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 |
|---|---|---|---|---|---|
| 3 | g.122284230A>C | CA354159278 | CASR | c.2045A>C (p.Glu682Ala) c.2306A>C (p.Glu769Ala) c.2276A>C (p.Glu759Ala) c.1793A>C (p.Glu598Ala) c.1688A>C (p.Glu563Ala) | |
| 3 | g.122284230A>G | CA354159279 | CASR | c.2045A>G (p.Glu682Gly) c.2306A>G (p.Glu769Gly) c.2276A>G (p.Glu759Gly) c.1793A>G (p.Glu598Gly) c.1688A>G (p.Glu563Gly) | |
| 3 | g.122284230A>T | CA354159276 | CASR | c.2045A>T (p.Glu682Val) c.2306A>T (p.Glu769Val) c.2276A>T (p.Glu759Val) c.1793A>T (p.Glu598Val) c.1688A>T (p.Glu563Val) | |
| 3 | g.122284231G>A | CA435424805 | CASR | c.2046G>A (p.Glu682=) c.2307G>A (p.Glu769=) c.2277G>A (p.Glu759=) c.1794G>A (p.Glu598=) c.1689G>A (p.Glu563=) | gnomAD v4 |
| 3 | g.122284231G>C | CA354159283 | CASR | c.2046G>C (p.Glu682Asp) c.2307G>C (p.Glu769Asp) c.2277G>C (p.Glu759Asp) c.1794G>C (p.Glu598Asp) c.1689G>C (p.Glu563Asp) | |
| 3 | g.122284231G>T | CA354159282 | CASR | c.2046G>T (p.Glu682Asp) c.2307G>T (p.Glu769Asp) c.2277G>T (p.Glu759Asp) c.1794G>T (p.Glu598Asp) c.1689G>T (p.Glu563Asp) | |
| 3 | g.122284232A= | CA1397871952 | CASR | c.2047A= (p.Ile683=) c.2308A= (p.Ile770=) c.2278A= (p.Ile760=) c.1795A= (p.Ile599=) c.1690A= (p.Ile564=) | |
| 3 | g.122284232A>C | CA354159286 | CASR | c.2047A>C (p.Ile683Leu) c.2308A>C (p.Ile770Leu) c.2278A>C (p.Ile760Leu) c.1795A>C (p.Ile599Leu) c.1690A>C (p.Ile564Leu) | |
| 3 | g.122284232A>G | CA354159288 | CASR | c.2047A>G (p.Ile683Val) c.2308A>G (p.Ile770Val) c.2278A>G (p.Ile760Val) c.1795A>G (p.Ile599Val) c.1690A>G (p.Ile564Val) | ClinVar dbSNP |
| 3 | g.122284232A>T | CA354159289 | CASR | c.2047A>T (p.Ile683Phe) c.2308A>T (p.Ile770Phe) c.2278A>T (p.Ile760Phe) c.1795A>T (p.Ile599Phe) c.1690A>T (p.Ile564Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122284235_122284237del | CA2586972868 | CASR | c.2050_2052del (p.Ile684del) c.2311_2313del (p.Ile771del) c.2281_2283del (p.Ile761del) c.1798_1800del (p.Ile600del) c.1693_1695del (p.Ile565del) | |
| 3 | g.122284233T>A | CA354159291 | CASR | c.2048T>A (p.Ile683Asn) c.2309T>A (p.Ile770Asn) c.2279T>A (p.Ile760Asn) c.1796T>A (p.Ile599Asn) c.1691T>A (p.Ile564Asn) | |
| 3 | g.122284233T>C | CA354159293 | CASR | c.2048T>C (p.Ile683Thr) c.2309T>C (p.Ile770Thr) c.2279T>C (p.Ile760Thr) c.1796T>C (p.Ile599Thr) c.1691T>C (p.Ile564Thr) | |
| 3 | g.122284233T>G | CA354159295 | CASR | c.2048T>G (p.Ile683Ser) c.2309T>G (p.Ile770Ser) c.2279T>G (p.Ile760Ser) c.1796T>G (p.Ile599Ser) c.1691T>G (p.Ile564Ser) | gnomAD v4 |
| 3 | g.122284234C>A | CA435424809 | CASR | c.2049C>A (p.Ile683=) c.2310C>A (p.Ile770=) c.2280C>A (p.Ile760=) c.1797C>A (p.Ile599=) c.1692C>A (p.Ile564=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284234C= | CA1397871961 | CASR | c.2049C= (p.Ile683=) c.2310C= (p.Ile770=) c.2280C= (p.Ile760=) c.1797C= (p.Ile599=) c.1692C= (p.Ile564=) | |
| 3 | g.122284234C>G | CA354159297 | CASR | c.2049C>G (p.Ile683Met) c.2310C>G (p.Ile770Met) c.2280C>G (p.Ile760Met) c.1797C>G (p.Ile599Met) c.1692C>G (p.Ile564Met) | ClinVar dbSNP |
| 3 | g.122284234C>T | CA435424810 | CASR | c.2049C>T (p.Ile683=) c.2310C>T (p.Ile770=) c.2280C>T (p.Ile760=) c.1797C>T (p.Ile599=) c.1692C>T (p.Ile564=) | dbSNP COSMIC |
| 3 | g.122284235A>C | CA354159299 | CASR | c.2050A>C (p.Ile684Leu) c.2311A>C (p.Ile771Leu) c.2281A>C (p.Ile761Leu) c.1798A>C (p.Ile600Leu) c.1693A>C (p.Ile565Leu) | ClinVar |
| 3 | g.122284235A>G | CA354159300 | CASR | c.2050A>G (p.Ile684Val) c.2311A>G (p.Ile771Val) c.2281A>G (p.Ile761Val) c.1798A>G (p.Ile600Val) c.1693A>G (p.Ile565Val) | |
| 3 | g.122284235A>T | CA354159301 | CASR | c.2050A>T (p.Ile684Phe) c.2311A>T (p.Ile771Phe) c.2281A>T (p.Ile761Phe) c.1798A>T (p.Ile600Phe) c.1693A>T (p.Ile565Phe) | |
| 3 | g.122284236T>A | CA354159303 | CASR | c.2051T>A (p.Ile684Asn) c.2312T>A (p.Ile771Asn) c.2282T>A (p.Ile761Asn) c.1799T>A (p.Ile600Asn) c.1694T>A (p.Ile565Asn) | ClinVar |
| 3 | g.122284236T>C | CA354159304 | CASR | c.2051T>C (p.Ile684Thr) c.2312T>C (p.Ile771Thr) c.2282T>C (p.Ile761Thr) c.1799T>C (p.Ile600Thr) c.1694T>C (p.Ile565Thr) | ClinVar |
| 3 | g.122284236T>G | CA354159306 | CASR | c.2051T>G (p.Ile684Ser) c.2312T>G (p.Ile771Ser) c.2282T>G (p.Ile761Ser) c.1799T>G (p.Ile600Ser) c.1694T>G (p.Ile565Ser) | COSMIC |
| 3 | g.122284237C>A | CA435424816 | CASR | c.2052C>A (p.Ile684=) c.2313C>A (p.Ile771=) c.2283C>A (p.Ile761=) c.1800C>A (p.Ile600=) c.1695C>A (p.Ile565=) | ClinVar |
| 3 | g.122284237C>G | CA354159309 | CASR | c.2052C>G (p.Ile684Met) c.2313C>G (p.Ile771Met) c.2283C>G (p.Ile761Met) c.1800C>G (p.Ile600Met) c.1695C>G (p.Ile565Met) | |
| 3 | g.122284237C>T | CA435424815 | CASR | c.2052C>T (p.Ile684=) c.2313C>T (p.Ile771=) c.2283C>T (p.Ile761=) c.1800C>T (p.Ile600=) c.1695C>T (p.Ile565=) | ClinVar |
| 3 | g.122284238T>A | CA354159310 | CASR | c.2053T>A (p.Phe685Ile) c.2314T>A (p.Phe772Ile) c.2284T>A (p.Phe762Ile) c.1801T>A (p.Phe601Ile) c.1696T>A (p.Phe566Ile) | |
| 3 | g.122284238T>C | CA354159312 | CASR | c.2053T>C (p.Phe685Leu) c.2314T>C (p.Phe772Leu) c.2284T>C (p.Phe762Leu) c.1801T>C (p.Phe601Leu) c.1696T>C (p.Phe566Leu) | |
| 3 | g.122284238T>G | CA354159314 | CASR | c.2053T>G (p.Phe685Val) c.2314T>G (p.Phe772Val) c.2284T>G (p.Phe762Val) c.1801T>G (p.Phe601Val) c.1696T>G (p.Phe566Val) | |
| 3 | g.122284239T>A | CA354159317 | CASR | c.2054T>A (p.Phe685Tyr) c.2315T>A (p.Phe772Tyr) c.2285T>A (p.Phe762Tyr) c.1802T>A (p.Phe601Tyr) c.1697T>A (p.Phe566Tyr) | |
| 3 | g.122284239T>C | CA354159319 | CASR | c.2054T>C (p.Phe685Ser) c.2315T>C (p.Phe772Ser) c.2285T>C (p.Phe762Ser) c.1802T>C (p.Phe601Ser) c.1697T>C (p.Phe566Ser) | |
| 3 | g.122284239T>G | CA354159320 | CASR | c.2054T>G (p.Phe685Cys) c.2315T>G (p.Phe772Cys) c.2285T>G (p.Phe762Cys) c.1802T>G (p.Phe601Cys) c.1697T>G (p.Phe566Cys) | |
| 3 | g.122284240C>A | CA354159323 | CASR | c.2055C>A (p.Phe685Leu) c.2316C>A (p.Phe772Leu) c.2286C>A (p.Phe762Leu) c.1803C>A (p.Phe601Leu) c.1698C>A (p.Phe566Leu) | |
| 3 | g.122284240C>G | CA354159324 | CASR | c.2055C>G (p.Phe685Leu) c.2316C>G (p.Phe772Leu) c.2286C>G (p.Phe762Leu) c.1803C>G (p.Phe601Leu) c.1698C>G (p.Phe566Leu) | |
| 3 | g.122284240C>T | CA435424822 | CASR | c.2055C>T (p.Phe685=) c.2316C>T (p.Phe772=) c.2286C>T (p.Phe762=) c.1803C>T (p.Phe601=) c.1698C>T (p.Phe566=) | |
| 3 | g.122284241A>C | CA354159326 | CASR | c.2056A>C (p.Ile686Leu) c.2317A>C (p.Ile773Leu) c.2287A>C (p.Ile763Leu) c.1804A>C (p.Ile602Leu) c.1699A>C (p.Ile567Leu) | ClinVar gnomAD v4 |
| 3 | g.122284241A>G | CA354159327 | CASR | c.2056A>G (p.Ile686Val) c.2317A>G (p.Ile773Val) c.2287A>G (p.Ile763Val) c.1804A>G (p.Ile602Val) c.1699A>G (p.Ile567Val) | gnomAD v4 |
| 3 | g.122284241A>T | CA354159329 | CASR | c.2056A>T (p.Ile686Phe) c.2317A>T (p.Ile773Phe) c.2287A>T (p.Ile763Phe) c.1804A>T (p.Ile602Phe) c.1699A>T (p.Ile567Phe) | COSMIC |
| 3 | g.122284242T>A | CA354159331 | CASR | c.2057T>A (p.Ile686Asn) c.2318T>A (p.Ile773Asn) c.2288T>A (p.Ile763Asn) c.1805T>A (p.Ile602Asn) c.1700T>A (p.Ile567Asn) | |
| 3 | g.122284242T>C | CA354159333 | CASR | c.2057T>C (p.Ile686Thr) c.2318T>C (p.Ile773Thr) c.2288T>C (p.Ile763Thr) c.1805T>C (p.Ile602Thr) c.1700T>C (p.Ile567Thr) | |
| 3 | g.122284242T>G | CA354159336 | CASR | c.2057T>G (p.Ile686Ser) c.2318T>G (p.Ile773Ser) c.2288T>G (p.Ile763Ser) c.1805T>G (p.Ile602Ser) c.1700T>G (p.Ile567Ser) | ClinVar |
| 3 | g.122284243C>A | CA435424831 | CASR | c.2058C>A (p.Ile686=) c.2319C>A (p.Ile773=) c.2289C>A (p.Ile763=) c.1806C>A (p.Ile602=) c.1701C>A (p.Ile567=) | |
| 3 | g.122284243C>G | CA354159338 | CASR | c.2058C>G (p.Ile686Met) c.2319C>G (p.Ile773Met) c.2289C>G (p.Ile763Met) c.1806C>G (p.Ile602Met) c.1701C>G (p.Ile567Met) | |
| 3 | g.122284243C>T | CA435424833 | CASR | c.2058C>T (p.Ile686=) c.2319C>T (p.Ile773=) c.2289C>T (p.Ile763=) c.1806C>T (p.Ile602=) c.1701C>T (p.Ile567=) | |
| 3 | g.122284244A= | CA1397871965 | CASR | c.2059A= (p.Thr687=) c.2320A= (p.Thr774=) c.2290A= (p.Thr764=) c.1807A= (p.Thr603=) c.1702A= (p.Thr568=) | |
| 3 | g.122284244A>C | CA354159342 | CASR | c.2059A>C (p.Thr687Pro) c.2320A>C (p.Thr774Pro) c.2290A>C (p.Thr764Pro) c.1807A>C (p.Thr603Pro) c.1702A>C (p.Thr568Pro) | ClinVar dbSNP |
| 3 | g.122284244A>G | CA354159341 | CASR | c.2059A>G (p.Thr687Ala) c.2320A>G (p.Thr774Ala) c.2290A>G (p.Thr764Ala) c.1807A>G (p.Thr603Ala) c.1702A>G (p.Thr568Ala) | |
| 3 | g.122284244A>T | CA354159343 | CASR | c.2059A>T (p.Thr687Ser) c.2320A>T (p.Thr774Ser) c.2290A>T (p.Thr764Ser) c.1807A>T (p.Thr603Ser) c.1702A>T (p.Thr568Ser) | |
| 3 | g.122284245C>A | CA354159346 | CASR | c.2060C>A (p.Thr687Lys) c.2321C>A (p.Thr774Lys) c.2291C>A (p.Thr764Lys) c.1808C>A (p.Thr603Lys) c.1703C>A (p.Thr568Lys) |