Canonical Allele Identifier: CA346501834

Gene: SPAST

Linked Data

• ClinVar Variation Id: 943524
• ClinVar RCV Id: RCV001213726 ; RCV001819904
• dbSNP Id: rs1553318161
• MyVariant Identifiers: chr2:g.32361636G>A (hg19) ; chr2:g.32136567G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136567G>A , CM000664.2:g.32136567G>A	GRCh38
NC_000002.11:g.32361636G>A , CM000664.1:g.32361636G>A	GRCh37
NC_000002.10:g.32215140G>A	NCBI36
NG_008730.1:g.77957G>A , LRG_714:g.77957G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*910G>A	ENSP00000515816.1:n.*910G>A
ENST00000315285.9:c.1250G>A MANE Select	ENSP00000320885.3:p.Gly417Glu
ENST00000621856.2:c.1247G>A	ENSP00000482496.2:p.Gly416Glu
ENST00000642281.1:c.987G>A
ENST00000642455.1:c.1151G>A	ENSP00000493827.1:p.Gly384Glu
ENST00000642751.1:c.1024G>A
ENST00000642999.1:c.992G>A	ENSP00000496589.1:p.Gly331Glu
ENST00000643327.1:c.409G>A
ENST00000643334.1:c.830G>A
ENST00000644408.1:c.1126G>A
ENST00000644954.1:c.896G>A	ENSP00000494312.1:p.Gly299Glu
ENST00000645159.1:n.1987G>A
ENST00000645671.1:c.700G>A
ENST00000645730.1:c.593-542G>A
ENST00000646082.1:c.896G>A
ENST00000646571.1:c.1154G>A	ENSP00000495015.1:p.Gly385Glu
ENST00000647007.1:n.942G>A
ENST00000647133.1:c.750G>A
ENST00000315285.7:c.1250G>A	ENSP00000320885.3:p.Gly417Glu
ENST00000345662.5:c.1154G>A	ENSP00000340817.1:p.Gly385Glu
ENST00000615843.4:c.1250G>A	ENSP00000480893.1:p.Gly417Glu
ENST00000621856.1:c.992G>A	ENSP00000482496.1:p.Gly331Glu
NM_014946.3:c.1250G>A , LRG_714t1:c.1250G>A	NP_055761.2:p.Gly417Glu
NM_199436.1:c.1154G>A	NP_955468.1:p.Gly385Glu
XM_005264516.3:c.1247G>A	XP_005264573.1:p.Gly416Glu
XM_011533067.1:c.1250G>A	XP_011531369.1:p.Gly417Glu
NM_001363823.1:c.1247G>A	NP_001350752.1:p.Gly416Glu
NM_001363875.1:c.1151G>A	NP_001350804.1:p.Gly384Glu
XM_005264516.5:c.1247G>A	XP_005264573.1:p.Gly416Glu
XM_011533067.2:c.1250G>A	XP_011531369.1:p.Gly417Glu
XM_017004778.2:c.1154G>A	XP_016860267.1:p.Gly385Glu
NM_001363823.2:c.1247G>A	NP_001350752.1:p.Gly416Glu
NM_001363875.2:c.1151G>A	NP_001350804.1:p.Gly384Glu
NM_001377959.1:c.1154G>A	NP_001364888.1:p.Gly385Glu
NM_014946.4:c.1250G>A MANE Select	NP_055761.2:p.Gly417Glu
NM_199436.2:c.1154G>A	NP_955468.1:p.Gly385Glu