Canonical Allele Identifier: CA253553
Gene: SPAST HGNC NCBI

Linked Data

ClinVar Variation Id: 5661
dbSNP Id: rs587777752

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32147216A>G , CM000664.2:g.32147216A>G GRCh38
NC_000002.11:g.32372285A>G , CM000664.1:g.32372285A>G GRCh37
NC_000002.10:g.32225789A>G NCBI36
NG_008730.1:g.88606A>G , LRG_714:g.88606A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.*1348-2A>G ENSP00000515816.1:n.*1348-2A>G
ENST00000315285.9:c.1688-2A>G MANE Select ENSP00000320885.3:n.1688-2A>G
ENST00000621856.2:c.1685-2A>G ENSP00000482496.2:n.1685-2A>G
ENST00000642281.1:c.1425-2A>G
ENST00000642455.1:c.1589-2A>G ENSP00000493827.1:n.1589-2A>G
ENST00000642751.1:c.1391-2A>G
ENST00000642999.1:c.1430-2A>G ENSP00000496589.1:n.1430-2A>G
ENST00000643334.1:c.1268-2A>G
ENST00000644408.1:c.1585A>G
ENST00000644954.1:c.1334-2A>G ENSP00000494312.1:n.1334-2A>G
ENST00000645159.1:n.2425-2A>G
ENST00000645671.1:c.1067-2A>G
ENST00000645730.1:c.867-2A>G
ENST00000646082.1:c.1334-2A>G
ENST00000646571.1:c.1592-2A>G ENSP00000495015.1:n.1592-2A>G
ENST00000647007.1:n.1380-2A>G
ENST00000647133.1:c.1188-2A>G
ENST00000315285.7:c.1688-2A>G ENSP00000320885.3:n.1688-2A>G
ENST00000345662.5:c.1592-2A>G ENSP00000340817.1:n.1592-2A>G
ENST00000615843.4:c.1688-2A>G ENSP00000480893.1:n.1688-2A>G
ENST00000621856.1:c.1430-2A>G ENSP00000482496.1:n.1430-2A>G
NM_014946.3:c.1688-2A>G , LRG_714t1:c.1688-2A>G NP_055761.2:n.1688-2A>G
NM_199436.1:c.1592-2A>G NP_955468.1:n.1592-2A>G
XM_005264516.3:c.1685-2A>G XP_005264573.1:n.1685-2A>G
XM_011533067.1:c.1617-2A>G XP_011531369.1:n.1617-2A>G
NM_001363823.1:c.1685-2A>G NP_001350752.1:n.1685-2A>G
NM_001363875.1:c.1589-2A>G NP_001350804.1:n.1589-2A>G
XM_005264516.5:c.1685-2A>G XP_005264573.1:n.1685-2A>G
XM_011533067.2:c.1617-2A>G XP_011531369.1:n.1617-2A>G
XM_017004778.2:c.1521-2A>G XP_016860267.1:n.1521-2A>G
NM_001363823.2:c.1685-2A>G NP_001350752.1:n.1685-2A>G
NM_001363875.2:c.1589-2A>G NP_001350804.1:n.1589-2A>G
NM_001377959.1:c.1521-2A>G NP_001364888.1:n.1521-2A>G
NM_014946.4:c.1688-2A>G MANE Select NP_055761.2:n.1688-2A>G
NM_199436.2:c.1592-2A>G NP_955468.1:n.1592-2A>G