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.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) | |
| 3 | g.122284245C= | CA1397871968 | CASR | c.2060C= (p.Thr687=) c.2321C= (p.Thr774=) c.2291C= (p.Thr764=) c.1808C= (p.Thr603=) c.1703C= (p.Thr568=) | |
| 3 | g.122284245C>G | CA354159348 | CASR | c.2060C>G (p.Thr687Arg) c.2321C>G (p.Thr774Arg) c.2291C>G (p.Thr764Arg) c.1808C>G (p.Thr603Arg) c.1703C>G (p.Thr568Arg) | |
| 3 | g.122284245C>T | CA2569808 | CASR | c.2060C>T (p.Thr687Met) c.2321C>T (p.Thr774Met) c.2291C>T (p.Thr764Met) c.1808C>T (p.Thr603Met) c.1703C>T (p.Thr568Met) | ClinVar dbSNP ExAC gnomAD v2 |
| 3 | g.122284246G>A | CA82748899 | CASR | c.2061G>A (p.Thr687=) c.2322G>A (p.Thr774=) c.2292G>A (p.Thr764=) c.1809G>A (p.Thr603=) c.1704G>A (p.Thr568=) | ClinVar dbSNP |
| 3 | g.122284246G>C | CA435424841 | CASR | c.2061G>C (p.Thr687=) c.2322G>C (p.Thr774=) c.2292G>C (p.Thr764=) c.1809G>C (p.Thr603=) c.1704G>C (p.Thr568=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284246G= | CA1397871973 | CASR | c.2061G= (p.Thr687=) c.2322G= (p.Thr774=) c.2292G= (p.Thr764=) c.1809G= (p.Thr603=) c.1704G= (p.Thr568=) | |
| 3 | g.122284246G>T | CA435424842 | CASR | c.2061G>T (p.Thr687=) c.2322G>T (p.Thr774=) c.2292G>T (p.Thr764=) c.1809G>T (p.Thr603=) c.1704G>T (p.Thr568=) | ClinVar |
| 3 | g.122284247T>A | CA354159353 | CASR | c.2062T>A (p.Cys688Ser) c.2323T>A (p.Cys775Ser) c.2293T>A (p.Cys765Ser) c.1810T>A (p.Cys604Ser) c.1705T>A (p.Cys569Ser) | |
| 3 | g.122284247T>C | CA354159356 | CASR | c.2062T>C (p.Cys688Arg) c.2323T>C (p.Cys775Arg) c.2293T>C (p.Cys765Arg) c.1810T>C (p.Cys604Arg) c.1705T>C (p.Cys569Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122284247T>G | CA354159358 | CASR | c.2062T>G (p.Cys688Gly) c.2323T>G (p.Cys775Gly) c.2293T>G (p.Cys765Gly) c.1810T>G (p.Cys604Gly) c.1705T>G (p.Cys569Gly) | |
| 3 | g.122284247T= | CA1397871981 | CASR | c.2062T= (p.Cys688=) c.2323T= (p.Cys775=) c.2293T= (p.Cys765=) c.1810T= (p.Cys604=) c.1705T= (p.Cys569=) | |
| 3 | g.122284248G>A | CA354159360 | CASR | c.2063G>A (p.Cys688Tyr) c.2324G>A (p.Cys775Tyr) c.2294G>A (p.Cys765Tyr) c.1811G>A (p.Cys604Tyr) c.1706G>A (p.Cys569Tyr) | |
| 3 | g.122284248G>C | CA354159363 | CASR | c.2063G>C (p.Cys688Ser) c.2324G>C (p.Cys775Ser) c.2294G>C (p.Cys765Ser) c.1811G>C (p.Cys604Ser) c.1706G>C (p.Cys569Ser) | |
| 3 | g.122284248G>T | CA354159365 | CASR | c.2063G>T (p.Cys688Phe) c.2324G>T (p.Cys775Phe) c.2294G>T (p.Cys765Phe) c.1811G>T (p.Cys604Phe) c.1706G>T (p.Cys569Phe) | |
| 3 | g.122284249C>A | CA354159367 | CASR | c.2064C>A (p.Cys688Ter) c.2325C>A (p.Cys775Ter) c.2295C>A (p.Cys765Ter) c.1812C>A (p.Cys604Ter) c.1707C>A (p.Cys569Ter) | |
| 3 | g.122284249C= | CA1397871988 | CASR | c.2064C= (p.Cys688=) c.2325C= (p.Cys775=) c.2295C= (p.Cys765=) c.1812C= (p.Cys604=) c.1707C= (p.Cys569=) | |
| 3 | g.122284249C>G | CA354159369 | CASR | c.2064C>G (p.Cys688Trp) c.2325C>G (p.Cys775Trp) c.2295C>G (p.Cys765Trp) c.1812C>G (p.Cys604Trp) c.1707C>G (p.Cys569Trp) | ClinVar dbSNP |
| 3 | g.122284249C>T | CA435424843 | CASR | c.2064C>T (p.Cys688=) c.2325C>T (p.Cys775=) c.2295C>T (p.Cys765=) c.1812C>T (p.Cys604=) c.1707C>T (p.Cys569=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284250C>A | CA354159378 | CASR | c.2065C>A (p.His689Asn) c.2326C>A (p.His776Asn) c.2296C>A (p.His766Asn) c.1813C>A (p.His605Asn) c.1708C>A (p.His570Asn) | ClinVar dbSNP |
| 3 | g.122284250C= | CA1397871992 | CASR | c.2065C= (p.His689=) c.2326C= (p.His776=) c.2296C= (p.His766=) c.1813C= (p.His605=) c.1708C= (p.His570=) | |
| 3 | g.122284250C>G | CA354159377 | CASR | c.2065C>G (p.His689Asp) c.2326C>G (p.His776Asp) c.2296C>G (p.His766Asp) c.1813C>G (p.His605Asp) c.1708C>G (p.His570Asp) | |
| 3 | g.122284250C>T | CA2569809 | CASR | c.2065C>T (p.His689Tyr) c.2326C>T (p.His776Tyr) c.2296C>T (p.His766Tyr) c.1813C>T (p.His605Tyr) c.1708C>T (p.His570Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284251_122284252dup | CA2499216413 | CASR | c.2066_2067dup (p.Glu690ThrfsTer11) c.2327_2328dup (p.Glu777ThrfsTer11) c.2297_2298dup (p.Glu767ThrfsTer11) c.1814_1815dup (p.Glu606ThrfsTer11) c.1709_1710dup (p.Glu571ThrfsTer11) | ClinVar dbSNP |
| 3 | g.122284251A>C | CA354159381 | CASR | c.2066A>C (p.His689Pro) c.2327A>C (p.His776Pro) c.2297A>C (p.His766Pro) c.1814A>C (p.His605Pro) c.1709A>C (p.His570Pro) | |
| 3 | g.122284251A>G | CA354159382 | CASR | c.2066A>G (p.His689Arg) c.2327A>G (p.His776Arg) c.2297A>G (p.His766Arg) c.1814A>G (p.His605Arg) c.1709A>G (p.His570Arg) | |
| 3 | g.122284251A>T | CA354159385 | CASR | c.2066A>T (p.His689Leu) c.2327A>T (p.His776Leu) c.2297A>T (p.His766Leu) c.1814A>T (p.His605Leu) c.1709A>T (p.His570Leu) | |
| 3 | g.122284252C>A | CA354159390 | CASR | c.2067C>A (p.His689Gln) c.2328C>A (p.His776Gln) c.2298C>A (p.His766Gln) c.1815C>A (p.His605Gln) c.1710C>A (p.His570Gln) | |
| 3 | g.122284252C= | CA1397871996 | CASR | c.2067C= (p.His689=) c.2328C= (p.His776=) c.2298C= (p.His766=) c.1815C= (p.His605=) c.1710C= (p.His570=) | |
| 3 | g.122284252C>G | CA82748902 | CASR | c.2067C>G (p.His689Gln) c.2328C>G (p.His776Gln) c.2298C>G (p.His766Gln) c.1815C>G (p.His605Gln) c.1710C>G (p.His570Gln) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284252C>T | CA2569810 | CASR | c.2067C>T (p.His689=) c.2328C>T (p.His776=) c.2298C>T (p.His766=) c.1815C>T (p.His605=) c.1710C>T (p.His570=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284253G>A | CA354159395 | CASR | c.2068G>A (p.Glu690Lys) c.2329G>A (p.Glu777Lys) c.2299G>A (p.Glu767Lys) c.1816G>A (p.Glu606Lys) c.1711G>A (p.Glu571Lys) | ClinVar dbSNP COSMIC |
| 3 | g.122284253G>C | CA354159397 | CASR | c.2068G>C (p.Glu690Gln) c.2329G>C (p.Glu777Gln) c.2299G>C (p.Glu767Gln) c.1816G>C (p.Glu606Gln) c.1711G>C (p.Glu571Gln) | ClinVar |
| 3 | g.122284253G= | CA1397872004 | CASR | c.2068G= (p.Glu690=) c.2329G= (p.Glu777=) c.2299G= (p.Glu767=) c.1816G= (p.Glu606=) c.1711G= (p.Glu571=) | |
| 3 | g.122284253G>T | CA354159399 | CASR | c.2068G>T (p.Glu690Ter) c.2329G>T (p.Glu777Ter) c.2299G>T (p.Glu767Ter) c.1816G>T (p.Glu606Ter) c.1711G>T (p.Glu571Ter) | |
| 3 | g.122284254A>C | CA354159401 | CASR | c.2069A>C (p.Glu690Ala) c.2330A>C (p.Glu777Ala) c.2300A>C (p.Glu767Ala) c.1817A>C (p.Glu606Ala) c.1712A>C (p.Glu571Ala) | ClinVar dbSNP |
| 3 | g.122284254A>G | CA354159403 | CASR | c.2069A>G (p.Glu690Gly) c.2330A>G (p.Glu777Gly) c.2300A>G (p.Glu767Gly) c.1817A>G (p.Glu606Gly) c.1712A>G (p.Glu571Gly) | |
| 3 | g.122284254A>T | CA354159404 | CASR | c.2069A>T (p.Glu690Val) c.2330A>T (p.Glu777Val) c.2300A>T (p.Glu767Val) c.1817A>T (p.Glu606Val) c.1712A>T (p.Glu571Val) | |
| 3 | g.122284255G>A | CA2569811 | CASR | c.2070G>A (p.Glu690=) c.2331G>A (p.Glu777=) c.2301G>A (p.Glu767=) c.1818G>A (p.Glu606=) c.1713G>A (p.Glu571=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284255G>C | CA354159410 | CASR | c.2070G>C (p.Glu690Asp) c.2331G>C (p.Glu777Asp) c.2301G>C (p.Glu767Asp) c.1818G>C (p.Glu606Asp) c.1713G>C (p.Glu571Asp) | |
| 3 | g.122284255G= | CA1397872011 | CASR | c.2070G= (p.Glu690=) c.2331G= (p.Glu777=) c.2301G= (p.Glu767=) c.1818G= (p.Glu606=) c.1713G= (p.Glu571=) | |
| 3 | g.122284255G>T | CA354159407 | CASR | c.2070G>T (p.Glu690Asp) c.2331G>T (p.Glu777Asp) c.2301G>T (p.Glu767Asp) c.1818G>T (p.Glu606Asp) c.1713G>T (p.Glu571Asp) | |
| 3 | g.122284256G>A | CA354159413 | CASR | c.2071G>A (p.Gly691Ser) c.2332G>A (p.Gly778Ser) c.2302G>A (p.Gly768Ser) c.1819G>A (p.Gly607Ser) c.1714G>A (p.Gly572Ser) |