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.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 |
| 3 | g.122284154A= | CA1397871784 | CASR | c.1969A= (p.Met657=) c.2230A= (p.Met744=) c.2200A= (p.Met734=) c.1717A= (p.Met573=) c.1612A= (p.Met538=) | |
| 3 | g.122284154A>C | CA354158997 | CASR | c.1969A>C (p.Met657Leu) c.2230A>C (p.Met744Leu) c.2200A>C (p.Met734Leu) c.1717A>C (p.Met573Leu) c.1612A>C (p.Met538Leu) | |
| 3 | g.122284154A>G | CA354158999 | CASR | c.1969A>G (p.Met657Val) c.2230A>G (p.Met744Val) c.2200A>G (p.Met734Val) c.1717A>G (p.Met573Val) c.1612A>G (p.Met538Val) | |
| 3 | g.122284154A>T | CA354159001 | CASR | c.1969A>T (p.Met657Leu) c.2230A>T (p.Met744Leu) c.2200A>T (p.Met734Leu) c.1717A>T (p.Met573Leu) c.1612A>T (p.Met538Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122284155T>A | CA354159005 | CASR | c.1970T>A (p.Met657Lys) c.2231T>A (p.Met744Lys) c.2201T>A (p.Met734Lys) c.1718T>A (p.Met573Lys) c.1613T>A (p.Met538Lys) | |
| 3 | g.122284155T>C | CA354159008 | CASR | c.1970T>C (p.Met657Thr) c.2231T>C (p.Met744Thr) c.2201T>C (p.Met734Thr) c.1718T>C (p.Met573Thr) c.1613T>C (p.Met538Thr) | |
| 3 | g.122284155T>G | CA354159003 | CASR | c.1970T>G (p.Met657Arg) c.2231T>G (p.Met744Arg) c.2201T>G (p.Met734Arg) c.1718T>G (p.Met573Arg) c.1613T>G (p.Met538Arg) | gnomAD v4 |
| 3 | g.122284156G>A | CA82748800 | CASR | c.1971G>A (p.Met657Ile) c.2232G>A (p.Met744Ile) c.2202G>A (p.Met734Ile) c.1719G>A (p.Met573Ile) c.1614G>A (p.Met538Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284156G>C | CA354159011 | CASR | c.1971G>C (p.Met657Ile) c.2232G>C (p.Met744Ile) c.2202G>C (p.Met734Ile) c.1719G>C (p.Met573Ile) c.1614G>C (p.Met538Ile) | |
| 3 | g.122284156G= | CA1397871787 | CASR | c.1971G= (p.Met657=) c.2232G= (p.Met744=) c.2202G= (p.Met734=) c.1719G= (p.Met573=) c.1614G= (p.Met538=) | |
| 3 | g.122284156G>T | CA354159013 | CASR | c.1971G>T (p.Met657Ile) c.2232G>T (p.Met744Ile) c.2202G>T (p.Met734Ile) c.1719G>T (p.Met573Ile) c.1614G>T (p.Met538Ile) | gnomAD v4 |
| 3 | g.122284157C>A | CA354159015 | CASR | c.1972C>A (p.Gln658Lys) c.2233C>A (p.Gln745Lys) c.2203C>A (p.Gln735Lys) c.1720C>A (p.Gln574Lys) c.1615C>A (p.Gln539Lys) | ClinVar dbSNP |
| 3 | g.122284157C= | CA1397871791 | CASR | c.1972C= (p.Gln658=) c.2233C= (p.Gln745=) c.2203C= (p.Gln735=) c.1720C= (p.Gln574=) c.1615C= (p.Gln539=) | |
| 3 | g.122284157C>G | CA354159018 | CASR | c.1972C>G (p.Gln658Glu) c.2233C>G (p.Gln745Glu) c.2203C>G (p.Gln735Glu) c.1720C>G (p.Gln574Glu) c.1615C>G (p.Gln539Glu) | |
| 3 | g.122284157C>T | CA354159016 | CASR | c.1972C>T (p.Gln658Ter) c.2233C>T (p.Gln745Ter) c.2203C>T (p.Gln735Ter) c.1720C>T (p.Gln574Ter) c.1615C>T (p.Gln539Ter) | |
| 3 | g.122284158A>C | CA354159020 | CASR | c.1973A>C (p.Gln658Pro) c.2234A>C (p.Gln745Pro) c.2204A>C (p.Gln735Pro) c.1721A>C (p.Gln574Pro) c.1616A>C (p.Gln539Pro) | ClinVar |
| 3 | g.122284158A>G | CA354159021 | CASR | c.1973A>G (p.Gln658Arg) c.2234A>G (p.Gln745Arg) c.2204A>G (p.Gln735Arg) c.1721A>G (p.Gln574Arg) c.1616A>G (p.Gln539Arg) | |
| 3 | g.122284158A>T | CA354159022 | CASR | c.1973A>T (p.Gln658Leu) c.2234A>T (p.Gln745Leu) c.2204A>T (p.Gln735Leu) c.1721A>T (p.Gln574Leu) c.1616A>T (p.Gln539Leu) | |
| 3 | g.122284159G>A | CA435425310 | CASR | c.1974G>A (p.Gln658=) c.2235G>A (p.Gln745=) c.2205G>A (p.Gln735=) c.1722G>A (p.Gln574=) c.1617G>A (p.Gln539=) | |
| 3 | g.122284159G>C | CA354159023 | CASR | c.1974G>C (p.Gln658His) c.2235G>C (p.Gln745His) c.2205G>C (p.Gln735His) c.1722G>C (p.Gln574His) c.1617G>C (p.Gln539His) | ClinVar gnomAD v4 |
| 3 | g.122284159G>T | CA354159024 | CASR | c.1974G>T (p.Gln658His) c.2235G>T (p.Gln745His) c.2205G>T (p.Gln735His) c.1722G>T (p.Gln574His) c.1617G>T (p.Gln539His) | |
| 3 | g.122284160A>C | CA354159026 | CASR | c.1975A>C (p.Ile659Leu) c.2236A>C (p.Ile746Leu) c.2206A>C (p.Ile736Leu) c.1723A>C (p.Ile575Leu) c.1618A>C (p.Ile540Leu) | |
| 3 | g.122284160A>G | CA354159028 | CASR | c.1975A>G (p.Ile659Val) c.2236A>G (p.Ile746Val) c.2206A>G (p.Ile736Val) c.1723A>G (p.Ile575Val) c.1618A>G (p.Ile540Val) |