Canonical Allele Identifier: CA346502469

Gene: SPAST

Linked Data

• ClinVar Variation Id: 536441
• ClinVar RCV Id: RCV000644892 ; RCV002222579
• dbSNP Id: rs1553318320
• MyVariant Identifiers: chr2:g.32362220A>G (hg19) ; chr2:g.32137151A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32137151A>G , CM000664.2:g.32137151A>G	GRCh38
NC_000002.11:g.32362220A>G , CM000664.1:g.32362220A>G	GRCh37
NC_000002.10:g.32215724A>G	NCBI36
NG_008730.1:g.78541A>G , LRG_714:g.78541A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1116A>G	ENSP00000515816.1:n.*1116A>G
ENST00000315285.9:c.1456A>G MANE Select	ENSP00000320885.3:p.Thr486Ala
ENST00000621856.2:c.1453A>G	ENSP00000482496.2:p.Thr485Ala
ENST00000642281.1:c.1193A>G
ENST00000642455.1:c.1357A>G	ENSP00000493827.1:p.Thr453Ala
ENST00000642751.1:c.1230A>G
ENST00000642999.1:c.1198A>G	ENSP00000496589.1:p.Thr400Ala
ENST00000643327.1:c.523A>G
ENST00000643334.1:c.1036A>G
ENST00000644408.1:c.1332A>G
ENST00000644954.1:c.1102A>G	ENSP00000494312.1:p.Thr368Ala
ENST00000645159.1:n.2193A>G
ENST00000645671.1:c.906A>G
ENST00000645730.1:c.635A>G
ENST00000646082.1:c.1102A>G
ENST00000646571.1:c.1360A>G	ENSP00000495015.1:p.Thr454Ala
ENST00000647007.1:n.1148A>G
ENST00000647133.1:c.956A>G
ENST00000315285.7:c.1456A>G	ENSP00000320885.3:p.Thr486Ala
ENST00000345662.5:c.1360A>G	ENSP00000340817.1:p.Thr454Ala
ENST00000615843.4:c.1456A>G	ENSP00000480893.1:p.Thr486Ala
ENST00000621856.1:c.1198A>G	ENSP00000482496.1:p.Thr400Ala
NM_014946.3:c.1456A>G , LRG_714t1:c.1456A>G	NP_055761.2:p.Thr486Ala
NM_199436.1:c.1360A>G	NP_955468.1:p.Thr454Ala
XM_005264516.3:c.1453A>G	XP_005264573.1:p.Thr485Ala
XM_011533067.1:c.1456A>G	XP_011531369.1:p.Thr486Ala
NM_001363823.1:c.1453A>G	NP_001350752.1:p.Thr485Ala
NM_001363875.1:c.1357A>G	NP_001350804.1:p.Thr453Ala
XM_005264516.5:c.1453A>G	XP_005264573.1:p.Thr485Ala
XM_011533067.2:c.1456A>G	XP_011531369.1:p.Thr486Ala
XM_017004778.2:c.1360A>G	XP_016860267.1:p.Thr454Ala
NM_001363823.2:c.1453A>G	NP_001350752.1:p.Thr485Ala
NM_001363875.2:c.1357A>G	NP_001350804.1:p.Thr453Ala
NM_001377959.1:c.1360A>G	NP_001364888.1:p.Thr454Ala
NM_014946.4:c.1456A>G MANE Select	NP_055761.2:p.Thr486Ala
NM_199436.2:c.1360A>G	NP_955468.1:p.Thr454Ala