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.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.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 |
| 3 | g.122283935T>C | CA354158230 | CASR | c.1750T>C (p.Cys584Arg) c.2011T>C (p.Cys671Arg) c.1981T>C (p.Cys661Arg) c.1498T>C (p.Cys500Arg) c.1393T>C (p.Cys465Arg) | |
| 3 | g.122283935T>G | CA354158231 | CASR | c.1750T>G (p.Cys584Gly) c.2011T>G (p.Cys671Gly) c.1981T>G (p.Cys661Gly) c.1498T>G (p.Cys500Gly) c.1393T>G (p.Cys465Gly) | |
| 3 | g.122283936G>A | CA354158232 | CASR | c.1751G>A (p.Cys584Tyr) c.2012G>A (p.Cys671Tyr) c.1982G>A (p.Cys661Tyr) c.1499G>A (p.Cys500Tyr) c.1394G>A (p.Cys465Tyr) | |
| 3 | g.122283936G>C | CA354158233 | CASR | c.1751G>C (p.Cys584Ser) c.2012G>C (p.Cys671Ser) c.1982G>C (p.Cys661Ser) c.1499G>C (p.Cys500Ser) c.1394G>C (p.Cys465Ser) | |
| 3 | g.122283936G>T | CA354158234 | CASR | c.1751G>T (p.Cys584Phe) c.2012G>T (p.Cys671Phe) c.1982G>T (p.Cys661Phe) c.1499G>T (p.Cys500Phe) c.1394G>T (p.Cys465Phe) | |
| 3 | g.122283937C>A | CA354158235 | CASR | c.1752C>A (p.Cys584Ter) c.2013C>A (p.Cys671Ter) c.1983C>A (p.Cys661Ter) c.1500C>A (p.Cys500Ter) c.1395C>A (p.Cys465Ter) | ClinVar dbSNP |
| 3 | g.122283937C= | CA1397871315 | CASR | c.1752C= (p.Cys584=) c.2013C= (p.Cys671=) c.1983C= (p.Cys661=) c.1500C= (p.Cys500=) c.1395C= (p.Cys465=) | |
| 3 | g.122283937C>G | CA354158236 | CASR | c.1752C>G (p.Cys584Trp) c.2013C>G (p.Cys671Trp) c.1983C>G (p.Cys661Trp) c.1500C>G (p.Cys500Trp) c.1395C>G (p.Cys465Trp) | |
| 3 | g.122283937C>T | CA435424869 | CASR | c.1752C>T (p.Cys584=) c.2013C>T (p.Cys671=) c.1983C>T (p.Cys661=) c.1500C>T (p.Cys500=) c.1395C>T (p.Cys465=) | gnomAD v4 |
| 3 | g.122283938T>A | CA354158237 | CASR | c.1753T>A (p.Phe585Ile) c.2014T>A (p.Phe672Ile) c.1984T>A (p.Phe662Ile) c.1501T>A (p.Phe501Ile) c.1396T>A (p.Phe466Ile) | |
| 3 | g.122283938T>C | CA82748682 | CASR | c.1753T>C (p.Phe585Leu) c.2014T>C (p.Phe672Leu) c.1984T>C (p.Phe662Leu) c.1501T>C (p.Phe501Leu) c.1396T>C (p.Phe466Leu) | dbSNP |
| 3 | g.122283938T>G | CA354158238 | CASR | c.1753T>G (p.Phe585Val) c.2014T>G (p.Phe672Val) c.1984T>G (p.Phe662Val) c.1501T>G (p.Phe501Val) c.1396T>G (p.Phe466Val) | ClinVar |
| 3 | g.122283938T= | CA1397871320 | CASR | c.1753T= (p.Phe585=) c.2014T= (p.Phe672=) c.1984T= (p.Phe662=) c.1501T= (p.Phe501=) c.1396T= (p.Phe466=) | |
| 3 | g.122283939T>A | CA354158239 | CASR | c.1754T>A (p.Phe585Tyr) c.2015T>A (p.Phe672Tyr) c.1985T>A (p.Phe662Tyr) c.1502T>A (p.Phe501Tyr) c.1397T>A (p.Phe466Tyr) | |
| 3 | g.122283939T>C | CA354158241 | CASR | c.1754T>C (p.Phe585Ser) c.2015T>C (p.Phe672Ser) c.1985T>C (p.Phe662Ser) c.1502T>C (p.Phe501Ser) c.1397T>C (p.Phe466Ser) | |
| 3 | g.122283939T>G | CA354158240 | CASR | c.1754T>G (p.Phe585Cys) c.2015T>G (p.Phe672Cys) c.1985T>G (p.Phe662Cys) c.1502T>G (p.Phe501Cys) c.1397T>G (p.Phe466Cys) | |
| 3 | g.122283940C>A | CA354158242 | CASR | c.1755C>A (p.Phe585Leu) c.2016C>A (p.Phe672Leu) c.1986C>A (p.Phe662Leu) c.1503C>A (p.Phe501Leu) c.1398C>A (p.Phe466Leu) |