UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.49185823T>A | CA384641847 | TUBA1A | c.543A>T (p.Val181=) c.438A>T (p.Val146=) n.1576A>T c.566A>T (p.Ter189Leu) c.695A>T (p.Ter232Leu) | |
| 12 | g.49185823T>C | CA236622617 | TUBA1A | c.543A>G (p.Val181=) c.438A>G (p.Val146=) n.1576A>G c.566A>G (p.Ter189Trp) c.695A>G (p.Ter232Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49185823T>G | CA6550241 | TUBA1A | c.543A>C (p.Val181=) c.438A>C (p.Val146=) n.1576A>C c.566A>C (p.Ter189Ser) c.695A>C (p.Ter232Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49185823T= | CA2035023055 | TUBA1A | c.543A= (p.Val181=) c.438A= (p.Val146=) n.1576A= c.566A= (p.Ter189=) c.695A= (p.Ter232=) | |
| 12 | g.49185824A>C | CA384641850 | TUBA1A | c.542T>G (p.Val181Gly) c.437T>G (p.Val146Gly) n.1575T>G c.565T>G (p.Ter189Glu) c.694T>G (p.Ter232Glu) | |
| 12 | g.49185824A>G | CA384641852 | TUBA1A | c.542T>C (p.Val181Ala) c.437T>C (p.Val146Ala) n.1575T>C c.565T>C (p.Ter189Gln) c.694T>C (p.Ter232Gln) | ClinVar |
| 12 | g.49185824A>T | CA384641855 | TUBA1A | c.542T>A (p.Val181Glu) c.437T>A (p.Val146Glu) n.1575T>A c.565T>A (p.Ter189Lys) c.694T>A (p.Ter232Lys) | |
| 12 | g.49185825C>A | CA384641858 | TUBA1A | c.541G>T (p.Val181Leu) c.436G>T (p.Val146Leu) n.1574G>T c.564G>T (p.Leu188=) c.693G>T (p.Leu231=) | |
| 12 | g.49185825C>G | CA384641861 | TUBA1A | c.541G>C (p.Val181Leu) c.436G>C (p.Val146Leu) n.1574G>C c.564G>C (p.Leu188=) c.693G>C (p.Leu231=) | |
| 12 | g.49185825C>T | CA384641862 | TUBA1A | c.541G>A (p.Val181Ile) c.436G>A (p.Val146Ile) n.1574G>A c.564G>A (p.Leu188=) c.693G>A (p.Leu231=) | ClinVar |
| 12 | g.49185826A>C | CA384641863 | TUBA1A | c.540T>G (p.Ala180=) c.435T>G (p.Ala145=) n.1573T>G c.563T>G (p.Leu188Arg) c.692T>G (p.Leu231Arg) | |
| 12 | g.49185826A>G | CA384641865 | TUBA1A | c.540T>C (p.Ala180=) c.435T>C (p.Ala145=) n.1573T>C c.563T>C (p.Leu188Pro) c.692T>C (p.Leu231Pro) | |
| 12 | g.49185826A>T | CA384641866 | TUBA1A | c.540T>A (p.Ala180=) c.435T>A (p.Ala145=) n.1573T>A c.563T>A (p.Leu188Gln) c.692T>A (p.Leu231Gln) | |
| 12 | g.49185827G>A | CA384641867 | TUBA1A | c.539C>T (p.Ala180Val) c.434C>T (p.Ala145Val) n.1572C>T c.562C>T (p.Leu188=) c.691C>T (p.Leu231=) | ClinVar dbSNP |
| 12 | g.49185827G>C | CA384641869 | TUBA1A | c.539C>G (p.Ala180Gly) c.434C>G (p.Ala145Gly) n.1572C>G c.562C>G (p.Leu188Val) c.691C>G (p.Leu231Val) | |
| 12 | g.49185827G>T | CA384641871 | TUBA1A | c.539C>A (p.Ala180Asp) c.434C>A (p.Ala145Asp) n.1572C>A c.562C>A (p.Leu188Met) c.691C>A (p.Leu231Met) | |
| 12 | g.49185828C>A | CA384641876 | TUBA1A | c.538G>T (p.Ala180Ser) c.433G>T (p.Ala145Ser) n.1571G>T c.561G>T (p.Gln187His) c.690G>T (p.Gln230His) | |
| 12 | g.49185828C>G | CA384641874 | TUBA1A | c.538G>C (p.Ala180Pro) c.433G>C (p.Ala145Pro) n.1571G>C c.561G>C (p.Gln187His) c.690G>C (p.Gln230His) | |
| 12 | g.49185828C>T | CA384641873 | TUBA1A | c.538G>A (p.Ala180Thr) c.433G>A (p.Ala145Thr) n.1571G>A c.561G>A (p.Gln187=) c.690G>A (p.Gln230=) | |
| 12 | g.49185829T>A | CA384641878 | TUBA1A | c.537A>T (p.Thr179=) c.432A>T (p.Thr144=) n.1570A>T c.560A>T (p.Gln187Leu) c.689A>T (p.Gln230Leu) | |
| 12 | g.49185829T>C | CA384641879 | TUBA1A | c.537A>G (p.Thr179=) c.432A>G (p.Thr144=) n.1570A>G c.560A>G (p.Gln187Arg) c.689A>G (p.Gln230Arg) | gnomAD v4 |
| 12 | g.49185829T>G | CA384641881 | TUBA1A | c.537A>C (p.Thr179=) c.432A>C (p.Thr144=) n.1570A>C c.560A>C (p.Gln187Pro) c.689A>C (p.Gln230Pro) | |
| 12 | g.49185830G>A | CA384641883 | TUBA1A | c.536C>T (p.Thr179Ile) c.431C>T (p.Thr144Ile) n.1569C>T c.559C>T (p.Gln187Ter) c.688C>T (p.Gln230Ter) | |
| 12 | g.49185830G>C | CA384641885 | TUBA1A | c.536C>G (p.Thr179Arg) c.431C>G (p.Thr144Arg) n.1569C>G c.559C>G (p.Gln187Glu) c.688C>G (p.Gln230Glu) | |
| 12 | g.49185830G>T | CA384641886 | TUBA1A | c.536C>A (p.Thr179Lys) c.431C>A (p.Thr144Lys) n.1569C>A c.559C>A (p.Gln187Lys) c.688C>A (p.Gln230Lys) | |
| 12 | g.49185831T>A | CA384641887 | TUBA1A | c.535A>T (p.Thr179Ser) c.430A>T (p.Thr144Ser) n.1568A>T c.558A>T (p.Pro186=) c.687A>T (p.Pro229=) | |
| 12 | g.49185831T>C | CA384641889 | TUBA1A | c.535A>G (p.Thr179Ala) c.430A>G (p.Thr144Ala) n.1568A>G c.558A>G (p.Pro186=) c.687A>G (p.Pro229=) | |
| 12 | g.49185831T>G | CA384641891 | TUBA1A | c.535A>C (p.Thr179Pro) c.430A>C (p.Thr144Pro) n.1568A>C c.558A>C (p.Pro186=) c.687A>C (p.Pro229=) | |
| 12 | g.49185832G>A | CA384641903 | TUBA1A | c.534C>T (p.Ser178=) c.429C>T (p.Ser143=) n.1567C>T c.557C>T (p.Pro186Leu) c.686C>T (p.Pro229Leu) | |
| 12 | g.49185832G>C | CA384641906 | TUBA1A | c.534C>G (p.Ser178=) c.429C>G (p.Ser143=) n.1567C>G c.557C>G (p.Pro186Arg) c.686C>G (p.Pro229Arg) | |
| 12 | g.49185832G>T | CA384641908 | TUBA1A | c.534C>A (p.Ser178=) c.429C>A (p.Ser143=) n.1567C>A c.557C>A (p.Pro186Gln) c.686C>A (p.Pro229Gln) | |
| 12 | g.49185833G>A | CA384641916 | TUBA1A | c.533C>T (p.Ser178Phe) c.428C>T (p.Ser143Phe) n.1566C>T c.556C>T (p.Pro186Ser) c.685C>T (p.Pro229Ser) | |
| 12 | g.49185833G>C | CA384641915 | TUBA1A | c.533C>G (p.Ser178Cys) c.428C>G (p.Ser143Cys) n.1566C>G c.556C>G (p.Pro186Ala) c.685C>G (p.Pro229Ala) | |
| 12 | g.49185833G>T | CA384641913 | TUBA1A | c.533C>A (p.Ser178Tyr) c.428C>A (p.Ser143Tyr) n.1566C>A c.556C>A (p.Pro186Thr) c.685C>A (p.Pro229Thr) | |
| 12 | g.49185834A>C | CA384641920 | TUBA1A | c.532T>G (p.Ser178Ala) c.427T>G (p.Ser143Ala) n.1565T>G c.555T>G (p.Phe185Leu) c.684T>G (p.Phe228Leu) | |
| 12 | g.49185834A>G | CA384641924 | TUBA1A | c.532T>C (p.Ser178Pro) c.427T>C (p.Ser143Pro) n.1565T>C c.555T>C (p.Phe185=) c.684T>C (p.Phe228=) | |
| 12 | g.49185834A>T | CA384641923 | TUBA1A | c.532T>A (p.Ser178Thr) c.427T>A (p.Ser143Thr) n.1565T>A c.555T>A (p.Phe185Leu) c.684T>A (p.Phe228Leu) | |
| 12 | g.49185835A>C | CA384641927 | TUBA1A | c.531T>G (p.Val177=) c.426T>G (p.Val142=) n.1564T>G c.554T>G (p.Phe185Cys) c.683T>G (p.Phe228Cys) | gnomAD v4 |
| 12 | g.49185835A>G | CA384641931 | TUBA1A | c.531T>C (p.Val177=) c.426T>C (p.Val142=) n.1564T>C c.554T>C (p.Phe185Ser) c.683T>C (p.Phe228Ser) | |
| 12 | g.49185835A>T | CA384641928 | TUBA1A | c.531T>A (p.Val177=) c.426T>A (p.Val142=) n.1564T>A c.554T>A (p.Phe185Tyr) c.683T>A (p.Phe228Tyr) | |
| 12 | g.49185836A>C | CA384641932 | TUBA1A | c.530T>G (p.Val177Gly) c.425T>G (p.Val142Gly) n.1563T>G c.553T>G (p.Phe185Val) c.682T>G (p.Phe228Val) | |
| 12 | g.49185836A>G | CA384641934 | TUBA1A | c.530T>C (p.Val177Ala) c.425T>C (p.Val142Ala) n.1563T>C c.553T>C (p.Phe185Leu) c.682T>C (p.Phe228Leu) | |
| 12 | g.49185836A>T | CA384641937 | TUBA1A | c.530T>A (p.Val177Asp) c.425T>A (p.Val142Asp) n.1563T>A c.553T>A (p.Phe185Ile) c.682T>A (p.Phe228Ile) | |
| 12 | g.49185837C>A | CA384641939 | TUBA1A | c.529G>T (p.Val177Phe) c.424G>T (p.Val142Phe) n.1562G>T c.552G>T (p.Arg184Ser) c.681G>T (p.Arg227Ser) | |
| 12 | g.49185837C>G | CA384641942 | TUBA1A | c.529G>C (p.Val177Leu) c.424G>C (p.Val142Leu) n.1562G>C c.552G>C (p.Arg184Ser) c.681G>C (p.Arg227Ser) | |
| 12 | g.49185837C>T | CA384641945 | TUBA1A | c.529G>A (p.Val177Ile) c.424G>A (p.Val142Ile) n.1562G>A c.552G>A (p.Arg184=) c.681G>A (p.Arg227=) | |
| 12 | g.49185838C>A | CA384641948 | TUBA1A | c.528G>T (p.Gln176His) c.423G>T (p.Gln141His) n.1561G>T c.551G>T (p.Arg184Met) c.680G>T (p.Arg227Met) | ClinVar |
| 12 | g.49185838C>G | CA384641950 | TUBA1A | c.528G>C (p.Gln176His) c.423G>C (p.Gln141His) n.1561G>C c.551G>C (p.Arg184Thr) c.680G>C (p.Arg227Thr) | ClinVar |
| 12 | g.49185838C>T | CA384641952 | TUBA1A | c.528G>A (p.Gln176=) c.423G>A (p.Gln141=) n.1561G>A c.551G>A (p.Arg184Lys) c.680G>A (p.Arg227Lys) | gnomAD v4 |
| 12 | g.49185839T>A | CA384641956 | TUBA1A | c.527A>T (p.Gln176Leu) c.422A>T (p.Gln141Leu) n.1560A>T c.550A>T (p.Arg184Trp) c.679A>T (p.Arg227Trp) | ClinVar |