Canonical Allele Identifier: CA349419

Gene: SPAST

Linked Data

• ClinVar Variation Id: 219608
• ClinVar RCV Id: RCV000205236 ; RCV000432874 ; RCV001847924
• dbSNP Id: rs864622179
• gnomAD v4: 2-32144996-G-A
• MyVariant Identifiers: chr2:g.32370065G>A (hg19) ; chr2:g.32144996G>A (hg38)
• PubMed: PMID:11087788 ; PMID:11843700 ; PMID:15248095 ; PMID:17598600 ; PMID:20718791 ; PMID:22960362

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32144996G>A , CM000664.2:g.32144996G>A	GRCh38
NC_000002.11:g.32370065G>A , CM000664.1:g.32370065G>A	GRCh37
NC_000002.10:g.32223569G>A	NCBI36
NG_008730.1:g.86386G>A , LRG_714:g.86386G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1336G>A	ENSP00000515816.1:n.*1336G>A
ENST00000315285.9:c.1676G>A MANE Select	ENSP00000320885.3:p.Gly559Asp
ENST00000621856.2:c.1673G>A	ENSP00000482496.2:p.Gly558Asp
ENST00000642281.1:c.1413G>A
ENST00000642455.1:c.1577G>A	ENSP00000493827.1:p.Gly526Asp
ENST00000642751.1:c.1390+1581G>A
ENST00000642999.1:c.1418G>A	ENSP00000496589.1:p.Gly473Asp
ENST00000643334.1:c.1256G>A
ENST00000644408.1:c.1552G>A
ENST00000644954.1:c.1322G>A	ENSP00000494312.1:p.Gly441Asp
ENST00000645159.1:n.2413G>A
ENST00000645671.1:c.1066+1581G>A
ENST00000645730.1:c.855G>A
ENST00000646082.1:c.1322G>A
ENST00000646571.1:c.1580G>A	ENSP00000495015.1:p.Gly527Asp
ENST00000647007.1:n.1368G>A
ENST00000647133.1:c.1176G>A
ENST00000315285.7:c.1676G>A	ENSP00000320885.3:p.Gly559Asp
ENST00000345662.5:c.1580G>A	ENSP00000340817.1:p.Gly527Asp
ENST00000615843.4:c.1676G>A	ENSP00000480893.1:p.Gly559Asp
ENST00000621856.1:c.1418G>A	ENSP00000482496.1:p.Gly473Asp
NM_014946.3:c.1676G>A , LRG_714t1:c.1676G>A	NP_055761.2:p.Gly559Asp
NM_199436.1:c.1580G>A	NP_955468.1:p.Gly527Asp
XM_005264516.3:c.1673G>A	XP_005264573.1:p.Gly558Asp
XM_011533067.1:c.1616+1581G>A	XP_011531369.1:n.1616+1581G>A
NM_001363823.1:c.1673G>A	NP_001350752.1:p.Gly558Asp
NM_001363875.1:c.1577G>A	NP_001350804.1:p.Gly526Asp
XM_005264516.5:c.1673G>A	XP_005264573.1:p.Gly558Asp
XM_011533067.2:c.1616+1581G>A	XP_011531369.1:n.1616+1581G>A
XM_017004778.2:c.1520+1581G>A	XP_016860267.1:n.1520+1581G>A
NM_001363823.2:c.1673G>A	NP_001350752.1:p.Gly558Asp
NM_001363875.2:c.1577G>A	NP_001350804.1:p.Gly526Asp
NM_001377959.1:c.1520+1581G>A	NP_001364888.1:n.1520+1581G>A
NM_014946.4:c.1676G>A MANE Select	NP_055761.2:p.Gly559Asp
NM_199436.2:c.1580G>A	NP_955468.1:p.Gly527Asp