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 |
|---|---|---|---|---|---|
| X | g.78117379T>A | CA413721212 | PGK1 | c.485T>A (p.Val162Asp) c.401T>A (p.Val134Asp) n.477T>A | |
| X | g.78117379T>C | CA413721214 | PGK1 | c.485T>C (p.Val162Ala) c.401T>C (p.Val134Ala) n.477T>C | gnomAD v4 |
| X | g.78117379T>G | CA413721216 | PGK1 | c.485T>G (p.Val162Gly) c.401T>G (p.Val134Gly) n.477T>G | |
| X | g.78117380C>A | CA517379812 | PGK1 | c.486C>A (p.Val162=) c.402C>A (p.Val134=) n.478C>A | |
| X | g.78117380C= | CA2439138335 | PGK1 | c.486C= (p.Val162=) c.402C= (p.Val134=) n.478C= | |
| X | g.78117380C>G | CA331585831 | PGK1 | c.486C>G (p.Val162=) c.402C>G (p.Val134=) n.478C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.78117380C>T | CA517379815 | PGK1 | c.486C>T (p.Val162=) c.402C>T (p.Val134=) n.478C>T | COSMIC |
| X | g.78117381A= | CA2439138336 | PGK1 | c.487A= (p.Asn163=) c.403A= (p.Asn135=) n.479A= | |
| X | g.78117381A>C | CA413721219 | PGK1 | c.487A>C (p.Asn163His) c.403A>C (p.Asn135His) n.479A>C | |
| X | g.78117381A>G | CA413721221 | PGK1 | c.487A>G (p.Asn163Asp) c.403A>G (p.Asn135Asp) n.479A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.78117381A>T | CA413721223 | PGK1 | c.487A>T (p.Asn163Tyr) c.403A>T (p.Asn135Tyr) n.479A>T | |
| X | g.78117382A= | CA2439138337 | PGK1 | c.488A= (p.Asn163=) c.404A= (p.Asn135=) n.480A= | |
| X | g.78117382A>C | CA413721225 | PGK1 | c.488A>C (p.Asn163Thr) c.404A>C (p.Asn135Thr) n.480A>C | |
| X | g.78117382A>G | CA10459712 | PGK1 | c.488A>G (p.Asn163Ser) c.404A>G (p.Asn135Ser) n.480A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.78117382A>T | CA413721228 | PGK1 | c.488A>T (p.Asn163Ile) c.404A>T (p.Asn135Ile) n.480A>T | |
| X | g.78117383T>A | CA413721230 | PGK1 | c.489T>A (p.Asn163Lys) c.405T>A (p.Asn135Lys) n.481T>A | |
| X | g.78117383T>C | CA517379820 | PGK1 | c.489T>C (p.Asn163=) c.405T>C (p.Asn135=) n.481T>C | |
| X | g.78117383T>G | CA413721232 | PGK1 | c.489T>G (p.Asn163Lys) c.405T>G (p.Asn135Lys) n.481T>G | |
| X | g.78117384G>A | CA413721234 | PGK1 | c.490G>A (p.Asp164Asn) c.406G>A (p.Asp136Asn) n.482G>A | |
| X | g.78117384G>C | CA413721236 | PGK1 | c.490G>C (p.Asp164His) c.406G>C (p.Asp136His) n.482G>C | |
| X | g.78117384G>T | CA413721238 | PGK1 | c.490G>T (p.Asp164Tyr) c.406G>T (p.Asp136Tyr) n.482G>T | |
| X | g.78117385A= | CA2439138338 | PGK1 | c.491A= (p.Asp164=) c.407A= (p.Asp136=) n.483A= | |
| X | g.78117385A>C | CA413721240 | PGK1 | c.491A>C (p.Asp164Ala) c.407A>C (p.Asp136Ala) n.483A>C | |
| X | g.78117385A>G | CA413721242 | PGK1 | c.491A>G (p.Asp164Gly) c.407A>G (p.Asp136Gly) n.483A>G | |
| X | g.78117385A>T | CA120836 | PGK1 | c.491A>T (p.Asp164Val) c.407A>T (p.Asp136Val) n.483A>T | ClinVar dbSNP |
| X | g.78117386T>A | CA413721244 | PGK1 | c.492T>A (p.Asp164Glu) c.408T>A (p.Asp136Glu) n.484T>A | gnomAD v4 |
| X | g.78117386T>C | CA517379824 | PGK1 | c.492T>C (p.Asp164=) c.408T>C (p.Asp136=) n.484T>C | |
| X | g.78117386T>G | CA413721246 | PGK1 | c.492T>G (p.Asp164Glu) c.408T>G (p.Asp136Glu) n.484T>G | |
| X | g.78117387G>A | CA413721248 | PGK1 | c.493G>A (p.Ala165Thr) c.409G>A (p.Ala137Thr) n.485G>A | gnomAD v4 |
| X | g.78117387G>C | CA413721250 | PGK1 | c.493G>C (p.Ala165Pro) c.409G>C (p.Ala137Pro) n.485G>C | |
| X | g.78117387G>T | CA413721252 | PGK1 | c.493G>T (p.Ala165Ser) c.409G>T (p.Ala137Ser) n.485G>T | |
| X | g.78117388C>A | CA413721256 | PGK1 | c.494C>A (p.Ala165Asp) c.410C>A (p.Ala137Asp) n.486C>A | gnomAD v4 |
| X | g.78117388C>G | CA413721258 | PGK1 | c.494C>G (p.Ala165Gly) c.410C>G (p.Ala137Gly) n.486C>G | |
| X | g.78117388C>T | CA413721254 | PGK1 | c.494C>T (p.Ala165Val) c.410C>T (p.Ala137Val) n.486C>T | |
| X | g.78117389T>A | CA517379826 | PGK1 | c.495T>A (p.Ala165=) c.411T>A (p.Ala137=) n.487T>A | |
| X | g.78117389T>C | CA517379830 | PGK1 | c.495T>C (p.Ala165=) c.411T>C (p.Ala137=) n.487T>C | |
| X | g.78117389T>G | CA517379828 | PGK1 | c.495T>G (p.Ala165=) c.411T>G (p.Ala137=) n.487T>G | |
| X | g.78117392del | CA2579650736 | PGK1 | c.498del (p.Phe166LeufsTer12) c.414del (p.Phe138LeufsTer12) n.490del | gnomAD v4 |
| X | g.78117390T>A | CA413721260 | PGK1 | c.496T>A (p.Phe166Ile) c.412T>A (p.Phe138Ile) n.488T>A | |
| X | g.78117390T>C | CA413721261 | PGK1 | c.496T>C (p.Phe166Leu) c.412T>C (p.Phe138Leu) n.488T>C | |
| X | g.78117390T>G | CA413721263 | PGK1 | c.496T>G (p.Phe166Val) c.412T>G (p.Phe138Val) n.488T>G | |
| X | g.78117391T>A | CA413721265 | PGK1 | c.497T>A (p.Phe166Tyr) c.413T>A (p.Phe138Tyr) n.489T>A | |
| X | g.78117391T>C | CA413721266 | PGK1 | c.497T>C (p.Phe166Ser) c.413T>C (p.Phe138Ser) n.489T>C | |
| X | g.78117391T>G | CA413721268 | PGK1 | c.497T>G (p.Phe166Cys) c.413T>G (p.Phe138Cys) n.489T>G | |
| X | g.78117392T>A | CA413721272 | PGK1 | c.498T>A (p.Phe166Leu) c.414T>A (p.Phe138Leu) n.490T>A | |
| X | g.78117392T>C | CA517379835 | PGK1 | c.498T>C (p.Phe166=) c.414T>C (p.Phe138=) n.490T>C | |
| X | g.78117392T>G | CA413721270 | PGK1 | c.498T>G (p.Phe166Leu) c.414T>G (p.Phe138Leu) n.490T>G | |
| X | g.78117393G>A | CA413721274 | PGK1 | c.499G>A (p.Gly167Ser) c.415G>A (p.Gly139Ser) n.491G>A | |
| X | g.78117393G>C | CA413721276 | PGK1 | c.499G>C (p.Gly167Arg) c.415G>C (p.Gly139Arg) n.491G>C | |
| X | g.78117393G>T | CA413721278 | PGK1 | c.499G>T (p.Gly167Cys) c.415G>T (p.Gly139Cys) n.491G>T |