Canonical Allele Identifier: CA16610831

Gene: SPAST

Linked Data

• ClinVar Variation Id: 409032
• ClinVar RCV Id: RCV000468513 ; RCV003972759
• dbSNP Id: rs1060502228
• MyVariant Identifiers: chr2:g.32362247G>A (hg19) ; chr2:g.32137178G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32137178G>A , CM000664.2:g.32137178G>A	GRCh38
NC_000002.11:g.32362247G>A , CM000664.1:g.32362247G>A	GRCh37
NC_000002.10:g.32215751G>A	NCBI36
NG_008730.1:g.78568G>A , LRG_714:g.78568G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1143G>A	ENSP00000515816.1:n.*1143G>A
ENST00000315285.9:c.1483G>A MANE Select	ENSP00000320885.3:p.Ala495Thr
ENST00000621856.2:c.1480G>A	ENSP00000482496.2:p.Ala494Thr
ENST00000642281.1:c.1220G>A
ENST00000642455.1:c.1384G>A	ENSP00000493827.1:p.Ala462Thr
ENST00000642751.1:c.1257G>A
ENST00000642999.1:c.1225G>A	ENSP00000496589.1:p.Ala409Thr
ENST00000643327.1:c.550G>A
ENST00000643334.1:c.1063G>A
ENST00000644408.1:c.1359G>A
ENST00000644954.1:c.1129G>A	ENSP00000494312.1:p.Ala377Thr
ENST00000645159.1:n.2220G>A
ENST00000645671.1:c.933G>A
ENST00000645730.1:c.662G>A
ENST00000646082.1:c.1129G>A
ENST00000646571.1:c.1387G>A	ENSP00000495015.1:p.Ala463Thr
ENST00000647007.1:n.1175G>A
ENST00000647133.1:c.983G>A
ENST00000315285.7:c.1483G>A	ENSP00000320885.3:p.Ala495Thr
ENST00000345662.5:c.1387G>A	ENSP00000340817.1:p.Ala463Thr
ENST00000615843.4:c.1483G>A	ENSP00000480893.1:p.Ala495Thr
ENST00000621856.1:c.1225G>A	ENSP00000482496.1:p.Ala409Thr
NM_014946.3:c.1483G>A , LRG_714t1:c.1483G>A	NP_055761.2:p.Ala495Thr
NM_199436.1:c.1387G>A	NP_955468.1:p.Ala463Thr
XM_005264516.3:c.1480G>A	XP_005264573.1:p.Ala494Thr
XM_011533067.1:c.1483G>A	XP_011531369.1:p.Ala495Thr
NM_001363823.1:c.1480G>A	NP_001350752.1:p.Ala494Thr
NM_001363875.1:c.1384G>A	NP_001350804.1:p.Ala462Thr
XM_005264516.5:c.1480G>A	XP_005264573.1:p.Ala494Thr
XM_011533067.2:c.1483G>A	XP_011531369.1:p.Ala495Thr
XM_017004778.2:c.1387G>A	XP_016860267.1:p.Ala463Thr
NM_001363823.2:c.1480G>A	NP_001350752.1:p.Ala494Thr
NM_001363875.2:c.1384G>A	NP_001350804.1:p.Ala462Thr
NM_001377959.1:c.1387G>A	NP_001364888.1:p.Ala463Thr
NM_014946.4:c.1483G>A MANE Select	NP_055761.2:p.Ala495Thr
NM_199436.2:c.1387G>A	NP_955468.1:p.Ala463Thr