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 |
|---|---|---|---|---|---|
| 9 | g.130471492G>A | CA200617909 | ASS1 | c.574G>A (p.Ala192Thr) c.517G>A (p.Ala173Thr) n.283G>A n.405G>A c.688G>A (p.Ala230Thr) c.670G>A (p.Ala224Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.130471492G>C | CA375227467 | ASS1 | c.574G>C (p.Ala192Pro) c.517G>C (p.Ala173Pro) n.283G>C n.405G>C c.688G>C (p.Ala230Pro) c.670G>C (p.Ala224Pro) | |
| 9 | g.130471492G= | CA1881256251 | ASS1 | c.574G= (p.Ala192=) c.517G= (p.Ala173=) n.283G= n.405G= c.688G= (p.Ala230=) c.670G= (p.Ala224=) | |
| 9 | g.130471492G>T | CA375227469 | ASS1 | c.574G>T (p.Ala192Ser) c.517G>T (p.Ala173Ser) n.283G>T n.405G>T c.688G>T (p.Ala230Ser) c.670G>T (p.Ala224Ser) | gnomAD v4 |
| 9 | g.130471493C>A | CA375227472 | ASS1 | c.575C>A (p.Ala192Asp) c.518C>A (p.Ala173Asp) n.284C>A n.406C>A c.689C>A (p.Ala230Asp) c.671C>A (p.Ala224Asp) | |
| 9 | g.130471493C= | CA1881256255 | ASS1 | c.575C= (p.Ala192=) c.518C= (p.Ala173=) n.284C= n.406C= c.689C= (p.Ala230=) c.671C= (p.Ala224=) | |
| 9 | g.130471493C>G | CA375227474 | ASS1 | c.575C>G (p.Ala192Gly) c.518C>G (p.Ala173Gly) n.284C>G n.406C>G c.689C>G (p.Ala230Gly) c.671C>G (p.Ala224Gly) | |
| 9 | g.130471493C>T | CA375227476 | ASS1 | c.575C>T (p.Ala192Val) c.518C>T (p.Ala173Val) n.284C>T n.406C>T c.689C>T (p.Ala230Val) c.671C>T (p.Ala224Val) | dbSNP |
| 9 | g.130471494T>A | CA467389242 | ASS1 | c.576T>A (p.Ala192=) c.519T>A (p.Ala173=) n.285T>A n.407T>A c.690T>A (p.Ala230=) c.672T>A (p.Ala224=) | |
| 9 | g.130471494T>C | CA5283371 | ASS1 | c.576T>C (p.Ala192=) c.519T>C (p.Ala173=) n.285T>C n.407T>C c.690T>C (p.Ala230=) c.672T>C (p.Ala224=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.130471494T>G | CA5283372 | ASS1 | c.576T>G (p.Ala192=) c.519T>G (p.Ala173=) n.285T>G n.407T>G c.690T>G (p.Ala230=) c.672T>G (p.Ala224=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.130471494T= | CA1881256258 | ASS1 | c.576T= (p.Ala192=) c.519T= (p.Ala173=) n.285T= n.407T= c.690T= (p.Ala230=) c.672T= (p.Ala224=) | |
| 9 | g.130471495G>A | CA375227479 | ASS1 | c.577G>A (p.Gly193Arg) c.520G>A (p.Gly174Arg) n.286G>A n.408G>A c.691G>A (p.Gly231Arg) c.673G>A (p.Gly225Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.130471495G>C | CA375227481 | ASS1 | c.577G>C (p.Gly193Arg) c.520G>C (p.Gly174Arg) n.286G>C n.408G>C c.691G>C (p.Gly231Arg) c.673G>C (p.Gly225Arg) | |
| 9 | g.130471495G= | CA1881256264 | ASS1 | c.577G= (p.Gly193=) c.520G= (p.Gly174=) n.286G= n.408G= c.691G= (p.Gly231=) c.673G= (p.Gly225=) | |
| 9 | g.130471495G>T | CA375227482 | ASS1 | c.577G>T (p.Gly193Ter) c.520G>T (p.Gly174Ter) n.286G>T n.408G>T c.691G>T (p.Gly231Ter) c.673G>T (p.Gly225Ter) | |
| 9 | g.130471496G>A | CA375227488 | ASS1 | c.578G>A (p.Gly193Glu) c.521G>A (p.Gly174Glu) n.287G>A n.409G>A c.692G>A (p.Gly231Glu) c.674G>A (p.Gly225Glu) | |
| 9 | g.130471496G>C | CA375227485 | ASS1 | c.578G>C (p.Gly193Ala) c.521G>C (p.Gly174Ala) n.287G>C n.409G>C c.692G>C (p.Gly231Ala) c.674G>C (p.Gly225Ala) | ClinVar dbSNP gnomAD v4 |
| 9 | g.130471496G>T | CA375227486 | ASS1 | c.578G>T (p.Gly193Val) c.521G>T (p.Gly174Val) n.287G>T n.409G>T c.692G>T (p.Gly231Val) c.674G>T (p.Gly225Val) | |
| 9 | g.130471497A>C | CA467389246 | ASS1 | c.579A>C (p.Gly193=) c.522A>C (p.Gly174=) n.288A>C n.410A>C c.693A>C (p.Gly231=) c.675A>C (p.Gly225=) | |
| 9 | g.130471497A>G | CA467389247 | ASS1 | c.579A>G (p.Gly193=) c.522A>G (p.Gly174=) n.288A>G n.410A>G c.693A>G (p.Gly231=) c.675A>G (p.Gly225=) | ClinVar gnomAD v4 |
| 9 | g.130471497A>T | CA467389248 | ASS1 | c.579A>T (p.Gly193=) c.522A>T (p.Gly174=) n.288A>T n.410A>T c.693A>T (p.Gly231=) c.675A>T (p.Gly225=) | gnomAD v4 |
| 9 | g.130471498A= | CA1881256268 | ASS1 | c.580A= (p.Ile194=) c.523A= (p.Ile175=) n.289A= n.411A= c.694A= (p.Ile232=) c.676A= (p.Ile226=) | |
| 9 | g.130471498A>C | CA375227490 | ASS1 | c.580A>C (p.Ile194Leu) c.523A>C (p.Ile175Leu) n.289A>C n.411A>C c.694A>C (p.Ile232Leu) c.676A>C (p.Ile226Leu) | dbSNP |
| 9 | g.130471498A>G | CA375227492 | ASS1 | c.580A>G (p.Ile194Val) c.523A>G (p.Ile175Val) n.289A>G n.411A>G c.694A>G (p.Ile232Val) c.676A>G (p.Ile226Val) | |
| 9 | g.130471498A>T | CA375227493 | ASS1 | c.580A>T (p.Ile194Phe) c.523A>T (p.Ile175Phe) n.289A>T n.411A>T c.694A>T (p.Ile232Phe) c.676A>T (p.Ile226Phe) | |
| 9 | g.130471499T>A | CA375227496 | ASS1 | c.581T>A (p.Ile194Asn) c.524T>A (p.Ile175Asn) n.290T>A n.412T>A c.695T>A (p.Ile232Asn) c.677T>A (p.Ile226Asn) | |
| 9 | g.130471499T>C | CA375227497 | ASS1 | c.581T>C (p.Ile194Thr) c.524T>C (p.Ile175Thr) n.290T>C n.412T>C c.695T>C (p.Ile232Thr) c.677T>C (p.Ile226Thr) | gnomAD v4 |
| 9 | g.130471499T>G | CA375227498 | ASS1 | c.581T>G (p.Ile194Ser) c.524T>G (p.Ile175Ser) n.290T>G n.412T>G c.695T>G (p.Ile232Ser) c.677T>G (p.Ile226Ser) | |
| 9 | g.130471500C>A | CA467389254 | ASS1 | c.582C>A (p.Ile194=) c.525C>A (p.Ile175=) n.291C>A n.413C>A c.696C>A (p.Ile232=) c.678C>A (p.Ile226=) | |
| 9 | g.130471500C>G | CA375227500 | ASS1 | c.582C>G (p.Ile194Met) c.525C>G (p.Ile175Met) n.291C>G n.413C>G c.696C>G (p.Ile232Met) c.678C>G (p.Ile226Met) | gnomAD v4 |
| 9 | g.130471500C>T | CA467389253 | ASS1 | c.582C>T (p.Ile194=) c.525C>T (p.Ile175=) n.291C>T n.413C>T c.696C>T (p.Ile232=) c.678C>T (p.Ile226=) | ClinVar dbSNP |
| 9 | g.130471500_130471501delinsTT | CA645547254 | ASS1 | c.582_583delinsTT (p.Ile194=) c.525_526delinsTT (p.Ile175=) n.291_292delinsTT n.413_414delinsTT c.696_697delinsTT (p.Ile232=) c.678_679delinsTT (p.Ile226=) | COSMIC |
| 9 | g.130471501C>A | CA375227502 | ASS1 | c.583C>A (p.Leu195Met) c.526C>A (p.Leu176Met) n.292C>A n.414C>A c.697C>A (p.Leu233Met) c.679C>A (p.Leu227Met) | |
| 9 | g.130471501C= | CA1881256272 | ASS1 | c.583C= (p.Leu195=) c.526C= (p.Leu176=) n.292C= n.414C= c.697C= (p.Leu233=) c.679C= (p.Leu227=) | |
| 9 | g.130471501C>G | CA375227504 | ASS1 | c.583C>G (p.Leu195Val) c.526C>G (p.Leu176Val) n.292C>G n.414C>G c.697C>G (p.Leu233Val) c.679C>G (p.Leu227Val) | |
| 9 | g.130471501C>T | CA467389255 | ASS1 | c.583C>T (p.Leu195=) c.526C>T (p.Leu176=) n.292C>T n.414C>T c.697C>T (p.Leu233=) c.679C>T (p.Leu227=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.130471502T>A | CA375227506 | ASS1 | c.584T>A (p.Leu195Gln) c.527T>A (p.Leu176Gln) n.293T>A n.415T>A c.698T>A (p.Leu233Gln) c.680T>A (p.Leu227Gln) | |
| 9 | g.130471502T>C | CA312360 | ASS1 | c.584T>C (p.Leu195Pro) c.527T>C (p.Leu176Pro) n.293T>C n.415T>C c.698T>C (p.Leu233Pro) c.680T>C (p.Leu227Pro) | ClinVar dbSNP |
| 9 | g.130471502T>G | CA375227509 | ASS1 | c.584T>G (p.Leu195Arg) c.527T>G (p.Leu176Arg) n.293T>G n.415T>G c.698T>G (p.Leu233Arg) c.680T>G (p.Leu227Arg) | |
| 9 | g.130471502T= | CA1881256275 | ASS1 | c.584T= (p.Leu195=) c.527T= (p.Leu176=) n.293T= n.415T= c.698T= (p.Leu233=) c.680T= (p.Leu227=) | |
| 9 | g.130471503G>A | CA467389261 | ASS1 | c.585G>A (p.Leu195=) c.528G>A (p.Leu176=) n.294G>A n.416G>A c.699G>A (p.Leu233=) c.681G>A (p.Leu227=) | ClinVar dbSNP |
| 9 | g.130471503G>C | CA467389259 | ASS1 | c.585G>C (p.Leu195=) c.528G>C (p.Leu176=) n.294G>C n.416G>C c.699G>C (p.Leu233=) c.681G>C (p.Leu227=) | |
| 9 | g.130471503G>T | CA467389260 | ASS1 | c.585G>T (p.Leu195=) c.528G>T (p.Leu176=) n.294G>T n.416G>T c.699G>T (p.Leu233=) c.681G>T (p.Leu227=) | |
| 9 | g.130471504G>A | CA375227514 | ASS1 | c.586G>A (p.Glu196Lys) c.529G>A (p.Glu177Lys) n.295G>A n.417G>A c.700G>A (p.Glu234Lys) c.682G>A (p.Glu228Lys) | ClinVar dbSNP gnomAD v4 |
| 9 | g.130471504G>C | CA375227513 | ASS1 | c.586G>C (p.Glu196Gln) c.529G>C (p.Glu177Gln) n.295G>C n.417G>C c.700G>C (p.Glu234Gln) c.682G>C (p.Glu228Gln) | gnomAD v4 |
| 9 | g.130471504G= | CA1881256279 | ASS1 | c.586G= (p.Glu196=) c.529G= (p.Glu177=) n.295G= n.417G= c.700G= (p.Glu234=) c.682G= (p.Glu228=) | |
| 9 | g.130471504G>T | CA375227511 | ASS1 | c.586G>T (p.Glu196Ter) c.529G>T (p.Glu177Ter) n.295G>T n.417G>T c.700G>T (p.Glu234Ter) c.682G>T (p.Glu228Ter) | |
| 9 | g.130471505A= | CA1881256283 | ASS1 | c.587A= (p.Glu196=) c.530A= (p.Glu177=) n.296A= n.418A= c.701A= (p.Glu234=) c.683A= (p.Glu228=) | |
| 9 | g.130471505A>C | CA375227517 | ASS1 | c.587A>C (p.Glu196Ala) c.530A>C (p.Glu177Ala) n.296A>C n.418A>C c.701A>C (p.Glu234Ala) c.683A>C (p.Glu228Ala) | dbSNP gnomAD v2 gnomAD v4 |