Canonical Allele Identifier: CA346502534

Gene: SPAST

Linked Data

• ClinVar Variation Id: 488606
• ClinVar RCV Id: RCV000578417
• dbSNP Id: rs1553318347
• MyVariant Identifiers: chr2:g.32362248C>T (hg19) ; chr2:g.32137179C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32137179C>T , CM000664.2:g.32137179C>T	GRCh38
NC_000002.11:g.32362248C>T , CM000664.1:g.32362248C>T	GRCh37
NC_000002.10:g.32215752C>T	NCBI36
NG_008730.1:g.78569C>T , LRG_714:g.78569C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1144C>T	ENSP00000515816.1:n.*1144C>T
ENST00000315285.9:c.1484C>T MANE Select	ENSP00000320885.3:p.Ala495Val
ENST00000621856.2:c.1481C>T	ENSP00000482496.2:p.Ala494Val
ENST00000642281.1:c.1221C>T
ENST00000642455.1:c.1385C>T	ENSP00000493827.1:p.Ala462Val
ENST00000642751.1:c.1258C>T
ENST00000642999.1:c.1226C>T	ENSP00000496589.1:p.Ala409Val
ENST00000643327.1:c.551C>T
ENST00000643334.1:c.1064C>T
ENST00000644408.1:c.1360C>T
ENST00000644954.1:c.1130C>T	ENSP00000494312.1:p.Ala377Val
ENST00000645159.1:n.2221C>T
ENST00000645671.1:c.934C>T
ENST00000645730.1:c.663C>T
ENST00000646082.1:c.1130C>T
ENST00000646571.1:c.1388C>T	ENSP00000495015.1:p.Ala463Val
ENST00000647007.1:n.1176C>T
ENST00000647133.1:c.984C>T
ENST00000315285.7:c.1484C>T	ENSP00000320885.3:p.Ala495Val
ENST00000345662.5:c.1388C>T	ENSP00000340817.1:p.Ala463Val
ENST00000615843.4:c.1484C>T	ENSP00000480893.1:p.Ala495Val
ENST00000621856.1:c.1226C>T	ENSP00000482496.1:p.Ala409Val
NM_014946.3:c.1484C>T , LRG_714t1:c.1484C>T	NP_055761.2:p.Ala495Val
NM_199436.1:c.1388C>T	NP_955468.1:p.Ala463Val
XM_005264516.3:c.1481C>T	XP_005264573.1:p.Ala494Val
XM_011533067.1:c.1484C>T	XP_011531369.1:p.Ala495Val
NM_001363823.1:c.1481C>T	NP_001350752.1:p.Ala494Val
NM_001363875.1:c.1385C>T	NP_001350804.1:p.Ala462Val
XM_005264516.5:c.1481C>T	XP_005264573.1:p.Ala494Val
XM_011533067.2:c.1484C>T	XP_011531369.1:p.Ala495Val
XM_017004778.2:c.1388C>T	XP_016860267.1:p.Ala463Val
NM_001363823.2:c.1481C>T	NP_001350752.1:p.Ala494Val
NM_001363875.2:c.1385C>T	NP_001350804.1:p.Ala462Val
NM_001377959.1:c.1388C>T	NP_001364888.1:p.Ala463Val
NM_014946.4:c.1484C>T MANE Select	NP_055761.2:p.Ala495Val
NM_199436.2:c.1388C>T	NP_955468.1:p.Ala463Val