Canonical Allele Identifier: CA346501421

Gene: SPAST

Linked Data

• dbSNP Id: rs1276181955
• gnomAD v2: 2-32353505-C-A
• MyVariant Identifiers: chr2:g.32353505C>A (hg19) ; chr2:g.32128436C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128436C>A , CM000664.2:g.32128436C>A	GRCh38
NC_000002.11:g.32353505C>A , CM000664.1:g.32353505C>A	GRCh37
NC_000002.10:g.32207009C>A	NCBI36
NG_008730.1:g.69826C>A , LRG_714:g.69826C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*862C>A	ENSP00000515816.1:n.*862C>A
ENST00000315285.9:c.1202C>A MANE Select	ENSP00000320885.3:p.Ala401Glu
ENST00000621856.2:c.1199C>A	ENSP00000482496.2:p.Ala400Glu
ENST00000642281.1:c.983-8127C>A
ENST00000642455.1:c.1103C>A	ENSP00000493827.1:p.Ala368Glu
ENST00000642751.1:c.976C>A
ENST00000642999.1:c.944C>A	ENSP00000496589.1:p.Ala315Glu
ENST00000643327.1:c.361C>A
ENST00000643334.1:c.782C>A
ENST00000644408.1:c.1078C>A
ENST00000644954.1:c.848C>A	ENSP00000494312.1:p.Ala283Glu
ENST00000645159.1:n.1939C>A
ENST00000645550.1:n.415C>A
ENST00000645671.1:c.652C>A
ENST00000645730.1:c.549C>A
ENST00000646082.1:c.848C>A
ENST00000646571.1:c.1106C>A	ENSP00000495015.1:p.Ala369Glu
ENST00000647007.1:n.894C>A
ENST00000647133.1:c.702C>A
ENST00000315285.7:c.1202C>A	ENSP00000320885.3:p.Ala401Glu
ENST00000345662.5:c.1106C>A	ENSP00000340817.1:p.Ala369Glu
ENST00000615843.4:c.1202C>A	ENSP00000480893.1:p.Ala401Glu
ENST00000621856.1:c.944C>A	ENSP00000482496.1:p.Ala315Glu
NM_014946.3:c.1202C>A , LRG_714t1:c.1202C>A	NP_055761.2:p.Ala401Glu
NM_199436.1:c.1106C>A	NP_955468.1:p.Ala369Glu
XM_005264516.3:c.1199C>A	XP_005264573.1:p.Ala400Glu
XM_011533067.1:c.1202C>A	XP_011531369.1:p.Ala401Glu
NM_001363823.1:c.1199C>A	NP_001350752.1:p.Ala400Glu
NM_001363875.1:c.1103C>A	NP_001350804.1:p.Ala368Glu
XM_005264516.5:c.1199C>A	XP_005264573.1:p.Ala400Glu
XM_011533067.2:c.1202C>A	XP_011531369.1:p.Ala401Glu
XM_017004778.2:c.1106C>A	XP_016860267.1:p.Ala369Glu
NM_001363823.2:c.1199C>A	NP_001350752.1:p.Ala400Glu
NM_001363875.2:c.1103C>A	NP_001350804.1:p.Ala368Glu
NM_001377959.1:c.1106C>A	NP_001364888.1:p.Ala369Glu
NM_014946.4:c.1202C>A MANE Select	NP_055761.2:p.Ala401Glu
NM_199436.2:c.1106C>A	NP_955468.1:p.Ala369Glu