Canonical Allele Identifier: CA346601642
Gene: SPAST HGNC NCBI

Linked Data

ClinVar Variation Id: 2497977
ClinVar RCV Id: RCV003219043
dbSNP Id: rs757145918
gnomAD v2: 2-32289094-G-A
gnomAD v4: 2-32064025-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32064025G>A , CM000664.2:g.32064025G>A GRCh38
NC_000002.11:g.32289094G>A , CM000664.1:g.32289094G>A GRCh37
NC_000002.10:g.32142598G>A NCBI36
NG_008730.1:g.5415G>A , LRG_714:g.5415G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.194G>A ENSP00000515816.1:p.Arg65His
ENST00000315285.9:c.194G>A MANE Select ENSP00000320885.3:p.Arg65His
ENST00000621856.2:c.194G>A ENSP00000482496.2:p.Arg65His
ENST00000642281.1:c.78G>A
ENST00000642455.1:c.194G>A ENSP00000493827.1:p.Arg65His
ENST00000642751.1:c.64G>A
ENST00000642999.1:c.-65G>A ENSP00000496589.1:n.-65G>A
ENST00000644408.1:c.70G>A
ENST00000644954.1:c.-65G>A ENSP00000494312.1:n.-65G>A
ENST00000645400.1:c.35G>A ENSP00000496306.1:p.Arg12His
ENST00000646082.1:c.28G>A
ENST00000646571.1:c.194G>A ENSP00000495015.1:p.Arg65His
ENST00000315285.7:c.194G>A ENSP00000320885.3:p.Arg65His
ENST00000345662.5:c.194G>A ENSP00000340817.1:p.Arg65His
ENST00000615843.4:c.194G>A ENSP00000480893.1:p.Arg65His
ENST00000621856.1:c.-65G>A ENSP00000482496.1:n.-65G>A
NM_014946.3:c.194G>A , LRG_714t1:c.194G>A NP_055761.2:p.Arg65His
NM_199436.1:c.194G>A NP_955468.1:p.Arg65His
XM_005264516.3:c.194G>A XP_005264573.1:p.Arg65His
XM_011533067.1:c.194G>A XP_011531369.1:p.Arg65His
NM_001363823.1:c.194G>A NP_001350752.1:p.Arg65His
NM_001363875.1:c.194G>A NP_001350804.1:p.Arg65His
XM_005264516.5:c.194G>A XP_005264573.1:p.Arg65His
XM_011533067.2:c.194G>A XP_011531369.1:p.Arg65His
XM_017004778.2:c.194G>A XP_016860267.1:p.Arg65His
NM_001363823.2:c.194G>A NP_001350752.1:p.Arg65His
NM_001363875.2:c.194G>A NP_001350804.1:p.Arg65His
NM_001377959.1:c.194G>A NP_001364888.1:p.Arg65His
NM_014946.4:c.194G>A MANE Select NP_055761.2:p.Arg65His
NM_199436.2:c.194G>A NP_955468.1:p.Arg65His