Canonical Allele Identifier: CA346501317

Gene: SPAST

Linked Data

• ClinVar Variation Id: 847453
• ClinVar RCV Id: RCV001050999
• dbSNP Id: rs1679217117
• MyVariant Identifiers: chr2:g.32352077G>A (hg19) ; chr2:g.32127008G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32127008G>A , CM000664.2:g.32127008G>A	GRCh38
NC_000002.11:g.32352077G>A , CM000664.1:g.32352077G>A	GRCh37
NC_000002.10:g.32205581G>A	NCBI36
NG_008730.1:g.68398G>A , LRG_714:g.68398G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*819G>A	ENSP00000515816.1:n.*819G>A
ENST00000315285.9:c.1159G>A MANE Select	ENSP00000320885.3:p.Gly387Arg
ENST00000621856.2:c.1156G>A	ENSP00000482496.2:p.Gly386Arg
ENST00000642281.1:c.983-9555G>A
ENST00000642455.1:c.1060G>A	ENSP00000493827.1:p.Gly354Arg
ENST00000642751.1:c.933G>A
ENST00000642999.1:c.901G>A	ENSP00000496589.1:p.Gly301Arg
ENST00000643327.1:c.318G>A
ENST00000643334.1:c.739G>A
ENST00000644408.1:c.1035G>A
ENST00000644954.1:c.805G>A	ENSP00000494312.1:p.Gly269Arg
ENST00000645159.1:n.511G>A
ENST00000645550.1:n.372G>A
ENST00000645671.1:c.609G>A
ENST00000645730.1:c.506G>A
ENST00000646082.1:c.805G>A
ENST00000646571.1:c.1063G>A	ENSP00000495015.1:p.Gly355Arg
ENST00000647007.1:n.851G>A
ENST00000647133.1:c.674-1400G>A
ENST00000315285.7:c.1159G>A	ENSP00000320885.3:p.Gly387Arg
ENST00000345662.5:c.1063G>A	ENSP00000340817.1:p.Gly355Arg
ENST00000615843.4:c.1159G>A	ENSP00000480893.1:p.Gly387Arg
ENST00000621856.1:c.901G>A	ENSP00000482496.1:p.Gly301Arg
NM_014946.3:c.1159G>A , LRG_714t1:c.1159G>A	NP_055761.2:p.Gly387Arg
NM_199436.1:c.1063G>A	NP_955468.1:p.Gly355Arg
XM_005264516.3:c.1156G>A	XP_005264573.1:p.Gly386Arg
XM_011533067.1:c.1159G>A	XP_011531369.1:p.Gly387Arg
NM_001363823.1:c.1156G>A	NP_001350752.1:p.Gly386Arg
NM_001363875.1:c.1060G>A	NP_001350804.1:p.Gly354Arg
XM_005264516.5:c.1156G>A	XP_005264573.1:p.Gly386Arg
XM_011533067.2:c.1159G>A	XP_011531369.1:p.Gly387Arg
XM_017004778.2:c.1063G>A	XP_016860267.1:p.Gly355Arg
NM_001363823.2:c.1156G>A	NP_001350752.1:p.Gly386Arg
NM_001363875.2:c.1060G>A	NP_001350804.1:p.Gly354Arg
NM_001377959.1:c.1063G>A	NP_001364888.1:p.Gly355Arg
NM_014946.4:c.1159G>A MANE Select	NP_055761.2:p.Gly387Arg
NM_199436.2:c.1063G>A	NP_955468.1:p.Gly355Arg