Canonical Allele Identifier: CA16610830
Gene: SPAST HGNC NCBI

Linked Data

ClinVar Variation Id: 409031
dbSNP Id: rs1060502227
COSMIC: COSM721233

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32136593C>G , CM000664.2:g.32136593C>G GRCh38
NC_000002.11:g.32361662C>G , CM000664.1:g.32361662C>G GRCh37
NC_000002.10:g.32215166C>G NCBI36
NG_008730.1:g.77983C>G , LRG_714:g.77983C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.*936C>G ENSP00000515816.1:n.*936C>G
ENST00000315285.9:c.1276C>G MANE Select ENSP00000320885.3:p.Leu426Val
ENST00000621856.2:c.1273C>G ENSP00000482496.2:p.Leu425Val
ENST00000642281.1:c.1013C>G
ENST00000642455.1:c.1177C>G ENSP00000493827.1:p.Leu393Val
ENST00000642751.1:c.1050C>G
ENST00000642999.1:c.1018C>G ENSP00000496589.1:p.Leu340Val
ENST00000643327.1:c.435C>G
ENST00000643334.1:c.856C>G
ENST00000644408.1:c.1152C>G
ENST00000644954.1:c.922C>G ENSP00000494312.1:p.Leu308Val
ENST00000645159.1:n.2013C>G
ENST00000645671.1:c.726C>G
ENST00000645730.1:c.593-516C>G
ENST00000646082.1:c.922C>G
ENST00000646571.1:c.1180C>G ENSP00000495015.1:p.Leu394Val
ENST00000647007.1:n.968C>G
ENST00000647133.1:c.776C>G
ENST00000315285.7:c.1276C>G ENSP00000320885.3:p.Leu426Val
ENST00000345662.5:c.1180C>G ENSP00000340817.1:p.Leu394Val
ENST00000615843.4:c.1276C>G ENSP00000480893.1:p.Leu426Val
ENST00000621856.1:c.1018C>G ENSP00000482496.1:p.Leu340Val
NM_014946.3:c.1276C>G , LRG_714t1:c.1276C>G NP_055761.2:p.Leu426Val
NM_199436.1:c.1180C>G NP_955468.1:p.Leu394Val
XM_005264516.3:c.1273C>G XP_005264573.1:p.Leu425Val
XM_011533067.1:c.1276C>G XP_011531369.1:p.Leu426Val
NM_001363823.1:c.1273C>G NP_001350752.1:p.Leu425Val
NM_001363875.1:c.1177C>G NP_001350804.1:p.Leu393Val
XM_005264516.5:c.1273C>G XP_005264573.1:p.Leu425Val
XM_011533067.2:c.1276C>G XP_011531369.1:p.Leu426Val
XM_017004778.2:c.1180C>G XP_016860267.1:p.Leu394Val
NM_001363823.2:c.1273C>G NP_001350752.1:p.Leu425Val
NM_001363875.2:c.1177C>G NP_001350804.1:p.Leu393Val
NM_001377959.1:c.1180C>G NP_001364888.1:p.Leu394Val
NM_014946.4:c.1276C>G MANE Select NP_055761.2:p.Leu426Val
NM_199436.2:c.1180C>G NP_955468.1:p.Leu394Val