Canonical Allele Identifier: CA346504398

Gene: SPAST

Linked Data

• ClinVar Variation Id: 994981
• ClinVar RCV Id: RCV001288791 ; RCV001871722
• dbSNP Id: rs1060502225
• gnomAD v4: 2-32147258-G-T
• MyVariant Identifiers: chr2:g.32372327G>T (hg19) ; chr2:g.32147258G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32147258G>T , CM000664.2:g.32147258G>T	GRCh38
NC_000002.11:g.32372327G>T , CM000664.1:g.32372327G>T	GRCh37
NC_000002.10:g.32225831G>T	NCBI36
NG_008730.1:g.88648G>T , LRG_714:g.88648G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1388G>T	ENSP00000515816.1:n.*1388G>T
ENST00000315285.9:c.1728G>T MANE Select	ENSP00000320885.3:p.Glu576Asp
ENST00000621856.2:c.1725G>T	ENSP00000482496.2:p.Glu575Asp
ENST00000642281.1:c.1465G>T
ENST00000642455.1:c.1629G>T	ENSP00000493827.1:p.Glu543Asp
ENST00000642751.1:c.1431G>T
ENST00000642999.1:c.1470G>T	ENSP00000496589.1:p.Glu490Asp
ENST00000643334.1:c.1308G>T
ENST00000644408.1:c.1627G>T
ENST00000644954.1:c.1374G>T	ENSP00000494312.1:p.Glu458Asp
ENST00000645159.1:n.2465G>T
ENST00000645671.1:c.1107G>T
ENST00000645730.1:c.907G>T
ENST00000646082.1:c.1374G>T
ENST00000646571.1:c.1632G>T	ENSP00000495015.1:p.Glu544Asp
ENST00000647007.1:n.1420G>T
ENST00000647133.1:c.1228G>T
ENST00000315285.7:c.1728G>T	ENSP00000320885.3:p.Glu576Asp
ENST00000345662.5:c.1632G>T	ENSP00000340817.1:p.Glu544Asp
ENST00000615843.4:c.1728G>T	ENSP00000480893.1:p.Glu576Asp
ENST00000621856.1:c.1470G>T	ENSP00000482496.1:p.Glu490Asp
NM_014946.3:c.1728G>T , LRG_714t1:c.1728G>T	NP_055761.2:p.Glu576Asp
NM_199436.1:c.1632G>T	NP_955468.1:p.Glu544Asp
XM_005264516.3:c.1725G>T	XP_005264573.1:p.Glu575Asp
XM_011533067.1:c.*1G>T	XP_011531369.1:n.*1G>T
NM_001363823.1:c.1725G>T	NP_001350752.1:p.Glu575Asp
NM_001363875.1:c.1629G>T	NP_001350804.1:p.Glu543Asp
XM_005264516.5:c.1725G>T	XP_005264573.1:p.Glu575Asp
XM_011533067.2:c.*1G>T	XP_011531369.1:n.*1G>T
XM_017004778.2:c.*1G>T	XP_016860267.1:n.*1G>T
NM_001363823.2:c.1725G>T	NP_001350752.1:p.Glu575Asp
NM_001363875.2:c.1629G>T	NP_001350804.1:p.Glu543Asp
NM_001377959.1:c.*1G>T	NP_001364888.1:n.*1G>T
NM_014946.4:c.1728G>T MANE Select	NP_055761.2:p.Glu576Asp
NM_199436.2:c.1632G>T	NP_955468.1:p.Glu544Asp