Canonical Allele Identifier: CA346498584

Gene: SPAST

Linked Data

• ClinVar Variation Id: 448454
• ClinVar RCV Id: RCV000517216 ; RCV003522985
• dbSNP Id: rs768241184
• MyVariant Identifiers: chr2:g.32339806C>A (hg19) ; chr2:g.32114737C>A (hg38)
• PubMed: PMID:10699187

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32114737C>A , CM000664.2:g.32114737C>A	GRCh38
NC_000002.11:g.32339806C>A , CM000664.1:g.32339806C>A	GRCh37
NC_000002.10:g.32193310C>A	NCBI36
NG_008730.1:g.56127C>A , LRG_714:g.56127C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*442C>A	ENSP00000515816.1:n.*442C>A
ENST00000315285.9:c.782C>A MANE Select	ENSP00000320885.3:p.Ser261Ter
ENST00000621856.2:c.779C>A	ENSP00000482496.2:p.Ser260Ter
ENST00000642281.1:c.666C>A
ENST00000642455.1:c.683C>A	ENSP00000493827.1:p.Ser228Ter
ENST00000642751.1:c.556C>A
ENST00000642999.1:c.524C>A	ENSP00000496589.1:p.Ser175Ter
ENST00000643334.1:c.362C>A
ENST00000644408.1:c.658C>A
ENST00000644954.1:c.428C>A	ENSP00000494312.1:p.Ser143Ter
ENST00000645400.1:c.738C>A	ENSP00000496306.1:n.738C>A
ENST00000645671.1:c.232C>A
ENST00000645730.1:c.129C>A
ENST00000646082.1:c.517-965C>A
ENST00000646571.1:c.686C>A	ENSP00000495015.1:p.Ser229Ter
ENST00000647007.1:n.474C>A
ENST00000647133.1:c.357C>A
ENST00000315285.7:c.782C>A	ENSP00000320885.3:p.Ser261Ter
ENST00000345662.5:c.686C>A	ENSP00000340817.1:p.Ser229Ter
ENST00000615843.4:c.782C>A	ENSP00000480893.1:p.Ser261Ter
ENST00000621856.1:c.524C>A	ENSP00000482496.1:p.Ser175Ter
NM_014946.3:c.782C>A , LRG_714t1:c.782C>A	NP_055761.2:p.Ser261Ter
NM_199436.1:c.686C>A	NP_955468.1:p.Ser229Ter
XM_005264516.3:c.779C>A	XP_005264573.1:p.Ser260Ter
XM_011533067.1:c.782C>A	XP_011531369.1:p.Ser261Ter
NM_001363823.1:c.779C>A	NP_001350752.1:p.Ser260Ter
NM_001363875.1:c.683C>A	NP_001350804.1:p.Ser228Ter
XM_005264516.5:c.779C>A	XP_005264573.1:p.Ser260Ter
XM_011533067.2:c.782C>A	XP_011531369.1:p.Ser261Ter
XM_017004778.2:c.686C>A	XP_016860267.1:p.Ser229Ter
NM_001363823.2:c.779C>A	NP_001350752.1:p.Ser260Ter
NM_001363875.2:c.683C>A	NP_001350804.1:p.Ser228Ter
NM_001377959.1:c.686C>A	NP_001364888.1:p.Ser229Ter
NM_014946.4:c.782C>A MANE Select	NP_055761.2:p.Ser261Ter
NM_199436.2:c.686C>A	NP_955468.1:p.Ser229Ter