Canonical Allele Identifier: CA346501296
Gene: SPAST HGNC NCBI

Linked Data

ClinVar Variation Id: 989107
ClinVar RCV Id: RCV001391504
dbSNP Id: rs2148745001

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32126997C>G , CM000664.2:g.32126997C>G GRCh38
NC_000002.11:g.32352066C>G , CM000664.1:g.32352066C>G GRCh37
NC_000002.10:g.32205570C>G NCBI36
NG_008730.1:g.68387C>G , LRG_714:g.68387C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.*808C>G ENSP00000515816.1:n.*808C>G
ENST00000315285.9:c.1148C>G MANE Select ENSP00000320885.3:p.Pro383Arg
ENST00000621856.2:c.1145C>G ENSP00000482496.2:p.Pro382Arg
ENST00000642281.1:c.983-9566C>G
ENST00000642455.1:c.1049C>G ENSP00000493827.1:p.Pro350Arg
ENST00000642751.1:c.922C>G
ENST00000642999.1:c.890C>G ENSP00000496589.1:p.Pro297Arg
ENST00000643327.1:c.307C>G
ENST00000643334.1:c.728C>G
ENST00000644408.1:c.1024C>G
ENST00000644954.1:c.794C>G ENSP00000494312.1:p.Pro265Arg
ENST00000645159.1:n.500C>G
ENST00000645550.1:n.361C>G
ENST00000645671.1:c.598C>G
ENST00000645730.1:c.495C>G
ENST00000646082.1:c.794C>G
ENST00000646571.1:c.1052C>G ENSP00000495015.1:p.Pro351Arg
ENST00000647007.1:n.840C>G
ENST00000647133.1:c.674-1411C>G
ENST00000315285.7:c.1148C>G ENSP00000320885.3:p.Pro383Arg
ENST00000345662.5:c.1052C>G ENSP00000340817.1:p.Pro351Arg
ENST00000615843.4:c.1148C>G ENSP00000480893.1:p.Pro383Arg
ENST00000621856.1:c.890C>G ENSP00000482496.1:p.Pro297Arg
NM_014946.3:c.1148C>G , LRG_714t1:c.1148C>G NP_055761.2:p.Pro383Arg
NM_199436.1:c.1052C>G NP_955468.1:p.Pro351Arg
XM_005264516.3:c.1145C>G XP_005264573.1:p.Pro382Arg
XM_011533067.1:c.1148C>G XP_011531369.1:p.Pro383Arg
NM_001363823.1:c.1145C>G NP_001350752.1:p.Pro382Arg
NM_001363875.1:c.1049C>G NP_001350804.1:p.Pro350Arg
XM_005264516.5:c.1145C>G XP_005264573.1:p.Pro382Arg
XM_011533067.2:c.1148C>G XP_011531369.1:p.Pro383Arg
XM_017004778.2:c.1052C>G XP_016860267.1:p.Pro351Arg
NM_001363823.2:c.1145C>G NP_001350752.1:p.Pro382Arg
NM_001363875.2:c.1049C>G NP_001350804.1:p.Pro350Arg
NM_001377959.1:c.1052C>G NP_001364888.1:p.Pro351Arg
NM_014946.4:c.1148C>G MANE Select NP_055761.2:p.Pro383Arg
NM_199436.2:c.1052C>G NP_955468.1:p.Pro351Arg