Canonical Allele Identifier: CA346501869

Gene: SPAST

Linked Data

• ClinVar Variation Id: 1348218
• ClinVar RCV Id: RCV002050789
• dbSNP Id: rs1679543195
• MyVariant Identifiers: chr2:g.32361646G>T (hg19) ; chr2:g.32136577G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136577G>T , CM000664.2:g.32136577G>T	GRCh38
NC_000002.11:g.32361646G>T , CM000664.1:g.32361646G>T	GRCh37
NC_000002.10:g.32215150G>T	NCBI36
NG_008730.1:g.77967G>T , LRG_714:g.77967G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*920G>T	ENSP00000515816.1:n.*920G>T
ENST00000315285.9:c.1260G>T MANE Select	ENSP00000320885.3:p.Glu420Asp
ENST00000621856.2:c.1257G>T	ENSP00000482496.2:p.Glu419Asp
ENST00000642281.1:c.997G>T
ENST00000642455.1:c.1161G>T	ENSP00000493827.1:p.Glu387Asp
ENST00000642751.1:c.1034G>T
ENST00000642999.1:c.1002G>T	ENSP00000496589.1:p.Glu334Asp
ENST00000643327.1:c.419G>T
ENST00000643334.1:c.840G>T
ENST00000644408.1:c.1136G>T
ENST00000644954.1:c.906G>T	ENSP00000494312.1:p.Glu302Asp
ENST00000645159.1:n.1997G>T
ENST00000645671.1:c.710G>T
ENST00000645730.1:c.593-532G>T
ENST00000646082.1:c.906G>T
ENST00000646571.1:c.1164G>T	ENSP00000495015.1:p.Glu388Asp
ENST00000647007.1:n.952G>T
ENST00000647133.1:c.760G>T
ENST00000315285.7:c.1260G>T	ENSP00000320885.3:p.Glu420Asp
ENST00000345662.5:c.1164G>T	ENSP00000340817.1:p.Glu388Asp
ENST00000615843.4:c.1260G>T	ENSP00000480893.1:p.Glu420Asp
ENST00000621856.1:c.1002G>T	ENSP00000482496.1:p.Glu334Asp
NM_014946.3:c.1260G>T , LRG_714t1:c.1260G>T	NP_055761.2:p.Glu420Asp
NM_199436.1:c.1164G>T	NP_955468.1:p.Glu388Asp
XM_005264516.3:c.1257G>T	XP_005264573.1:p.Glu419Asp
XM_011533067.1:c.1260G>T	XP_011531369.1:p.Glu420Asp
NM_001363823.1:c.1257G>T	NP_001350752.1:p.Glu419Asp
NM_001363875.1:c.1161G>T	NP_001350804.1:p.Glu387Asp
XM_005264516.5:c.1257G>T	XP_005264573.1:p.Glu419Asp
XM_011533067.2:c.1260G>T	XP_011531369.1:p.Glu420Asp
XM_017004778.2:c.1164G>T	XP_016860267.1:p.Glu388Asp
NM_001363823.2:c.1257G>T	NP_001350752.1:p.Glu419Asp
NM_001363875.2:c.1161G>T	NP_001350804.1:p.Glu387Asp
NM_001377959.1:c.1164G>T	NP_001364888.1:p.Glu388Asp
NM_014946.4:c.1260G>T MANE Select	NP_055761.2:p.Glu420Asp
NM_199436.2:c.1164G>T	NP_955468.1:p.Glu388Asp