Canonical Allele Identifier: CA1139656845

Gene: SPAST

Linked Data

• ClinVar Variation Id: 994984
• ClinVar RCV Id: RCV001288795
• dbSNP Id: rs1676417081

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32064236_32064240dup , CM000664.2:g.32064236_32064240dup	GRCh38
NC_000002.11:g.32289305_32289309dup , CM000664.1:g.32289305_32289309dup	GRCh37
NC_000002.10:g.32142809_32142813dup	NCBI36
NG_008730.1:g.5626_5630dup , LRG_714:g.5626_5630dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.405_409dup	ENSP00000515816.1:p.Glu137GlyfsTer?
ENST00000315285.9:c.405_409dup MANE Select	ENSP00000320885.3:p.Glu137GlyfsTer26
ENST00000621856.2:c.405_409dup	ENSP00000482496.2:p.Glu137GlyfsTer25
ENST00000642281.1:c.289_293dup
ENST00000642455.1:c.405_409dup	ENSP00000493827.1:p.Glu137GlyfsTer25
ENST00000642751.1:c.275_279dup
ENST00000642999.1:c.147_151dup	ENSP00000496589.1:p.Glu51GlyfsTer26
ENST00000644408.1:c.281_285dup
ENST00000644954.1:c.147_151dup	ENSP00000494312.1:p.Glu51GlyfsTer26
ENST00000645400.1:c.246_250dup	ENSP00000496306.1:p.Glu84GlyfsTer5
ENST00000645671.1:c.26_30dup
ENST00000646082.1:c.239_243dup
ENST00000646571.1:c.405_409dup	ENSP00000495015.1:p.Glu137GlyfsTer26
ENST00000315285.7:c.405_409dup	ENSP00000320885.3:p.Glu137GlyfsTer26
ENST00000345662.5:c.405_409dup	ENSP00000340817.1:p.Glu137GlyfsTer26
ENST00000615843.4:c.405_409dup	ENSP00000480893.1:p.Glu137GlyfsTer26
ENST00000621856.1:c.147_151dup	ENSP00000482496.1:p.Glu51GlyfsTer26
NM_014946.3:c.405_409dup , LRG_714t1:c.405_409dup	NP_055761.2:p.Glu137GlyfsTer26
NM_199436.1:c.405_409dup	NP_955468.1:p.Glu137GlyfsTer26
XM_005264516.3:c.405_409dup	XP_005264573.1:p.Glu137GlyfsTer25
XM_011533067.1:c.405_409dup	XP_011531369.1:p.Glu137GlyfsTer26
NM_001363823.1:c.405_409dup	NP_001350752.1:p.Glu137GlyfsTer25
NM_001363875.1:c.405_409dup	NP_001350804.1:p.Glu137GlyfsTer25
XM_005264516.5:c.405_409dup	XP_005264573.1:p.Glu137GlyfsTer25
XM_011533067.2:c.405_409dup	XP_011531369.1:p.Glu137GlyfsTer26
XM_017004778.2:c.405_409dup	XP_016860267.1:p.Glu137GlyfsTer26
NM_001363823.2:c.405_409dup	NP_001350752.1:p.Glu137GlyfsTer25
NM_001363875.2:c.405_409dup	NP_001350804.1:p.Glu137GlyfsTer25
NM_001377959.1:c.405_409dup	NP_001364888.1:p.Glu137GlyfsTer26
NM_014946.4:c.405_409dup MANE Select	NP_055761.2:p.Glu137GlyfsTer26
NM_199436.2:c.405_409dup	NP_955468.1:p.Glu137GlyfsTer26