Canonical Allele Identifier: CA253558

Gene: SPAST

Linked Data

• ClinVar Variation Id: 5666
• ClinVar RCV Id: RCV000006020 ; RCV003225018
• dbSNP Id: rs587777755
• MyVariant Identifiers: chr2:g.32353552A>G (hg19) ; chr2:g.32128483A>G (hg38)
• PubMed: PMID:11309678

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128483A>G , CM000664.2:g.32128483A>G	GRCh38
NC_000002.11:g.32353552A>G , CM000664.1:g.32353552A>G	GRCh37
NC_000002.10:g.32207056A>G	NCBI36
NG_008730.1:g.69873A>G , LRG_714:g.69873A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*905+4A>G	ENSP00000515816.1:n.*905+4A>G
ENST00000315285.9:c.1245+4A>G MANE Select	ENSP00000320885.3:n.1245+4A>G
ENST00000621856.2:c.1242+4A>G	ENSP00000482496.2:n.1242+4A>G
ENST00000642281.1:c.983-8080A>G
ENST00000642455.1:c.1146+4A>G	ENSP00000493827.1:n.1146+4A>G
ENST00000642751.1:c.1019+4A>G
ENST00000642999.1:c.987+4A>G	ENSP00000496589.1:n.987+4A>G
ENST00000643327.1:c.404+4A>G
ENST00000643334.1:c.825+4A>G
ENST00000644408.1:c.1121+4A>G
ENST00000644954.1:c.891+4A>G	ENSP00000494312.1:n.891+4A>G
ENST00000645159.1:n.1982+4A>G
ENST00000645550.1:n.462A>G
ENST00000645671.1:c.695+4A>G
ENST00000645730.1:c.592+4A>G
ENST00000646082.1:c.891+4A>G
ENST00000646571.1:c.1149+4A>G	ENSP00000495015.1:n.1149+4A>G
ENST00000647007.1:n.937+4A>G
ENST00000647133.1:c.745+4A>G
ENST00000315285.7:c.1245+4A>G	ENSP00000320885.3:n.1245+4A>G
ENST00000345662.5:c.1149+4A>G	ENSP00000340817.1:n.1149+4A>G
ENST00000615843.4:c.1245+4A>G	ENSP00000480893.1:n.1245+4A>G
ENST00000621856.1:c.987+4A>G	ENSP00000482496.1:n.987+4A>G
NM_014946.3:c.1245+4A>G , LRG_714t1:c.1245+4A>G	NP_055761.2:n.1245+4A>G
NM_199436.1:c.1149+4A>G	NP_955468.1:n.1149+4A>G
XM_005264516.3:c.1242+4A>G	XP_005264573.1:n.1242+4A>G
XM_011533067.1:c.1245+4A>G	XP_011531369.1:n.1245+4A>G
NM_001363823.1:c.1242+4A>G	NP_001350752.1:n.1242+4A>G
NM_001363875.1:c.1146+4A>G	NP_001350804.1:n.1146+4A>G
XM_005264516.5:c.1242+4A>G	XP_005264573.1:n.1242+4A>G
XM_011533067.2:c.1245+4A>G	XP_011531369.1:n.1245+4A>G
XM_017004778.2:c.1149+4A>G	XP_016860267.1:n.1149+4A>G
NM_001363823.2:c.1242+4A>G	NP_001350752.1:n.1242+4A>G
NM_001363875.2:c.1146+4A>G	NP_001350804.1:n.1146+4A>G
NM_001377959.1:c.1149+4A>G	NP_001364888.1:n.1149+4A>G
NM_014946.4:c.1245+4A>G MANE Select	NP_055761.2:n.1245+4A>G
NM_199436.2:c.1149+4A>G	NP_955468.1:n.1149+4A>G