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.122284139T>A | CA354158931 | CASR | c.1954T>A (p.Phe652Ile) c.2215T>A (p.Phe739Ile) c.2185T>A (p.Phe729Ile) c.1702T>A (p.Phe568Ile) c.1597T>A (p.Phe533Ile) | |
| 3 | g.122284139T>C | CA354158933 | CASR | c.1954T>C (p.Phe652Leu) c.2215T>C (p.Phe739Leu) c.2185T>C (p.Phe729Leu) c.1702T>C (p.Phe568Leu) c.1597T>C (p.Phe533Leu) | ClinVar |
| 3 | g.122284139T>G | CA354158935 | CASR | c.1954T>G (p.Phe652Val) c.2215T>G (p.Phe739Val) c.2185T>G (p.Phe729Val) c.1702T>G (p.Phe568Val) c.1597T>G (p.Phe533Val) | |
| 3 | g.122284140T>A | CA354158937 | CASR | c.1955T>A (p.Phe652Tyr) c.2216T>A (p.Phe739Tyr) c.2186T>A (p.Phe729Tyr) c.1703T>A (p.Phe568Tyr) c.1598T>A (p.Phe533Tyr) | |
| 3 | g.122284140T>C | CA354158939 | CASR | c.1955T>C (p.Phe652Ser) c.2216T>C (p.Phe739Ser) c.2186T>C (p.Phe729Ser) c.1703T>C (p.Phe568Ser) c.1598T>C (p.Phe533Ser) | |
| 3 | g.122284140T>G | CA354158941 | CASR | c.1955T>G (p.Phe652Cys) c.2216T>G (p.Phe739Cys) c.2186T>G (p.Phe729Cys) c.1703T>G (p.Phe568Cys) c.1598T>G (p.Phe533Cys) | |
| 3 | g.122284141C>A | CA354158943 | CASR | c.1956C>A (p.Phe652Leu) c.2217C>A (p.Phe739Leu) c.2187C>A (p.Phe729Leu) c.1704C>A (p.Phe568Leu) c.1599C>A (p.Phe533Leu) | |
| 3 | g.122284141C>G | CA354158944 | CASR | c.1956C>G (p.Phe652Leu) c.2217C>G (p.Phe739Leu) c.2187C>G (p.Phe729Leu) c.1704C>G (p.Phe568Leu) c.1599C>G (p.Phe533Leu) | |
| 3 | g.122284141C>T | CA435425283 | CASR | c.1956C>T (p.Phe652=) c.2217C>T (p.Phe739=) c.2187C>T (p.Phe729=) c.1704C>T (p.Phe568=) c.1599C>T (p.Phe533=) | ClinVar |
| 3 | g.122284142C>A | CA354158946 | CASR | c.1957C>A (p.Leu653Ile) c.2218C>A (p.Leu740Ile) c.2188C>A (p.Leu730Ile) c.1705C>A (p.Leu569Ile) c.1600C>A (p.Leu534Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122284142C= | CA1397871764 | CASR | c.1957C= (p.Leu653=) c.2218C= (p.Leu740=) c.2188C= (p.Leu730=) c.1705C= (p.Leu569=) c.1600C= (p.Leu534=) | |
| 3 | g.122284142C>G | CA354158947 | CASR | c.1957C>G (p.Leu653Val) c.2218C>G (p.Leu740Val) c.2188C>G (p.Leu730Val) c.1705C>G (p.Leu569Val) c.1600C>G (p.Leu534Val) | |
| 3 | g.122284142C>T | CA354158949 | CASR | c.1957C>T (p.Leu653Phe) c.2218C>T (p.Leu740Phe) c.2188C>T (p.Leu730Phe) c.1705C>T (p.Leu569Phe) c.1600C>T (p.Leu534Phe) | ClinVar gnomAD v4 |
| 3 | g.122284143T>A | CA354158951 | CASR | c.1958T>A (p.Leu653His) c.2219T>A (p.Leu740His) c.2189T>A (p.Leu730His) c.1706T>A (p.Leu569His) c.1601T>A (p.Leu534His) | |
| 3 | g.122284143T>C | CA354158956 | CASR | c.1958T>C (p.Leu653Pro) c.2219T>C (p.Leu740Pro) c.2189T>C (p.Leu730Pro) c.1706T>C (p.Leu569Pro) c.1601T>C (p.Leu534Pro) | |
| 3 | g.122284143T>G | CA354158955 | CASR | c.1958T>G (p.Leu653Arg) c.2219T>G (p.Leu740Arg) c.2189T>G (p.Leu730Arg) c.1706T>G (p.Leu569Arg) c.1601T>G (p.Leu534Arg) | |
| 3 | g.122284144C>A | CA435425286 | CASR | c.1959C>A (p.Leu653=) c.2220C>A (p.Leu740=) c.2190C>A (p.Leu730=) c.1707C>A (p.Leu569=) c.1602C>A (p.Leu534=) | COSMIC |
| 3 | g.122284144C= | CA1397871768 | CASR | c.1959C= (p.Leu653=) c.2220C= (p.Leu740=) c.2190C= (p.Leu730=) c.1707C= (p.Leu569=) c.1602C= (p.Leu534=) | |
| 3 | g.122284144C>G | CA435425287 | CASR | c.1959C>G (p.Leu653=) c.2220C>G (p.Leu740=) c.2190C>G (p.Leu730=) c.1707C>G (p.Leu569=) c.1602C>G (p.Leu534=) | ClinVar |
| 3 | g.122284144C>T | CA435425288 | CASR | c.1959C>T (p.Leu653=) c.2220C>T (p.Leu740=) c.2190C>T (p.Leu730=) c.1707C>T (p.Leu569=) c.1602C>T (p.Leu534=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284145T>A | CA354158959 | CASR | c.1960T>A (p.Cys654Ser) c.2221T>A (p.Cys741Ser) c.2191T>A (p.Cys731Ser) c.1708T>A (p.Cys570Ser) c.1603T>A (p.Cys535Ser) | ClinVar |
| 3 | g.122284145T>C | CA354158960 | CASR | c.1960T>C (p.Cys654Arg) c.2221T>C (p.Cys741Arg) c.2191T>C (p.Cys731Arg) c.1708T>C (p.Cys570Arg) c.1603T>C (p.Cys535Arg) | |
| 3 | g.122284145T>G | CA354158962 | CASR | c.1960T>G (p.Cys654Gly) c.2221T>G (p.Cys741Gly) c.2191T>G (p.Cys731Gly) c.1708T>G (p.Cys570Gly) c.1603T>G (p.Cys535Gly) | |
| 3 | g.122284146G>A | CA354158964 | CASR | c.1961G>A (p.Cys654Tyr) c.2222G>A (p.Cys741Tyr) c.2192G>A (p.Cys731Tyr) c.1709G>A (p.Cys570Tyr) c.1604G>A (p.Cys535Tyr) | |
| 3 | g.122284146G>C | CA354158965 | CASR | c.1961G>C (p.Cys654Ser) c.2222G>C (p.Cys741Ser) c.2192G>C (p.Cys731Ser) c.1709G>C (p.Cys570Ser) c.1604G>C (p.Cys535Ser) | |
| 3 | g.122284146G>T | CA354158967 | CASR | c.1961G>T (p.Cys654Phe) c.2222G>T (p.Cys741Phe) c.2192G>T (p.Cys731Phe) c.1709G>T (p.Cys570Phe) c.1604G>T (p.Cys535Phe) | |
| 3 | g.122284147C>A | CA354158969 | CASR | c.1962C>A (p.Cys654Ter) c.2223C>A (p.Cys741Ter) c.2193C>A (p.Cys731Ter) c.1710C>A (p.Cys570Ter) c.1605C>A (p.Cys535Ter) | |
| 3 | g.122284147C= | CA1397871770 | CASR | c.1962C= (p.Cys654=) c.2223C= (p.Cys741=) c.2193C= (p.Cys731=) c.1710C= (p.Cys570=) c.1605C= (p.Cys535=) | |
| 3 | g.122284147C>G | CA354158970 | CASR | c.1962C>G (p.Cys654Trp) c.2223C>G (p.Cys741Trp) c.2193C>G (p.Cys731Trp) c.1710C>G (p.Cys570Trp) c.1605C>G (p.Cys535Trp) | |
| 3 | g.122284147C>T | CA2569790 | CASR | c.1962C>T (p.Cys654=) c.2223C>T (p.Cys741=) c.2193C>T (p.Cys731=) c.1710C>T (p.Cys570=) c.1605C>T (p.Cys535=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284148A= | CA1397871773 | CASR | c.1963A= (p.Thr655=) c.2224A= (p.Thr742=) c.2194A= (p.Thr732=) c.1711A= (p.Thr571=) c.1606A= (p.Thr536=) | |
| 3 | g.122284148A>C | CA354158971 | CASR | c.1963A>C (p.Thr655Pro) c.2224A>C (p.Thr742Pro) c.2194A>C (p.Thr732Pro) c.1711A>C (p.Thr571Pro) c.1606A>C (p.Thr536Pro) | |
| 3 | g.122284148A>G | CA354158972 | CASR | c.1963A>G (p.Thr655Ala) c.2224A>G (p.Thr742Ala) c.2194A>G (p.Thr732Ala) c.1711A>G (p.Thr571Ala) c.1606A>G (p.Thr536Ala) | ClinVar dbSNP COSMIC |
| 3 | g.122284148A>T | CA354158973 | CASR | c.1963A>T (p.Thr655Ser) c.2224A>T (p.Thr742Ser) c.2194A>T (p.Thr732Ser) c.1711A>T (p.Thr571Ser) c.1606A>T (p.Thr536Ser) | |
| 3 | g.122284149C>A | CA354158979 | CASR | c.1964C>A (p.Thr655Asn) c.2225C>A (p.Thr742Asn) c.2195C>A (p.Thr732Asn) c.1712C>A (p.Thr571Asn) c.1607C>A (p.Thr536Asn) | |
| 3 | g.122284149C>G | CA354158975 | CASR | c.1964C>G (p.Thr655Ser) c.2225C>G (p.Thr742Ser) c.2195C>G (p.Thr732Ser) c.1712C>G (p.Thr571Ser) c.1607C>G (p.Thr536Ser) | |
| 3 | g.122284149C>T | CA354158977 | CASR | c.1964C>T (p.Thr655Ile) c.2225C>T (p.Thr742Ile) c.2195C>T (p.Thr732Ile) c.1712C>T (p.Thr571Ile) c.1607C>T (p.Thr536Ile) | gnomAD v4 |
| 3 | g.122284150C>A | CA435425295 | CASR | c.1965C>A (p.Thr655=) c.2226C>A (p.Thr742=) c.2196C>A (p.Thr732=) c.1713C>A (p.Thr571=) c.1608C>A (p.Thr536=) | gnomAD v4 |
| 3 | g.122284150C>G | CA435425296 | CASR | c.1965C>G (p.Thr655=) c.2226C>G (p.Thr742=) c.2196C>G (p.Thr732=) c.1713C>G (p.Thr571=) c.1608C>G (p.Thr536=) | |
| 3 | g.122284150C>T | CA435425298 | CASR | c.1965C>T (p.Thr655=) c.2226C>T (p.Thr742=) c.2196C>T (p.Thr732=) c.1713C>T (p.Thr571=) c.1608C>T (p.Thr536=) | ClinVar gnomAD v4 |
| 3 | g.122284151T>A | CA354158982 | CASR | c.1966T>A (p.Phe656Ile) c.2227T>A (p.Phe743Ile) c.2197T>A (p.Phe733Ile) c.1714T>A (p.Phe572Ile) c.1609T>A (p.Phe537Ile) | gnomAD v4 |
| 3 | g.122284151T>C | CA354158984 | CASR | c.1966T>C (p.Phe656Leu) c.2227T>C (p.Phe743Leu) c.2197T>C (p.Phe733Leu) c.1714T>C (p.Phe572Leu) c.1609T>C (p.Phe537Leu) | |
| 3 | g.122284151T>G | CA354158985 | CASR | c.1966T>G (p.Phe656Val) c.2227T>G (p.Phe743Val) c.2197T>G (p.Phe733Val) c.1714T>G (p.Phe572Val) c.1609T>G (p.Phe537Val) | |
| 3 | g.122284152T>A | CA354158989 | CASR | c.1967T>A (p.Phe656Tyr) c.2228T>A (p.Phe743Tyr) c.2198T>A (p.Phe733Tyr) c.1715T>A (p.Phe572Tyr) c.1610T>A (p.Phe537Tyr) | |
| 3 | g.122284152T>C | CA354158991 | CASR | c.1967T>C (p.Phe656Ser) c.2228T>C (p.Phe743Ser) c.2198T>C (p.Phe733Ser) c.1715T>C (p.Phe572Ser) c.1610T>C (p.Phe537Ser) | |
| 3 | g.122284152T>G | CA354158993 | CASR | c.1967T>G (p.Phe656Cys) c.2228T>G (p.Phe743Cys) c.2198T>G (p.Phe733Cys) c.1715T>G (p.Phe572Cys) c.1610T>G (p.Phe537Cys) | |
| 3 | g.122284153C>A | CA354158995 | CASR | c.1968C>A (p.Phe656Leu) c.2229C>A (p.Phe743Leu) c.2199C>A (p.Phe733Leu) c.1716C>A (p.Phe572Leu) c.1611C>A (p.Phe537Leu) | ClinVar dbSNP |
| 3 | g.122284153C= | CA1397871778 | CASR | c.1968C= (p.Phe656=) c.2229C= (p.Phe743=) c.2199C= (p.Phe733=) c.1716C= (p.Phe572=) c.1611C= (p.Phe537=) | |
| 3 | g.122284153C>G | CA354158996 | CASR | c.1968C>G (p.Phe656Leu) c.2229C>G (p.Phe743Leu) c.2199C>G (p.Phe733Leu) c.1716C>G (p.Phe572Leu) c.1611C>G (p.Phe537Leu) | |
| 3 | g.122284153C>T | CA435425302 | CASR | c.1968C>T (p.Phe656=) c.2229C>T (p.Phe743=) c.2199C>T (p.Phe733=) c.1716C>T (p.Phe572=) c.1611C>T (p.Phe537=) | COSMIC |