Canonical Allele Identifier: CA1600500
Gene: SPAST HGNC NCBI

Linked Data

ClinVar Variation Id: 897739
ClinVar RCV Id: RCV001141201
dbSNP Id: rs778952334
gnomAD v2: 2-32289037-A-G
gnomAD v3: 2-32063968-A-G
gnomAD v4: 2-32063968-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32063968A>G , CM000664.2:g.32063968A>G GRCh38
NC_000002.11:g.32289037A>G , CM000664.1:g.32289037A>G GRCh37
NC_000002.10:g.32142541A>G NCBI36
NG_008730.1:g.5358A>G , LRG_714:g.5358A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.137A>G ENSP00000515816.1:p.His46Arg
ENST00000315285.9:c.137A>G MANE Select ENSP00000320885.3:p.His46Arg
ENST00000621856.2:c.137A>G ENSP00000482496.2:p.His46Arg
ENST00000642281.1:c.21A>G
ENST00000642455.1:c.137A>G ENSP00000493827.1:p.His46Arg
ENST00000642751.1:c.7A>G
ENST00000642999.1:c.-122A>G ENSP00000496589.1:n.-122A>G
ENST00000644408.1:c.13A>G
ENST00000646571.1:c.137A>G ENSP00000495015.1:p.His46Arg
ENST00000315285.7:c.137A>G ENSP00000320885.3:p.His46Arg
ENST00000345662.5:c.137A>G ENSP00000340817.1:p.His46Arg
ENST00000615843.4:c.137A>G ENSP00000480893.1:p.His46Arg
ENST00000621856.1:c.-122A>G ENSP00000482496.1:n.-122A>G
NM_014946.3:c.137A>G , LRG_714t1:c.137A>G NP_055761.2:p.His46Arg
NM_199436.1:c.137A>G NP_955468.1:p.His46Arg
XM_005264516.3:c.137A>G XP_005264573.1:p.His46Arg
XM_011533067.1:c.137A>G XP_011531369.1:p.His46Arg
NM_001363823.1:c.137A>G NP_001350752.1:p.His46Arg
NM_001363875.1:c.137A>G NP_001350804.1:p.His46Arg
XM_005264516.5:c.137A>G XP_005264573.1:p.His46Arg
XM_011533067.2:c.137A>G XP_011531369.1:p.His46Arg
XM_017004778.2:c.137A>G XP_016860267.1:p.His46Arg
NM_001363823.2:c.137A>G NP_001350752.1:p.His46Arg
NM_001363875.2:c.137A>G NP_001350804.1:p.His46Arg
NM_001377959.1:c.137A>G NP_001364888.1:p.His46Arg
NM_014946.4:c.137A>G MANE Select NP_055761.2:p.His46Arg
NM_199436.2:c.137A>G NP_955468.1:p.His46Arg