Canonical Allele Identifier: CA346505640

Gene: SPAST

Linked Data

• ClinVar Variation Id: 493274
• ClinVar RCV Id: RCV000585458 ; RCV003233753
• dbSNP Id: rs145206063
• MyVariant Identifiers: chr2:g.32379499C>A (hg19) ; chr2:g.32154430C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32154430C>A , CM000664.2:g.32154430C>A	GRCh38
NC_000002.11:g.32379499C>A , CM000664.1:g.32379499C>A	GRCh37
NC_000002.10:g.32233003C>A	NCBI36
NG_008730.1:g.95820C>A , LRG_714:g.95820C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1445C>A	ENSP00000515816.1:n.*1445C>A
ENST00000315285.9:c.1785C>A MANE Select	ENSP00000320885.3:p.Ser595Arg
ENST00000621856.2:c.1782C>A	ENSP00000482496.2:p.Ser594Arg
ENST00000642281.1:c.1522C>A
ENST00000642455.1:c.1686C>A	ENSP00000493827.1:p.Ser562Arg
ENST00000642751.1:c.1488C>A
ENST00000642999.1:c.1527C>A	ENSP00000496589.1:p.Ser509Arg
ENST00000643334.1:c.1365C>A
ENST00000644408.1:c.1684C>A
ENST00000644954.1:c.1431C>A	ENSP00000494312.1:p.Ser477Arg
ENST00000645159.1:n.2522C>A
ENST00000645671.1:c.1164C>A
ENST00000645730.1:c.964C>A
ENST00000646082.1:c.1431C>A
ENST00000646571.1:c.1689C>A	ENSP00000495015.1:p.Ser563Arg
ENST00000647007.1:n.1477C>A
ENST00000647133.1:c.1285C>A
ENST00000315285.7:c.1785C>A	ENSP00000320885.3:p.Ser595Arg
ENST00000345662.5:c.1689C>A	ENSP00000340817.1:p.Ser563Arg
ENST00000615843.4:c.1785C>A	ENSP00000480893.1:p.Ser595Arg
ENST00000621856.1:c.1527C>A	ENSP00000482496.1:p.Ser509Arg
NM_014946.3:c.1785C>A , LRG_714t1:c.1785C>A	NP_055761.2:p.Ser595Arg
NM_199436.1:c.1689C>A	NP_955468.1:p.Ser563Arg
XM_005264516.3:c.1782C>A	XP_005264573.1:p.Ser594Arg
NM_001363823.1:c.1782C>A	NP_001350752.1:p.Ser594Arg
NM_001363875.1:c.1686C>A	NP_001350804.1:p.Ser562Arg
XM_005264516.5:c.1782C>A	XP_005264573.1:p.Ser594Arg
XM_011533067.2:c.*58C>A	XP_011531369.1:n.*58C>A
XM_017004778.2:c.*58C>A	XP_016860267.1:n.*58C>A
NM_001363823.2:c.1782C>A	NP_001350752.1:p.Ser594Arg
NM_001363875.2:c.1686C>A	NP_001350804.1:p.Ser562Arg
NM_001377959.1:c.*58C>A	NP_001364888.1:n.*58C>A
NM_014946.4:c.1785C>A MANE Select	NP_055761.2:p.Ser595Arg
NM_199436.2:c.1689C>A	NP_955468.1:p.Ser563Arg