Canonical Allele Identifier: CA346502079

Gene: SPAST

Linked Data

• ClinVar Variation Id: 432722
• ClinVar RCV Id: RCV000497999 ; RCV000709819
• dbSNP Id: rs748779010
• gnomAD v2: 2-32361678-G-A
• gnomAD v4: 2-32136609-G-A
• MyVariant Identifiers: chr2:g.32361678G>A (hg19) ; chr2:g.32136609G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136609G>A , CM000664.2:g.32136609G>A	GRCh38
NC_000002.11:g.32361678G>A , CM000664.1:g.32361678G>A	GRCh37
NC_000002.10:g.32215182G>A	NCBI36
NG_008730.1:g.77999G>A , LRG_714:g.77999G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*952G>A	ENSP00000515816.1:n.*952G>A
ENST00000315285.9:c.1292G>A MANE Select	ENSP00000320885.3:p.Arg431Gln
ENST00000621856.2:c.1289G>A	ENSP00000482496.2:p.Arg430Gln
ENST00000642281.1:c.1029G>A
ENST00000642455.1:c.1193G>A	ENSP00000493827.1:p.Arg398Gln
ENST00000642751.1:c.1066G>A
ENST00000642999.1:c.1034G>A	ENSP00000496589.1:p.Arg345Gln
ENST00000643327.1:c.451G>A
ENST00000643334.1:c.872G>A
ENST00000644408.1:c.1168G>A
ENST00000644954.1:c.938G>A	ENSP00000494312.1:p.Arg313Gln
ENST00000645159.1:n.2029G>A
ENST00000645671.1:c.742G>A
ENST00000645730.1:c.593-500G>A
ENST00000646082.1:c.938G>A
ENST00000646571.1:c.1196G>A	ENSP00000495015.1:p.Arg399Gln
ENST00000647007.1:n.984G>A
ENST00000647133.1:c.792G>A
ENST00000315285.7:c.1292G>A	ENSP00000320885.3:p.Arg431Gln
ENST00000345662.5:c.1196G>A	ENSP00000340817.1:p.Arg399Gln
ENST00000615843.4:c.1292G>A	ENSP00000480893.1:p.Arg431Gln
ENST00000621856.1:c.1034G>A	ENSP00000482496.1:p.Arg345Gln
NM_014946.3:c.1292G>A , LRG_714t1:c.1292G>A	NP_055761.2:p.Arg431Gln
NM_199436.1:c.1196G>A	NP_955468.1:p.Arg399Gln
XM_005264516.3:c.1289G>A	XP_005264573.1:p.Arg430Gln
XM_011533067.1:c.1292G>A	XP_011531369.1:p.Arg431Gln
NM_001363823.1:c.1289G>A	NP_001350752.1:p.Arg430Gln
NM_001363875.1:c.1193G>A	NP_001350804.1:p.Arg398Gln
XM_005264516.5:c.1289G>A	XP_005264573.1:p.Arg430Gln
XM_011533067.2:c.1292G>A	XP_011531369.1:p.Arg431Gln
XM_017004778.2:c.1196G>A	XP_016860267.1:p.Arg399Gln
NM_001363823.2:c.1289G>A	NP_001350752.1:p.Arg430Gln
NM_001363875.2:c.1193G>A	NP_001350804.1:p.Arg398Gln
NM_001377959.1:c.1196G>A	NP_001364888.1:p.Arg399Gln
NM_014946.4:c.1292G>A MANE Select	NP_055761.2:p.Arg431Gln
NM_199436.2:c.1196G>A	NP_955468.1:p.Arg399Gln