Canonical Allele Identifier: CA16617531

Gene: SPAST

Linked Data

• ClinVar Variation Id: 419590
• ClinVar RCV Id: RCV000480764 ; RCV000794493
• dbSNP Id: rs1064793976
• MyVariant Identifiers: chr2:g.32379442G>A (hg19) ; chr2:g.32154373G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32154373G>A , CM000664.2:g.32154373G>A	GRCh38
NC_000002.11:g.32379442G>A , CM000664.1:g.32379442G>A	GRCh37
NC_000002.10:g.32232946G>A	NCBI36
NG_008730.1:g.95763G>A , LRG_714:g.95763G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1389-1G>A	ENSP00000515816.1:n.*1389-1G>A
ENST00000315285.9:c.1729-1G>A MANE Select	ENSP00000320885.3:n.1729-1G>A
ENST00000621856.2:c.1726-1G>A	ENSP00000482496.2:n.1726-1G>A
ENST00000642281.1:c.1466-1G>A
ENST00000642455.1:c.1630-1G>A	ENSP00000493827.1:n.1630-1G>A
ENST00000642751.1:c.1432-1G>A
ENST00000642999.1:c.1471-1G>A	ENSP00000496589.1:n.1471-1G>A
ENST00000643334.1:c.1309-1G>A
ENST00000644408.1:c.1628-1G>A
ENST00000644954.1:c.1375-1G>A	ENSP00000494312.1:n.1375-1G>A
ENST00000645159.1:n.2466-1G>A
ENST00000645671.1:c.1108-1G>A
ENST00000645730.1:c.908-1G>A
ENST00000646082.1:c.1375-1G>A
ENST00000646571.1:c.1633-1G>A	ENSP00000495015.1:n.1633-1G>A
ENST00000647007.1:n.1421-1G>A
ENST00000647133.1:c.1229-1G>A
ENST00000315285.7:c.1729-1G>A	ENSP00000320885.3:n.1729-1G>A
ENST00000345662.5:c.1633-1G>A	ENSP00000340817.1:n.1633-1G>A
ENST00000615843.4:c.1729-1G>A	ENSP00000480893.1:n.1729-1G>A
ENST00000621856.1:c.1471-1G>A	ENSP00000482496.1:n.1471-1G>A
NM_014946.3:c.1729-1G>A , LRG_714t1:c.1729-1G>A	NP_055761.2:n.1729-1G>A
NM_199436.1:c.1633-1G>A	NP_955468.1:n.1633-1G>A
XM_005264516.3:c.1726-1G>A	XP_005264573.1:n.1726-1G>A
XM_011533067.1:c.*2-1G>A	XP_011531369.1:n.*2-1G>A
NM_001363823.1:c.1726-1G>A	NP_001350752.1:n.1726-1G>A
NM_001363875.1:c.1630-1G>A	NP_001350804.1:n.1630-1G>A
XM_005264516.5:c.1726-1G>A	XP_005264573.1:n.1726-1G>A
XM_011533067.2:c.*2-1G>A	XP_011531369.1:n.*2-1G>A
XM_017004778.2:c.*2-1G>A	XP_016860267.1:n.*2-1G>A
NM_001363823.2:c.1726-1G>A	NP_001350752.1:n.1726-1G>A
NM_001363875.2:c.1630-1G>A	NP_001350804.1:n.1630-1G>A
NM_001377959.1:c.*2-1G>A	NP_001364888.1:n.*2-1G>A
NM_014946.4:c.1729-1G>A MANE Select	NP_055761.2:n.1729-1G>A
NM_199436.2:c.1633-1G>A	NP_955468.1:n.1633-1G>A