Canonical Allele Identifier: CA253559
Gene: SPAST HGNC NCBI

Linked Data

ClinVar Variation Id: 5667
ClinVar RCV Id: RCV000006021 RCV001508982
dbSNP Id: rs587777756
MyVariant Identifiers: chr2:g.32362039dupT (hg19) chr2:g.32136970dupT (hg38)
PubMed: PMID:11704932
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32136970dup , CM000664.2:g.32136970dup GRCh38
NC_000002.11:g.32362039dup , CM000664.1:g.32362039dup GRCh37
NC_000002.10:g.32215543dup NCBI36
NG_008730.1:g.78360dup , LRG_714:g.78360dup

Transcript Alleles

HGVS Amino-acid change
ENST00000704289.1:c.*1073+2dup ENSP00000515816.1:n.*1073+2dup
ENST00000315285.9:c.1413+2dup MANE Select ENSP00000320885.3:n.1413+2dup
ENST00000621856.2:c.1410+2dup ENSP00000482496.2:n.1410+2dup
ENST00000642281.1:c.1150+2dup
ENST00000642455.1:c.1314+2dup ENSP00000493827.1:n.1314+2dup
ENST00000642751.1:c.1187+2dup
ENST00000642999.1:c.1155+2dup ENSP00000496589.1:n.1155+2dup
ENST00000643327.1:c.481-139dup
ENST00000643334.1:c.993+2dup
ENST00000644408.1:c.1289+2dup
ENST00000644954.1:c.1059+2dup ENSP00000494312.1:n.1059+2dup
ENST00000645159.1:n.2150+2dup
ENST00000645671.1:c.863+2dup
ENST00000645730.1:c.593-139dup
ENST00000646082.1:c.1059+2dup
ENST00000646571.1:c.1317+2dup ENSP00000495015.1:n.1317+2dup
ENST00000647007.1:n.1105+2dup
ENST00000647133.1:c.913+2dup
ENST00000315285.7:c.1413+2dup ENSP00000320885.3:n.1413+2dup
ENST00000345662.5:c.1317+2dup ENSP00000340817.1:n.1317+2dup
ENST00000615843.4:c.1413+2dup ENSP00000480893.1:n.1413+2dup
ENST00000621856.1:c.1155+2dup ENSP00000482496.1:n.1155+2dup
NM_014946.3:c.1413+2dup , LRG_714t1:c.1413+2dup NP_055761.2:n.1413+2dup
NM_199436.1:c.1317+2dup NP_955468.1:n.1317+2dup
XM_005264516.3:c.1410+2dup XP_005264573.1:n.1410+2dup
XM_011533067.1:c.1413+2dup XP_011531369.1:n.1413+2dup
NM_001363823.1:c.1410+2dup NP_001350752.1:n.1410+2dup
NM_001363875.1:c.1314+2dup NP_001350804.1:n.1314+2dup
XM_005264516.5:c.1410+2dup XP_005264573.1:n.1410+2dup
XM_011533067.2:c.1413+2dup XP_011531369.1:n.1413+2dup
XM_017004778.2:c.1317+2dup XP_016860267.1:n.1317+2dup
NM_001363823.2:c.1410+2dup NP_001350752.1:n.1410+2dup
NM_001363875.2:c.1314+2dup NP_001350804.1:n.1314+2dup
NM_001377959.1:c.1317+2dup NP_001364888.1:n.1317+2dup
NM_014946.4:c.1413+2dup MANE Select NP_055761.2:n.1413+2dup
NM_199436.2:c.1317+2dup NP_955468.1:n.1317+2dup
Search 100 bp 5'
Search 100 bp 3'