Canonical Allele Identifier: CA16617528

Gene: SPAST

Linked Data

• ClinVar Variation Id: 418502
• ClinVar RCV Id: RCV000481977 ; RCV002525773
• dbSNP Id: rs1064793273
• MyVariant Identifiers: chr2:g.32353528G>A (hg19) ; chr2:g.32128459G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128459G>A , CM000664.2:g.32128459G>A	GRCh38
NC_000002.11:g.32353528G>A , CM000664.1:g.32353528G>A	GRCh37
NC_000002.10:g.32207032G>A	NCBI36
NG_008730.1:g.69849G>A , LRG_714:g.69849G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*885G>A	ENSP00000515816.1:n.*885G>A
ENST00000315285.9:c.1225G>A MANE Select	ENSP00000320885.3:p.Ala409Thr
ENST00000621856.2:c.1222G>A	ENSP00000482496.2:p.Ala408Thr
ENST00000642281.1:c.983-8104G>A
ENST00000642455.1:c.1126G>A	ENSP00000493827.1:p.Ala376Thr
ENST00000642751.1:c.999G>A
ENST00000642999.1:c.967G>A	ENSP00000496589.1:p.Ala323Thr
ENST00000643327.1:c.384G>A
ENST00000643334.1:c.805G>A
ENST00000644408.1:c.1101G>A
ENST00000644954.1:c.871G>A	ENSP00000494312.1:p.Ala291Thr
ENST00000645159.1:n.1962G>A
ENST00000645550.1:n.438G>A
ENST00000645671.1:c.675G>A
ENST00000645730.1:c.572G>A
ENST00000646082.1:c.871G>A
ENST00000646571.1:c.1129G>A	ENSP00000495015.1:p.Ala377Thr
ENST00000647007.1:n.917G>A
ENST00000647133.1:c.725G>A
ENST00000315285.7:c.1225G>A	ENSP00000320885.3:p.Ala409Thr
ENST00000345662.5:c.1129G>A	ENSP00000340817.1:p.Ala377Thr
ENST00000615843.4:c.1225G>A	ENSP00000480893.1:p.Ala409Thr
ENST00000621856.1:c.967G>A	ENSP00000482496.1:p.Ala323Thr
NM_014946.3:c.1225G>A , LRG_714t1:c.1225G>A	NP_055761.2:p.Ala409Thr
NM_199436.1:c.1129G>A	NP_955468.1:p.Ala377Thr
XM_005264516.3:c.1222G>A	XP_005264573.1:p.Ala408Thr
XM_011533067.1:c.1225G>A	XP_011531369.1:p.Ala409Thr
NM_001363823.1:c.1222G>A	NP_001350752.1:p.Ala408Thr
NM_001363875.1:c.1126G>A	NP_001350804.1:p.Ala376Thr
XM_005264516.5:c.1222G>A	XP_005264573.1:p.Ala408Thr
XM_011533067.2:c.1225G>A	XP_011531369.1:p.Ala409Thr
XM_017004778.2:c.1129G>A	XP_016860267.1:p.Ala377Thr
NM_001363823.2:c.1222G>A	NP_001350752.1:p.Ala408Thr
NM_001363875.2:c.1126G>A	NP_001350804.1:p.Ala376Thr
NM_001377959.1:c.1129G>A	NP_001364888.1:p.Ala377Thr
NM_014946.4:c.1225G>A MANE Select	NP_055761.2:p.Ala409Thr
NM_199436.2:c.1129G>A	NP_955468.1:p.Ala377Thr