000320885.3:n.1245+2_1245+4dup
ENST00000345662.5:c.1149+2_1149+4dup	ENSP00000340817.1:n.1149+2_1149+4dup
ENST00000615843.4:c.1245+2_1245+4dup	ENSP00000480893.1:n.1245+2_1245+4dup
ENST00000621856.1:c.987+2_987+4dup	ENSP00000482496.1:n.987+2_987+4dup
NM_014946.3:c.1245+2_1245+4dup , LRG_714t1:c.1245+2_1245+4dup	NP_055761.2:n.1245+2_1245+4dup
NM_199436.1:c.1149+2_1149+4dup	NP_955468.1:n.1149+2_1149+4dup
XM_005264516.3:c.1242+2_1242+4dup	XP_005264573.1:n.1242+2_1242+4dup
XM_011533067.1:c.1245+2_1245+4dup	XP_011531369.1:n.1245+2_1245+4dup
NM_001363823.1:c.1242+2_1242+4dup	NP_001350752.1:n.1242+2_1242+4dup
NM_001363875.1:c.1146+2_1146+4dup	NP_001350804.1:n.1146+2_1146+4dup
XM_005264516.5:c.1242+2_1242+4dup	XP_005264573.1:n.1242+2_1242+4dup
XM_011533067.2:c.1245+2_1245+4dup	XP_011531369.1:n.1245+2_1245+4dup
XM_017004778.2:c.1149+2_1149+4dup	XP_016860267.1:n.1149+2_1149+4dup
NM_001363823.2:c.1242+2_1242+4dup	NP_001350752.1:n.1242+2_1242+4dup
NM_001363875.2:c.1146+2_1146+4dup	NP_001350804.1:n.1146+2_1146+4dup
NM_001377959.1:c.1149+2_1149+4dup	NP_001364888.1:n.1149+2_1149+4dup
NM_014946.4:c.1245+2_1245+4dup MANE Select	NP_055761.2:n.1245+2_1245+4dup
NM_199436.2:c.1149+2_1149+4dup	NP_955468.1:n.1149+2_1149+4dup