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.99891345A>C | CA341325379 | AGL | c.2938A>C (p.Thr980Pro) n.3149A>C c.2890A>C (p.Thr964Pro) c.2887A>C (p.Thr963Pro) c.1198A>C (p.Thr400Pro) | |
| 1 | g.99891345A>G | CA341325381 | AGL | c.2938A>G (p.Thr980Ala) n.3149A>G c.2890A>G (p.Thr964Ala) c.2887A>G (p.Thr963Ala) c.1198A>G (p.Thr400Ala) | |
| 1 | g.99891345A>T | CA341325384 | AGL | c.2938A>T (p.Thr980Ser) n.3149A>T c.2890A>T (p.Thr964Ser) c.2887A>T (p.Thr963Ser) c.1198A>T (p.Thr400Ser) | |
| 1 | g.99891346C>A | CA341325388 | AGL | c.2939C>A (p.Thr980Asn) n.3150C>A c.2891C>A (p.Thr964Asn) c.2888C>A (p.Thr963Asn) c.1199C>A (p.Thr400Asn) | |
| 1 | g.99891346C>G | CA341325392 | AGL | c.2939C>G (p.Thr980Ser) n.3150C>G c.2891C>G (p.Thr964Ser) c.2888C>G (p.Thr963Ser) c.1199C>G (p.Thr400Ser) | |
| 1 | g.99891346C>T | CA341325393 | AGL | c.2939C>T (p.Thr980Ile) n.3150C>T c.2891C>T (p.Thr964Ile) c.2888C>T (p.Thr963Ile) c.1199C>T (p.Thr400Ile) | |
| 1 | g.99891347T>A | CA419314508 | AGL | c.2940T>A (p.Thr980=) n.3151T>A c.2892T>A (p.Thr964=) c.2889T>A (p.Thr963=) c.1200T>A (p.Thr400=) | gnomAD v4 |
| 1 | g.99891347T>C | CA419314509 | AGL | c.2940T>C (p.Thr980=) n.3151T>C c.2892T>C (p.Thr964=) c.2889T>C (p.Thr963=) c.1200T>C (p.Thr400=) | |
| 1 | g.99891347T>G | CA419314510 | AGL | c.2940T>G (p.Thr980=) n.3151T>G c.2892T>G (p.Thr964=) c.2889T>G (p.Thr963=) c.1200T>G (p.Thr400=) | |
| 1 | g.99891348A= | CA1142273929 | AGL | c.2941A= (p.Ile981=) n.3152A= c.2893A= (p.Ile965=) c.2890A= (p.Ile964=) c.1201A= (p.Ile401=) | |
| 1 | g.99891348A>C | CA341325395 | AGL | c.2941A>C (p.Ile981Leu) n.3152A>C c.2893A>C (p.Ile965Leu) c.2890A>C (p.Ile964Leu) c.1201A>C (p.Ile401Leu) | |
| 1 | g.99891348A>G | CA966934 | AGL | c.2941A>G (p.Ile981Val) n.3152A>G c.2893A>G (p.Ile965Val) c.2890A>G (p.Ile964Val) c.1201A>G (p.Ile401Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99891348A>T | CA341325398 | AGL | c.2941A>T (p.Ile981Phe) n.3152A>T c.2893A>T (p.Ile965Phe) c.2890A>T (p.Ile964Phe) c.1201A>T (p.Ile401Phe) | dbSNP |
| 1 | g.99891349T>A | CA341325399 | AGL | c.2942T>A (p.Ile981Asn) n.3153T>A c.2894T>A (p.Ile965Asn) c.2891T>A (p.Ile964Asn) c.1202T>A (p.Ile401Asn) | |
| 1 | g.99891349T>C | CA27526484 | AGL | c.2942T>C (p.Ile981Thr) n.3153T>C c.2894T>C (p.Ile965Thr) c.2891T>C (p.Ile964Thr) c.1202T>C (p.Ile401Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99891349T>G | CA341325402 | AGL | c.2942T>G (p.Ile981Ser) n.3153T>G c.2894T>G (p.Ile965Ser) c.2891T>G (p.Ile964Ser) c.1202T>G (p.Ile401Ser) | |
| 1 | g.99891349T= | CA1141610775 | AGL | c.2942T= (p.Ile981=) n.3153T= c.2894T= (p.Ile965=) c.2891T= (p.Ile964=) c.1202T= (p.Ile401=) | |
| 1 | g.99891350T>A | CA419314511 | AGL | c.2943T>A (p.Ile981=) n.3154T>A c.2895T>A (p.Ile965=) c.2892T>A (p.Ile964=) c.1203T>A (p.Ile401=) | |
| 1 | g.99891350T>C | CA419314512 | AGL | c.2943T>C (p.Ile981=) n.3154T>C c.2895T>C (p.Ile965=) c.2892T>C (p.Ile964=) c.1203T>C (p.Ile401=) | |
| 1 | g.99891350T>G | CA341325405 | AGL | c.2943T>G (p.Ile981Met) n.3154T>G c.2895T>G (p.Ile965Met) c.2892T>G (p.Ile964Met) c.1203T>G (p.Ile401Met) | |
| 1 | g.99891351G>A | CA966935 | AGL | c.2944G>A (p.Ala982Thr) n.3155G>A c.2896G>A (p.Ala966Thr) c.2893G>A (p.Ala965Thr) c.1204G>A (p.Ala402Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99891351G>C | CA341325409 | AGL | c.2944G>C (p.Ala982Pro) n.3155G>C c.2896G>C (p.Ala966Pro) c.2893G>C (p.Ala965Pro) c.1204G>C (p.Ala402Pro) | |
| 1 | g.99891351G= | CA1183933253 | AGL | c.2944G= (p.Ala982=) n.3155G= c.2896G= (p.Ala966=) c.2893G= (p.Ala965=) c.1204G= (p.Ala402=) | |
| 1 | g.99891351G>T | CA341325410 | AGL | c.2944G>T (p.Ala982Ser) n.3155G>T c.2896G>T (p.Ala966Ser) c.2893G>T (p.Ala965Ser) c.1204G>T (p.Ala402Ser) | |
| 1 | g.99891352C>A | CA341325413 | AGL | c.2945C>A (p.Ala982Asp) n.3156C>A c.2897C>A (p.Ala966Asp) c.2894C>A (p.Ala965Asp) c.1205C>A (p.Ala402Asp) | |
| 1 | g.99891352C>G | CA341325420 | AGL | c.2945C>G (p.Ala982Gly) n.3156C>G c.2897C>G (p.Ala966Gly) c.2894C>G (p.Ala965Gly) c.1205C>G (p.Ala402Gly) | |
| 1 | g.99891352C>T | CA341325423 | AGL | c.2945C>T (p.Ala982Val) n.3156C>T c.2897C>T (p.Ala966Val) c.2894C>T (p.Ala965Val) c.1205C>T (p.Ala402Val) | |
| 1 | g.99891353T>A | CA419314513 | AGL | c.2946T>A (p.Ala982=) n.3157T>A c.2898T>A (p.Ala966=) c.2895T>A (p.Ala965=) c.1206T>A (p.Ala402=) | |
| 1 | g.99891353T>C | CA419314514 | AGL | c.2946T>C (p.Ala982=) n.3157T>C c.2898T>C (p.Ala966=) c.2895T>C (p.Ala965=) c.1206T>C (p.Ala402=) | |
| 1 | g.99891353T>G | CA419314515 | AGL | c.2946T>G (p.Ala982=) n.3157T>G c.2898T>G (p.Ala966=) c.2895T>G (p.Ala965=) c.1206T>G (p.Ala402=) | |
| 1 | g.99891354G>A | CA341325424 | AGL | c.2947G>A (p.Glu983Lys) n.3158G>A c.2899G>A (p.Glu967Lys) c.2896G>A (p.Glu966Lys) c.1207G>A (p.Glu403Lys) | |
| 1 | g.99891354G>C | CA341325425 | AGL | c.2947G>C (p.Glu983Gln) n.3158G>C c.2899G>C (p.Glu967Gln) c.2896G>C (p.Glu966Gln) c.1207G>C (p.Glu403Gln) | |
| 1 | g.99891354G>T | CA341325426 | AGL | c.2947G>T (p.Glu983Ter) n.3158G>T c.2899G>T (p.Glu967Ter) c.2896G>T (p.Glu966Ter) c.1207G>T (p.Glu403Ter) | |
| 1 | g.99891355A>C | CA341325429 | AGL | c.2948A>C (p.Glu983Ala) n.3159A>C c.2900A>C (p.Glu967Ala) c.2897A>C (p.Glu966Ala) c.1208A>C (p.Glu403Ala) | |
| 1 | g.99891355A>G | CA341325430 | AGL | c.2948A>G (p.Glu983Gly) n.3159A>G c.2900A>G (p.Glu967Gly) c.2897A>G (p.Glu966Gly) c.1208A>G (p.Glu403Gly) | |
| 1 | g.99891355A>T | CA341325427 | AGL | c.2948A>T (p.Glu983Val) n.3159A>T c.2900A>T (p.Glu967Val) c.2897A>T (p.Glu966Val) c.1208A>T (p.Glu403Val) | |
| 1 | g.99891356A>C | CA341325435 | AGL | c.2949A>C (p.Glu983Asp) n.3160A>C c.2901A>C (p.Glu967Asp) c.2898A>C (p.Glu966Asp) c.1209A>C (p.Glu403Asp) | |
| 1 | g.99891356A>G | CA419314516 | AGL | c.2949A>G (p.Glu983=) n.3160A>G c.2901A>G (p.Glu967=) c.2898A>G (p.Glu966=) c.1209A>G (p.Glu403=) | gnomAD v4 |
| 1 | g.99891356A>T | CA341325438 | AGL | c.2949A>T (p.Glu983Asp) n.3160A>T c.2901A>T (p.Glu967Asp) c.2898A>T (p.Glu966Asp) c.1209A>T (p.Glu403Asp) | |
| 1 | g.99891357G>A | CA341325439 | AGL | c.2949+1G>A (n.2949+1G>A) n.3160+1G>A c.2901+1G>A (n.2901+1G>A) c.2898+1G>A (n.2898+1G>A) c.1209+1G>A (n.1209+1G>A) | gnomAD v4 |
| 1 | g.99891357G>C | CA341325441 | AGL | c.2949+1G>C (n.2949+1G>C) n.3160+1G>C c.2901+1G>C (n.2901+1G>C) c.2898+1G>C (n.2898+1G>C) c.1209+1G>C (n.1209+1G>C) | |
| 1 | g.99891357G= | CA1183933254 | AGL | c.2949+1G= (n.2949+1G=) n.3160+1G= c.2901+1G= (n.2901+1G=) c.2898+1G= (n.2898+1G=) c.1209+1G= (n.1209+1G=) | |
| 1 | g.99891357G>T | CA341325444 | AGL | c.2949+1G>T (n.2949+1G>T) n.3160+1G>T c.2901+1G>T (n.2901+1G>T) c.2898+1G>T (n.2898+1G>T) c.1209+1G>T (n.1209+1G>T) | |
| 1 | g.99891357dup | CA913046825 | AGL | c.2949+1dup (n.2949+1dup) n.3160+1dup c.2901+1dup (n.2901+1dup) c.2898+1dup (n.2898+1dup) c.1209+1dup (n.1209+1dup) | |
| 1 | g.99891358T>A | CA341325452 | AGL | c.2949+2T>A (n.2949+2T>A) n.3160+2T>A c.2901+2T>A (n.2901+2T>A) c.2898+2T>A (n.2898+2T>A) c.1209+2T>A (n.1209+2T>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99891358T>C | CA966936 | AGL | c.2949+2T>C (n.2949+2T>C) n.3160+2T>C c.2901+2T>C (n.2901+2T>C) c.2898+2T>C (n.2898+2T>C) c.1209+2T>C (n.1209+2T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99891358T>G | CA341325461 | AGL | c.2949+2T>G (n.2949+2T>G) n.3160+2T>G c.2901+2T>G (n.2901+2T>G) c.2898+2T>G (n.2898+2T>G) c.1209+2T>G (n.1209+2T>G) | |
| 1 | g.99891358T= | CA1183933255 | AGL | c.2949+2T= (n.2949+2T=) n.3160+2T= c.2901+2T= (n.2901+2T=) c.2898+2T= (n.2898+2T=) c.1209+2T= (n.1209+2T=) | |
| 1 | g.99891358dup | CA658821115 | AGL | c.2949+2dup (n.2949+2dup) n.3160+2dup c.2901+2dup (n.2901+2dup) c.2898+2dup (n.2898+2dup) c.1209+2dup (n.1209+2dup) | ClinVar dbSNP gnomAD v4 |
| 1 | g.99891359A= | CA1183933256 | AGL | c.2949+3A= (n.2949+3A=) n.3160+3A= c.2901+3A= (n.2901+3A=) c.2898+3A= (n.2898+3A=) c.1209+3A= (n.1209+3A=) |