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.122284421C>A | CA354159979 | CASR | c.2236C>A (p.Pro746Thr) c.2497C>A (p.Pro833Thr) c.2467C>A (p.Pro823Thr) c.1984C>A (p.Pro662Thr) c.1879C>A (p.Pro627Thr) | |
| 3 | g.122284421C= | CA1397872382 | CASR | c.2236C= (p.Pro746=) c.2497C= (p.Pro833=) c.2467C= (p.Pro823=) c.1984C= (p.Pro662=) c.1879C= (p.Pro627=) | |
| 3 | g.122284421C>G | CA354159981 | CASR | c.2236C>G (p.Pro746Ala) c.2497C>G (p.Pro833Ala) c.2467C>G (p.Pro823Ala) c.1984C>G (p.Pro662Ala) c.1879C>G (p.Pro627Ala) | |
| 3 | g.122284421C>T | CA354159983 | CASR | c.2236C>T (p.Pro746Ser) c.2497C>T (p.Pro833Ser) c.2467C>T (p.Pro823Ser) c.1984C>T (p.Pro662Ser) c.1879C>T (p.Pro627Ser) | ClinVar dbSNP COSMIC |
| 3 | g.122284422C>A | CA354159989 | CASR | c.2237C>A (p.Pro746Gln) c.2498C>A (p.Pro833Gln) c.2468C>A (p.Pro823Gln) c.1985C>A (p.Pro662Gln) c.1880C>A (p.Pro627Gln) | |
| 3 | g.122284422C>G | CA354159985 | CASR | c.2237C>G (p.Pro746Arg) c.2498C>G (p.Pro833Arg) c.2468C>G (p.Pro823Arg) c.1985C>G (p.Pro662Arg) c.1880C>G (p.Pro627Arg) | |
| 3 | g.122284422C>T | CA354159986 | CASR | c.2237C>T (p.Pro746Leu) c.2498C>T (p.Pro833Leu) c.2468C>T (p.Pro823Leu) c.1985C>T (p.Pro662Leu) c.1880C>T (p.Pro627Leu) | |
| 3 | g.122284423A>C | CA435425182 | CASR | c.2238A>C (p.Pro746=) c.2499A>C (p.Pro833=) c.2469A>C (p.Pro823=) c.1986A>C (p.Pro662=) c.1881A>C (p.Pro627=) | |
| 3 | g.122284423A>G | CA435425178 | CASR | c.2238A>G (p.Pro746=) c.2499A>G (p.Pro833=) c.2469A>G (p.Pro823=) c.1986A>G (p.Pro662=) c.1881A>G (p.Pro627=) | |
| 3 | g.122284423A>T | CA435425175 | CASR | c.2238A>T (p.Pro746=) c.2499A>T (p.Pro833=) c.2469A>T (p.Pro823=) c.1986A>T (p.Pro662=) c.1881A>T (p.Pro627=) | |
| 3 | g.122284424G>A | CA354159991 | CASR | c.2239G>A (p.Ala747Thr) c.2500G>A (p.Ala834Thr) c.2470G>A (p.Ala824Thr) c.1987G>A (p.Ala663Thr) c.1882G>A (p.Ala628Thr) | ClinVar dbSNP COSMIC |
| 3 | g.122284424G>C | CA354159993 | CASR | c.2239G>C (p.Ala747Pro) c.2500G>C (p.Ala834Pro) c.2470G>C (p.Ala824Pro) c.1987G>C (p.Ala663Pro) c.1882G>C (p.Ala628Pro) | ClinVar |
| 3 | g.122284424G>T | CA354159995 | CASR | c.2239G>T (p.Ala747Ser) c.2500G>T (p.Ala834Ser) c.2470G>T (p.Ala824Ser) c.1987G>T (p.Ala663Ser) c.1882G>T (p.Ala628Ser) | |
| 3 | g.122284425C>A | CA354159996 | CASR | c.2240C>A (p.Ala747Asp) c.2501C>A (p.Ala834Asp) c.2471C>A (p.Ala824Asp) c.1988C>A (p.Ala663Asp) c.1883C>A (p.Ala628Asp) | |
| 3 | g.122284425C= | CA1397872385 | CASR | c.2240C= (p.Ala747=) c.2501C= (p.Ala834=) c.2471C= (p.Ala824=) c.1988C= (p.Ala663=) c.1883C= (p.Ala628=) | |
| 3 | g.122284425C>G | CA354159998 | CASR | c.2240C>G (p.Ala747Gly) c.2501C>G (p.Ala834Gly) c.2471C>G (p.Ala824Gly) c.1988C>G (p.Ala663Gly) c.1883C>G (p.Ala628Gly) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284425C>T | CA354159999 | CASR | c.2240C>T (p.Ala747Val) c.2501C>T (p.Ala834Val) c.2471C>T (p.Ala824Val) c.1988C>T (p.Ala663Val) c.1883C>T (p.Ala628Val) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284426C>A | CA435425187 | CASR | c.2241C>A (p.Ala747=) c.2502C>A (p.Ala834=) c.2472C>A (p.Ala824=) c.1989C>A (p.Ala663=) c.1884C>A (p.Ala628=) | |
| 3 | g.122284426C>G | CA435425188 | CASR | c.2241C>G (p.Ala747=) c.2502C>G (p.Ala834=) c.2472C>G (p.Ala824=) c.1989C>G (p.Ala663=) c.1884C>G (p.Ala628=) | |
| 3 | g.122284426C>T | CA435425190 | CASR | c.2241C>T (p.Ala747=) c.2502C>T (p.Ala834=) c.2472C>T (p.Ala824=) c.1989C>T (p.Ala663=) c.1884C>T (p.Ala628=) | ClinVar dbSNP COSMIC |
| 3 | g.122284427T>A | CA354160000 | CASR | c.2242T>A (p.Tyr748Asn) c.2503T>A (p.Tyr835Asn) c.2473T>A (p.Tyr825Asn) c.1990T>A (p.Tyr664Asn) c.1885T>A (p.Tyr629Asn) | |
| 3 | g.122284427T>C | CA354160002 | CASR | c.2242T>C (p.Tyr748His) c.2503T>C (p.Tyr835His) c.2473T>C (p.Tyr825His) c.1990T>C (p.Tyr664His) c.1885T>C (p.Tyr629His) | |
| 3 | g.122284427T>G | CA354160004 | CASR | c.2242T>G (p.Tyr748Asp) c.2503T>G (p.Tyr835Asp) c.2473T>G (p.Tyr825Asp) c.1990T>G (p.Tyr664Asp) c.1885T>G (p.Tyr629Asp) | |
| 3 | g.122284428A= | CA1397872387 | CASR | c.2243A= (p.Tyr748=) c.2504A= (p.Tyr835=) c.2474A= (p.Tyr825=) c.1991A= (p.Tyr664=) c.1886A= (p.Tyr629=) | |
| 3 | g.122284428A>C | CA354160006 | CASR | c.2243A>C (p.Tyr748Ser) c.2504A>C (p.Tyr835Ser) c.2474A>C (p.Tyr825Ser) c.1991A>C (p.Tyr664Ser) c.1886A>C (p.Tyr629Ser) | |
| 3 | g.122284428A>G | CA2569829 | CASR | c.2243A>G (p.Tyr748Cys) c.2504A>G (p.Tyr835Cys) c.2474A>G (p.Tyr825Cys) c.1991A>G (p.Tyr664Cys) c.1886A>G (p.Tyr629Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284428A>T | CA354160010 | CASR | c.2243A>T (p.Tyr748Phe) c.2504A>T (p.Tyr835Phe) c.2474A>T (p.Tyr825Phe) c.1991A>T (p.Tyr664Phe) c.1886A>T (p.Tyr629Phe) | |
| 3 | g.122284429T>A | CA354160011 | CASR | c.2244T>A (p.Tyr748Ter) c.2505T>A (p.Tyr835Ter) c.2475T>A (p.Tyr825Ter) c.1992T>A (p.Tyr664Ter) c.1887T>A (p.Tyr629Ter) | |
| 3 | g.122284429T>C | CA435425194 | CASR | c.2244T>C (p.Tyr748=) c.2505T>C (p.Tyr835=) c.2475T>C (p.Tyr825=) c.1992T>C (p.Tyr664=) c.1887T>C (p.Tyr629=) | ClinVar |
| 3 | g.122284429T>G | CA354160012 | CASR | c.2244T>G (p.Tyr748Ter) c.2505T>G (p.Tyr835Ter) c.2475T>G (p.Tyr825Ter) c.1992T>G (p.Tyr664Ter) c.1887T>G (p.Tyr629Ter) | |
| 3 | g.122284430G>A | CA354160013 | CASR | c.2245G>A (p.Ala749Thr) c.2506G>A (p.Ala836Thr) c.2476G>A (p.Ala826Thr) c.1993G>A (p.Ala665Thr) c.1888G>A (p.Ala630Thr) | |
| 3 | g.122284430G>C | CA354160014 | CASR | c.2245G>C (p.Ala749Pro) c.2506G>C (p.Ala836Pro) c.2476G>C (p.Ala826Pro) c.1993G>C (p.Ala665Pro) c.1888G>C (p.Ala630Pro) | |
| 3 | g.122284430G>T | CA354160016 | CASR | c.2245G>T (p.Ala749Ser) c.2506G>T (p.Ala836Ser) c.2476G>T (p.Ala826Ser) c.1993G>T (p.Ala665Ser) c.1888G>T (p.Ala630Ser) | |
| 3 | g.122284431C>A | CA354160018 | CASR | c.2246C>A (p.Ala749Asp) c.2507C>A (p.Ala836Asp) c.2477C>A (p.Ala826Asp) c.1994C>A (p.Ala665Asp) c.1889C>A (p.Ala630Asp) | |
| 3 | g.122284431C= | CA1397872390 | CASR | c.2246C= (p.Ala749=) c.2507C= (p.Ala836=) c.2477C= (p.Ala826=) c.1994C= (p.Ala665=) c.1889C= (p.Ala630=) | |
| 3 | g.122284431C>G | CA354160020 | CASR | c.2246C>G (p.Ala749Gly) c.2507C>G (p.Ala836Gly) c.2477C>G (p.Ala826Gly) c.1994C>G (p.Ala665Gly) c.1889C>G (p.Ala630Gly) | ClinVar dbSNP |
| 3 | g.122284431C>T | CA354160022 | CASR | c.2246C>T (p.Ala749Val) c.2507C>T (p.Ala836Val) c.2477C>T (p.Ala826Val) c.1994C>T (p.Ala665Val) c.1889C>T (p.Ala630Val) | ClinVar dbSNP |
| 3 | g.122284432C>A | CA435425197 | CASR | c.2247C>A (p.Ala749=) c.2508C>A (p.Ala836=) c.2478C>A (p.Ala826=) c.1995C>A (p.Ala665=) c.1890C>A (p.Ala630=) | |
| 3 | g.122284432C>G | CA435425201 | CASR | c.2247C>G (p.Ala749=) c.2508C>G (p.Ala836=) c.2478C>G (p.Ala826=) c.1995C>G (p.Ala665=) c.1890C>G (p.Ala630=) | |
| 3 | g.122284432C>T | CA435425204 | CASR | c.2247C>T (p.Ala749=) c.2508C>T (p.Ala836=) c.2478C>T (p.Ala826=) c.1995C>T (p.Ala665=) c.1890C>T (p.Ala630=) | |
| 3 | g.122284433A>C | CA354160028 | CASR | c.2248A>C (p.Ser750Arg) c.2509A>C (p.Ser837Arg) c.2479A>C (p.Ser827Arg) c.1996A>C (p.Ser666Arg) c.1891A>C (p.Ser631Arg) | |
| 3 | g.122284433A>G | CA354160024 | CASR | c.2248A>G (p.Ser750Gly) c.2509A>G (p.Ser837Gly) c.2479A>G (p.Ser827Gly) c.1996A>G (p.Ser666Gly) c.1891A>G (p.Ser631Gly) | |
| 3 | g.122284433A>T | CA354160026 | CASR | c.2248A>T (p.Ser750Cys) c.2509A>T (p.Ser837Cys) c.2479A>T (p.Ser827Cys) c.1996A>T (p.Ser666Cys) c.1891A>T (p.Ser631Cys) | |
| 3 | g.122284434G>A | CA354160030 | CASR | c.2249G>A (p.Ser750Asn) c.2510G>A (p.Ser837Asn) c.2480G>A (p.Ser827Asn) c.1997G>A (p.Ser666Asn) c.1892G>A (p.Ser631Asn) | ClinVar |
| 3 | g.122284434G>C | CA354160032 | CASR | c.2249G>C (p.Ser750Thr) c.2510G>C (p.Ser837Thr) c.2480G>C (p.Ser827Thr) c.1997G>C (p.Ser666Thr) c.1892G>C (p.Ser631Thr) | |
| 3 | g.122284434G>T | CA354160034 | CASR | c.2249G>T (p.Ser750Ile) c.2510G>T (p.Ser837Ile) c.2480G>T (p.Ser827Ile) c.1997G>T (p.Ser666Ile) c.1892G>T (p.Ser631Ile) | |
| 3 | g.122284435C>A | CA354160036 | CASR | c.2250C>A (p.Ser750Arg) c.2511C>A (p.Ser837Arg) c.2481C>A (p.Ser827Arg) c.1998C>A (p.Ser666Arg) c.1893C>A (p.Ser631Arg) | |
| 3 | g.122284435C>G | CA354160038 | CASR | c.2250C>G (p.Ser750Arg) c.2511C>G (p.Ser837Arg) c.2481C>G (p.Ser827Arg) c.1998C>G (p.Ser666Arg) c.1893C>G (p.Ser631Arg) | |
| 3 | g.122284435C>T | CA435425208 | CASR | c.2250C>T (p.Ser750=) c.2511C>T (p.Ser837=) c.2481C>T (p.Ser827=) c.1998C>T (p.Ser666=) c.1893C>T (p.Ser631=) | |
| 3 | g.122284436A= | CA1397872393 | CASR | c.2251A= (p.Thr751=) c.2512A= (p.Thr838=) c.2482A= (p.Thr828=) c.1999A= (p.Thr667=) c.1894A= (p.Thr632=) |