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.122283921T>A | CA354158190 | CASR | c.1736T>A (p.Phe579Tyr) c.1997T>A (p.Phe666Tyr) c.1967T>A (p.Phe656Tyr) c.1484T>A (p.Phe495Tyr) c.1379T>A (p.Phe460Tyr) | |
| 3 | g.122283921T>C | CA354158192 | CASR | c.1736T>C (p.Phe579Ser) c.1997T>C (p.Phe666Ser) c.1967T>C (p.Phe656Ser) c.1484T>C (p.Phe495Ser) c.1379T>C (p.Phe460Ser) | |
| 3 | g.122283921T>G | CA354158193 | CASR | c.1736T>G (p.Phe579Cys) c.1997T>G (p.Phe666Cys) c.1967T>G (p.Phe656Cys) c.1484T>G (p.Phe495Cys) c.1379T>G (p.Phe460Cys) | |
| 3 | g.122283922C>A | CA354158196 | CASR | c.1737C>A (p.Phe579Leu) c.1998C>A (p.Phe666Leu) c.1968C>A (p.Phe656Leu) c.1485C>A (p.Phe495Leu) c.1380C>A (p.Phe460Leu) | ClinVar dbSNP |
| 3 | g.122283922C= | CA1397871280 | CASR | c.1737C= (p.Phe579=) c.1998C= (p.Phe666=) c.1968C= (p.Phe656=) c.1485C= (p.Phe495=) c.1380C= (p.Phe460=) | |
| 3 | g.122283922C>G | CA354158198 | CASR | c.1737C>G (p.Phe579Leu) c.1998C>G (p.Phe666Leu) c.1968C>G (p.Phe656Leu) c.1485C>G (p.Phe495Leu) c.1380C>G (p.Phe460Leu) | |
| 3 | g.122283922C>T | CA435424840 | CASR | c.1737C>T (p.Phe579=) c.1998C>T (p.Phe666=) c.1968C>T (p.Phe656=) c.1485C>T (p.Phe495=) c.1380C>T (p.Phe460=) | ClinVar |
| 3 | g.122283923T>A | CA354158201 | CASR | c.1738T>A (p.Ser580Thr) c.1999T>A (p.Ser667Thr) c.1969T>A (p.Ser657Thr) c.1486T>A (p.Ser496Thr) c.1381T>A (p.Ser461Thr) | |
| 3 | g.122283923T>C | CA354158203 | CASR | c.1738T>C (p.Ser580Pro) c.1999T>C (p.Ser667Pro) c.1969T>C (p.Ser657Pro) c.1486T>C (p.Ser496Pro) c.1381T>C (p.Ser461Pro) | |
| 3 | g.122283923T>G | CA354158199 | CASR | c.1738T>G (p.Ser580Ala) c.1999T>G (p.Ser667Ala) c.1969T>G (p.Ser657Ala) c.1486T>G (p.Ser496Ala) c.1381T>G (p.Ser461Ala) | |
| 3 | g.122283923_122283924delinsTC | CA1397871282 | CASR | c.1738_1739delinsTC (p.Ser580=) c.1999_2000delinsTC (p.Ser667=) c.1969_1970delinsTC (p.Ser657=) c.1486_1487delinsTC (p.Ser496=) c.1381_1382delinsTC (p.Ser461=) | |
| 3 | g.122283924C>A | CA354158205 | CASR | c.1739C>A (p.Ser580Tyr) c.2000C>A (p.Ser667Tyr) c.1970C>A (p.Ser657Tyr) c.1487C>A (p.Ser496Tyr) c.1382C>A (p.Ser461Tyr) | ClinVar |
| 3 | g.122283924C>G | CA354158207 | CASR | c.1739C>G (p.Ser580Cys) c.2000C>G (p.Ser667Cys) c.1970C>G (p.Ser657Cys) c.1487C>G (p.Ser496Cys) c.1382C>G (p.Ser461Cys) | |
| 3 | g.122283924C>T | CA354158209 | CASR | c.1739C>T (p.Ser580Phe) c.2000C>T (p.Ser667Phe) c.1970C>T (p.Ser657Phe) c.1487C>T (p.Ser496Phe) c.1382C>T (p.Ser461Phe) | |
| 3 | g.122283926del | CA658657328 | CASR | c.1741del (p.Leu581CysfsTer?) c.2002del (p.Leu668CysfsTer?) c.1972del (p.Leu658CysfsTer?) c.1489del (p.Leu497CysfsTer?) c.1384del (p.Leu462CysfsTer?) | ClinVar dbSNP |
| 3 | g.122283925C>A | CA435424845 | CASR | c.1740C>A (p.Ser580=) c.2001C>A (p.Ser667=) c.1971C>A (p.Ser657=) c.1488C>A (p.Ser496=) c.1383C>A (p.Ser461=) | |
| 3 | g.122283925C>G | CA435424846 | CASR | c.1740C>G (p.Ser580=) c.2001C>G (p.Ser667=) c.1971C>G (p.Ser657=) c.1488C>G (p.Ser496=) c.1383C>G (p.Ser461=) | |
| 3 | g.122283925C>T | CA435424847 | CASR | c.1740C>T (p.Ser580=) c.2001C>T (p.Ser667=) c.1971C>T (p.Ser657=) c.1488C>T (p.Ser496=) c.1383C>T (p.Ser461=) | |
| 3 | g.122283926C>A | CA82748681 | CASR | c.1741C>A (p.Leu581Met) c.2002C>A (p.Leu668Met) c.1972C>A (p.Leu658Met) c.1489C>A (p.Leu497Met) c.1384C>A (p.Leu462Met) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122283926C= | CA1397871293 | CASR | c.1741C= (p.Leu581=) c.2002C= (p.Leu668=) c.1972C= (p.Leu658=) c.1489C= (p.Leu497=) c.1384C= (p.Leu462=) | |
| 3 | g.122283926C>G | CA354158211 | CASR | c.1741C>G (p.Leu581Val) c.2002C>G (p.Leu668Val) c.1972C>G (p.Leu658Val) c.1489C>G (p.Leu497Val) c.1384C>G (p.Leu462Val) | |
| 3 | g.122283926C>T | CA435424849 | CASR | c.1741C>T (p.Leu581=) c.2002C>T (p.Leu668=) c.1972C>T (p.Leu658=) c.1489C>T (p.Leu497=) c.1384C>T (p.Leu462=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122283927T>A | CA354158212 | CASR | c.1742T>A (p.Leu581Gln) c.2003T>A (p.Leu668Gln) c.1973T>A (p.Leu658Gln) c.1490T>A (p.Leu497Gln) c.1385T>A (p.Leu462Gln) | |
| 3 | g.122283927T>C | CA354158213 | CASR | c.1742T>C (p.Leu581Pro) c.2003T>C (p.Leu668Pro) c.1973T>C (p.Leu658Pro) c.1490T>C (p.Leu497Pro) c.1385T>C (p.Leu462Pro) | ClinVar |
| 3 | g.122283927T>G | CA354158214 | CASR | c.1742T>G (p.Leu581Arg) c.2003T>G (p.Leu668Arg) c.1973T>G (p.Leu658Arg) c.1490T>G (p.Leu497Arg) c.1385T>G (p.Leu462Arg) | |
| 3 | g.122283928G>A | CA435424850 | CASR | c.1743G>A (p.Leu581=) c.2004G>A (p.Leu668=) c.1974G>A (p.Leu658=) c.1491G>A (p.Leu497=) c.1386G>A (p.Leu462=) | ClinVar |
| 3 | g.122283928G>C | CA435424851 | CASR | c.1743G>C (p.Leu581=) c.2004G>C (p.Leu668=) c.1974G>C (p.Leu658=) c.1491G>C (p.Leu497=) c.1386G>C (p.Leu462=) | |
| 3 | g.122283928G= | CA1397871299 | CASR | c.1743G= (p.Leu581=) c.2004G= (p.Leu668=) c.1974G= (p.Leu658=) c.1491G= (p.Leu497=) c.1386G= (p.Leu462=) | |
| 3 | g.122283928G>T | CA2569766 | CASR | c.1743G>T (p.Leu581=) c.2004G>T (p.Leu668=) c.1974G>T (p.Leu658=) c.1491G>T (p.Leu497=) c.1386G>T (p.Leu462=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122283929C>A | CA354158215 | CASR | c.1744C>A (p.Leu582Ile) c.2005C>A (p.Leu669Ile) c.1975C>A (p.Leu659Ile) c.1492C>A (p.Leu498Ile) c.1387C>A (p.Leu463Ile) | |
| 3 | g.122283929C>G | CA354158216 | CASR | c.1744C>G (p.Leu582Val) c.2005C>G (p.Leu669Val) c.1975C>G (p.Leu659Val) c.1492C>G (p.Leu498Val) c.1387C>G (p.Leu463Val) | |
| 3 | g.122283929C>T | CA354158217 | CASR | c.1744C>T (p.Leu582Phe) c.2005C>T (p.Leu669Phe) c.1975C>T (p.Leu659Phe) c.1492C>T (p.Leu498Phe) c.1387C>T (p.Leu463Phe) | |
| 3 | g.122283930T>A | CA354158219 | CASR | c.1745T>A (p.Leu582His) c.2006T>A (p.Leu669His) c.1976T>A (p.Leu659His) c.1493T>A (p.Leu498His) c.1388T>A (p.Leu463His) | |
| 3 | g.122283930T>C | CA354158220 | CASR | c.1745T>C (p.Leu582Pro) c.2006T>C (p.Leu669Pro) c.1976T>C (p.Leu659Pro) c.1493T>C (p.Leu498Pro) c.1388T>C (p.Leu463Pro) | gnomAD v4 |
| 3 | g.122283930T>G | CA354158218 | CASR | c.1745T>G (p.Leu582Arg) c.2006T>G (p.Leu669Arg) c.1976T>G (p.Leu659Arg) c.1493T>G (p.Leu498Arg) c.1388T>G (p.Leu463Arg) | |
| 3 | g.122283931C>A | CA435424856 | CASR | c.1746C>A (p.Leu582=) c.2007C>A (p.Leu669=) c.1977C>A (p.Leu659=) c.1494C>A (p.Leu498=) c.1389C>A (p.Leu463=) | |
| 3 | g.122283931C= | CA1397871307 | CASR | c.1746C= (p.Leu582=) c.2007C= (p.Leu669=) c.1977C= (p.Leu659=) c.1494C= (p.Leu498=) c.1389C= (p.Leu463=) | |
| 3 | g.122283931C>G | CA435424858 | CASR | c.1746C>G (p.Leu582=) c.2007C>G (p.Leu669=) c.1977C>G (p.Leu659=) c.1494C>G (p.Leu498=) c.1389C>G (p.Leu463=) | ClinVar dbSNP |
| 3 | g.122283931C>T | CA435424859 | CASR | c.1746C>T (p.Leu582=) c.2007C>T (p.Leu669=) c.1977C>T (p.Leu659=) c.1494C>T (p.Leu498=) c.1389C>T (p.Leu463=) | ClinVar dbSNP |
| 3 | g.122283932T>A | CA354158221 | CASR | c.1747T>A (p.Cys583Ser) c.2008T>A (p.Cys670Ser) c.1978T>A (p.Cys660Ser) c.1495T>A (p.Cys499Ser) c.1390T>A (p.Cys464Ser) | |
| 3 | g.122283932T>C | CA354158222 | CASR | c.1747T>C (p.Cys583Arg) c.2008T>C (p.Cys670Arg) c.1978T>C (p.Cys660Arg) c.1495T>C (p.Cys499Arg) c.1390T>C (p.Cys464Arg) | |
| 3 | g.122283932T>G | CA354158223 | CASR | c.1747T>G (p.Cys583Gly) c.2008T>G (p.Cys670Gly) c.1978T>G (p.Cys660Gly) c.1495T>G (p.Cys499Gly) c.1390T>G (p.Cys464Gly) | |
| 3 | g.122283933G>A | CA354158224 | CASR | c.1748G>A (p.Cys583Tyr) c.2009G>A (p.Cys670Tyr) c.1979G>A (p.Cys660Tyr) c.1496G>A (p.Cys499Tyr) c.1391G>A (p.Cys464Tyr) | ClinVar gnomAD v4 |
| 3 | g.122283933G>C | CA354158225 | CASR | c.1748G>C (p.Cys583Ser) c.2009G>C (p.Cys670Ser) c.1979G>C (p.Cys660Ser) c.1496G>C (p.Cys499Ser) c.1391G>C (p.Cys464Ser) | |
| 3 | g.122283933G>T | CA354158226 | CASR | c.1748G>T (p.Cys583Phe) c.2009G>T (p.Cys670Phe) c.1979G>T (p.Cys660Phe) c.1496G>T (p.Cys499Phe) c.1391G>T (p.Cys464Phe) | |
| 3 | g.122283934C>A | CA354158227 | CASR | c.1749C>A (p.Cys583Ter) c.2010C>A (p.Cys670Ter) c.1980C>A (p.Cys660Ter) c.1497C>A (p.Cys499Ter) c.1392C>A (p.Cys464Ter) | |
| 3 | g.122283934C= | CA1397871312 | CASR | c.1749C= (p.Cys583=) c.2010C= (p.Cys670=) c.1980C= (p.Cys660=) c.1497C= (p.Cys499=) c.1392C= (p.Cys464=) | |
| 3 | g.122283934C>G | CA354158228 | CASR | c.1749C>G (p.Cys583Trp) c.2010C>G (p.Cys670Trp) c.1980C>G (p.Cys660Trp) c.1497C>G (p.Cys499Trp) c.1392C>G (p.Cys464Trp) | |
| 3 | g.122283934C>T | CA435424863 | CASR | c.1749C>T (p.Cys583=) c.2010C>T (p.Cys670=) c.1980C>T (p.Cys660=) c.1497C>T (p.Cys499=) c.1392C>T (p.Cys464=) | ClinVar dbSNP |
| 3 | g.122283935T>A | CA354158229 | CASR | c.1750T>A (p.Cys584Ser) c.2011T>A (p.Cys671Ser) c.1981T>A (p.Cys661Ser) c.1498T>A (p.Cys500Ser) c.1393T>A (p.Cys465Ser) | ClinVar dbSNP |