Canonical Allele Identifier: CA253562

Gene: SPAST

Linked Data

• ClinVar Variation Id: 5669
• ClinVar RCV Id: RCV000006023 ; RCV001847586
• dbSNP Id: rs121908514
• MyVariant Identifiers: chr2:g.32352075A>G (hg19) ; chr2:g.32127006A>G (hg38)
• PubMed: PMID:15210521

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32127006A>G , CM000664.2:g.32127006A>G	GRCh38
NC_000002.11:g.32352075A>G , CM000664.1:g.32352075A>G	GRCh37
NC_000002.10:g.32205579A>G	NCBI36
NG_008730.1:g.68396A>G , LRG_714:g.68396A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*817A>G	ENSP00000515816.1:n.*817A>G
ENST00000315285.9:c.1157A>G MANE Select	ENSP00000320885.3:p.Asn386Ser
ENST00000621856.2:c.1154A>G	ENSP00000482496.2:p.Asn385Ser
ENST00000642281.1:c.983-9557A>G
ENST00000642455.1:c.1058A>G	ENSP00000493827.1:p.Asn353Ser
ENST00000642751.1:c.931A>G
ENST00000642999.1:c.899A>G	ENSP00000496589.1:p.Asn300Ser
ENST00000643327.1:c.316A>G
ENST00000643334.1:c.737A>G
ENST00000644408.1:c.1033A>G
ENST00000644954.1:c.803A>G	ENSP00000494312.1:p.Asn268Ser
ENST00000645159.1:n.509A>G
ENST00000645550.1:n.370A>G
ENST00000645671.1:c.607A>G
ENST00000645730.1:c.504A>G
ENST00000646082.1:c.803A>G
ENST00000646571.1:c.1061A>G	ENSP00000495015.1:p.Asn354Ser
ENST00000647007.1:n.849A>G
ENST00000647133.1:c.674-1402A>G
ENST00000315285.7:c.1157A>G	ENSP00000320885.3:p.Asn386Ser
ENST00000345662.5:c.1061A>G	ENSP00000340817.1:p.Asn354Ser
ENST00000615843.4:c.1157A>G	ENSP00000480893.1:p.Asn386Ser
ENST00000621856.1:c.899A>G	ENSP00000482496.1:p.Asn300Ser
NM_014946.3:c.1157A>G , LRG_714t1:c.1157A>G	NP_055761.2:p.Asn386Ser
NM_199436.1:c.1061A>G	NP_955468.1:p.Asn354Ser
XM_005264516.3:c.1154A>G	XP_005264573.1:p.Asn385Ser
XM_011533067.1:c.1157A>G	XP_011531369.1:p.Asn386Ser
NM_001363823.1:c.1154A>G	NP_001350752.1:p.Asn385Ser
NM_001363875.1:c.1058A>G	NP_001350804.1:p.Asn353Ser
XM_005264516.5:c.1154A>G	XP_005264573.1:p.Asn385Ser
XM_011533067.2:c.1157A>G	XP_011531369.1:p.Asn386Ser
XM_017004778.2:c.1061A>G	XP_016860267.1:p.Asn354Ser
NM_001363823.2:c.1154A>G	NP_001350752.1:p.Asn385Ser
NM_001363875.2:c.1058A>G	NP_001350804.1:p.Asn353Ser
NM_001377959.1:c.1061A>G	NP_001364888.1:p.Asn354Ser
NM_014946.4:c.1157A>G MANE Select	NP_055761.2:p.Asn386Ser
NM_199436.2:c.1061A>G	NP_955468.1:p.Asn354Ser