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 |
|---|---|---|---|---|---|
| 1 | g.99864402T>A | CA341334769 | AGL | c.477T>A (p.His159Gln) n.688T>A c.429T>A (p.His143Gln) c.426T>A (p.His142Gln) | |
| 1 | g.99864402T>C | CA419096008 | AGL | c.477T>C (p.His159=) n.688T>C c.429T>C (p.His143=) c.426T>C (p.His142=) | |
| 1 | g.99864402T>G | CA966199 | AGL | c.477T>G (p.His159Gln) n.688T>G c.429T>G (p.His143Gln) c.426T>G (p.His142Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99864402T= | CA1183926403 | AGL | c.477T= (p.His159=) n.688T= c.429T= (p.His143=) c.426T= (p.His142=) | |
| 1 | g.99864403T>A | CA341334775 | AGL | c.478T>A (p.Phe160Ile) n.689T>A c.430T>A (p.Phe144Ile) c.427T>A (p.Phe143Ile) | |
| 1 | g.99864403T>C | CA341334788 | AGL | c.478T>C (p.Phe160Leu) n.689T>C c.430T>C (p.Phe144Leu) c.427T>C (p.Phe143Leu) | |
| 1 | g.99864403T>G | CA341334794 | AGL | c.478T>G (p.Phe160Val) n.689T>G c.430T>G (p.Phe144Val) c.427T>G (p.Phe143Val) | |
| 1 | g.99864404T>A | CA341334796 | AGL | c.479T>A (p.Phe160Tyr) n.690T>A c.431T>A (p.Phe144Tyr) c.428T>A (p.Phe143Tyr) | |
| 1 | g.99864404T>C | CA341334798 | AGL | c.479T>C (p.Phe160Ser) n.690T>C c.431T>C (p.Phe144Ser) c.428T>C (p.Phe143Ser) | |
| 1 | g.99864404T>G | CA341334802 | AGL | c.479T>G (p.Phe160Cys) n.690T>G c.431T>G (p.Phe144Cys) c.428T>G (p.Phe143Cys) | |
| 1 | g.99864405T>A | CA341334807 | AGL | c.480T>A (p.Phe160Leu) n.691T>A c.432T>A (p.Phe144Leu) c.429T>A (p.Phe143Leu) | |
| 1 | g.99864405T>C | CA419096013 | AGL | c.480T>C (p.Phe160=) n.691T>C c.432T>C (p.Phe144=) c.429T>C (p.Phe143=) | ClinVar gnomAD v4 |
| 1 | g.99864405T>G | CA341334808 | AGL | c.480T>G (p.Phe160Leu) n.691T>G c.432T>G (p.Phe144Leu) c.429T>G (p.Phe143Leu) | |
| 1 | g.99864406A>C | CA341334826 | AGL | c.481A>C (p.Thr161Pro) n.692A>C c.433A>C (p.Thr145Pro) c.430A>C (p.Thr144Pro) | |
| 1 | g.99864406A>G | CA341334812 | AGL | c.481A>G (p.Thr161Ala) n.692A>G c.433A>G (p.Thr145Ala) c.430A>G (p.Thr144Ala) | |
| 1 | g.99864406A>T | CA341334815 | AGL | c.481A>T (p.Thr161Ser) n.692A>T c.433A>T (p.Thr145Ser) c.430A>T (p.Thr144Ser) | |
| 1 | g.99864407C>A | CA341334834 | AGL | c.482C>A (p.Thr161Asn) n.693C>A c.434C>A (p.Thr145Asn) c.431C>A (p.Thr144Asn) | |
| 1 | g.99864407C>G | CA341334836 | AGL | c.482C>G (p.Thr161Ser) n.693C>G c.434C>G (p.Thr145Ser) c.431C>G (p.Thr144Ser) | |
| 1 | g.99864407C>T | CA341334839 | AGL | c.482C>T (p.Thr161Ile) n.693C>T c.434C>T (p.Thr145Ile) c.431C>T (p.Thr144Ile) | |
| 1 | g.99864408C>A | CA419096018 | AGL | c.483C>A (p.Thr161=) n.694C>A c.435C>A (p.Thr145=) c.432C>A (p.Thr144=) | ClinVar |
| 1 | g.99864408C>G | CA419096019 | AGL | c.483C>G (p.Thr161=) n.694C>G c.435C>G (p.Thr145=) c.432C>G (p.Thr144=) | |
| 1 | g.99864408C>T | CA419096020 | AGL | c.483C>T (p.Thr161=) n.694C>T c.435C>T (p.Thr145=) c.432C>T (p.Thr144=) | |
| 1 | g.99864409C>A | CA341334845 | AGL | c.484C>A (p.Pro162Thr) n.695C>A c.436C>A (p.Pro146Thr) c.433C>A (p.Pro145Thr) | |
| 1 | g.99864409C>G | CA341334848 | AGL | c.484C>G (p.Pro162Ala) n.695C>G c.436C>G (p.Pro146Ala) c.433C>G (p.Pro145Ala) | |
| 1 | g.99864409C>T | CA341334849 | AGL | c.484C>T (p.Pro162Ser) n.695C>T c.436C>T (p.Pro146Ser) c.433C>T (p.Pro145Ser) | |
| 1 | g.99864410C>A | CA341334853 | AGL | c.485C>A (p.Pro162Gln) n.696C>A c.437C>A (p.Pro146Gln) c.434C>A (p.Pro145Gln) | |
| 1 | g.99864410C>G | CA341334854 | AGL | c.485C>G (p.Pro162Arg) n.696C>G c.437C>G (p.Pro146Arg) c.434C>G (p.Pro145Arg) | |
| 1 | g.99864410C>T | CA341334856 | AGL | c.485C>T (p.Pro162Leu) n.696C>T c.437C>T (p.Pro146Leu) c.434C>T (p.Pro145Leu) | COSMIC |
| 1 | g.99864411A= | CA1183926406 | AGL | c.486A= (p.Pro162=) n.697A= c.438A= (p.Pro146=) c.435A= (p.Pro145=) | |
| 1 | g.99864411A>C | CA419096025 | AGL | c.486A>C (p.Pro162=) n.697A>C c.438A>C (p.Pro146=) c.435A>C (p.Pro145=) | |
| 1 | g.99864411A>G | CA419096027 | AGL | c.486A>G (p.Pro162=) n.697A>G c.438A>G (p.Pro146=) c.435A>G (p.Pro145=) | ClinVar dbSNP |
| 1 | g.99864411A>T | CA419096026 | AGL | c.486A>T (p.Pro162=) n.697A>T c.438A>T (p.Pro146=) c.435A>T (p.Pro145=) | |
| 1 | g.99864412T>A | CA341334860 | AGL | c.487T>A (p.Leu163Met) n.698T>A c.439T>A (p.Leu147Met) c.436T>A (p.Leu146Met) | |
| 1 | g.99864412T>C | CA966200 | AGL | c.487T>C (p.Leu163=) n.698T>C c.439T>C (p.Leu147=) c.436T>C (p.Leu146=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99864412T>G | CA341334872 | AGL | c.487T>G (p.Leu163Val) n.698T>G c.439T>G (p.Leu147Val) c.436T>G (p.Leu146Val) | |
| 1 | g.99864412T= | CA1149148418 | AGL | c.487T= (p.Leu163=) n.698T= c.439T= (p.Leu147=) c.436T= (p.Leu146=) | |
| 1 | g.99864413T>A | CA341334879 | AGL | c.488T>A (p.Leu163Ter) n.699T>A c.440T>A (p.Leu147Ter) c.437T>A (p.Leu146Ter) | |
| 1 | g.99864413T>C | CA341334885 | AGL | c.488T>C (p.Leu163Ser) n.699T>C c.440T>C (p.Leu147Ser) c.437T>C (p.Leu146Ser) | |
| 1 | g.99864413T>G | CA341334884 | AGL | c.488T>G (p.Leu163Trp) n.699T>G c.440T>G (p.Leu147Trp) c.437T>G (p.Leu146Trp) | |
| 1 | g.99864414G>A | CA419096032 | AGL | c.489G>A (p.Leu163=) n.700G>A c.441G>A (p.Leu147=) c.438G>A (p.Leu146=) | |
| 1 | g.99864414G>C | CA341334886 | AGL | c.489G>C (p.Leu163Phe) n.700G>C c.441G>C (p.Leu147Phe) c.438G>C (p.Leu146Phe) | |
| 1 | g.99864414G>T | CA341334887 | AGL | c.489G>T (p.Leu163Phe) n.700G>T c.441G>T (p.Leu147Phe) c.438G>T (p.Leu146Phe) | gnomAD v4 |
| 1 | g.99864415C>A | CA341334889 | AGL | c.490C>A (p.Gln164Lys) n.701C>A c.442C>A (p.Gln148Lys) c.439C>A (p.Gln147Lys) | |
| 1 | g.99864415C= | CA1183926415 | AGL | c.490C= (p.Gln164=) n.701C= c.442C= (p.Gln148=) c.439C= (p.Gln147=) | |
| 1 | g.99864415C>G | CA341334894 | AGL | c.490C>G (p.Gln164Glu) n.701C>G c.442C>G (p.Gln148Glu) c.439C>G (p.Gln147Glu) | |
| 1 | g.99864415C>T | CA341334910 | AGL | c.490C>T (p.Gln164Ter) n.701C>T c.442C>T (p.Gln148Ter) c.439C>T (p.Gln147Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99864416A>C | CA341334918 | AGL | c.491A>C (p.Gln164Pro) n.702A>C c.443A>C (p.Gln148Pro) c.440A>C (p.Gln147Pro) | |
| 1 | g.99864416A>G | CA341334980 | AGL | c.491A>G (p.Gln164Arg) n.702A>G c.443A>G (p.Gln148Arg) c.440A>G (p.Gln147Arg) | |
| 1 | g.99864416A>T | CA341335008 | AGL | c.491A>T (p.Gln164Leu) n.702A>T c.443A>T (p.Gln148Leu) c.440A>T (p.Gln147Leu) | |
| 1 | g.99864417G>A | CA419096035 | AGL | c.492G>A (p.Gln164=) n.703G>A c.444G>A (p.Gln148=) c.441G>A (p.Gln147=) |