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 |
|---|---|---|---|---|---|
| 11 | g.27658282T>A | CA380074415 | BDNF,BDNF-AS | c.283A>T (p.Met95Leu) c.307A>T (p.Met103Leu) c.328A>T (p.Met110Leu) c.529A>T (p.Met177Leu) c.*412A>T (n.*412A>T) n.641A>T c.370A>T (p.Met124Leu) n.416T>A n.347T>A | |
| 11 | g.27658282T>C | CA380074416 | BDNF,BDNF-AS | c.283A>G (p.Met95Val) c.307A>G (p.Met103Val) c.328A>G (p.Met110Val) c.529A>G (p.Met177Val) c.*412A>G (n.*412A>G) n.641A>G c.370A>G (p.Met124Val) n.416T>C n.347T>C | |
| 11 | g.27658282T>G | CA380074417 | BDNF,BDNF-AS | c.283A>C (p.Met95Leu) c.307A>C (p.Met103Leu) c.328A>C (p.Met110Leu) c.529A>C (p.Met177Leu) c.*412A>C (n.*412A>C) n.641A>C c.370A>C (p.Met124Leu) n.416T>G n.347T>G | |
| 11 | g.27658283C>A | CA473781380 | BDNF,BDNF-AS | c.282G>T (p.Val94=) c.306G>T (p.Val102=) c.327G>T (p.Val109=) c.528G>T (p.Val176=) c.*411G>T (n.*411G>T) n.640G>T c.369G>T (p.Val123=) n.417C>A n.348C>A | |
| 11 | g.27658283C>G | CA473781381 | BDNF,BDNF-AS | c.282G>C (p.Val94=) c.306G>C (p.Val102=) c.327G>C (p.Val109=) c.528G>C (p.Val176=) c.*411G>C (n.*411G>C) n.640G>C c.369G>C (p.Val123=) n.417C>G n.348C>G | |
| 11 | g.27658283C>T | CA473781382 | BDNF,BDNF-AS | c.282G>A (p.Val94=) c.306G>A (p.Val102=) c.327G>A (p.Val109=) c.528G>A (p.Val176=) c.*411G>A (n.*411G>A) n.640G>A c.369G>A (p.Val123=) n.417C>T n.348C>T | |
| 11 | g.27658284A>C | CA380074419 | BDNF,BDNF-AS | c.281T>G (p.Val94Gly) c.305T>G (p.Val102Gly) c.326T>G (p.Val109Gly) c.527T>G (p.Val176Gly) c.*410T>G (n.*410T>G) n.639T>G c.368T>G (p.Val123Gly) n.418A>C n.349A>C | |
| 11 | g.27658284A>G | CA380074420 | BDNF,BDNF-AS | c.281T>C (p.Val94Ala) c.305T>C (p.Val102Ala) c.326T>C (p.Val109Ala) c.527T>C (p.Val176Ala) c.*410T>C (n.*410T>C) n.639T>C c.368T>C (p.Val123Ala) n.418A>G n.349A>G | |
| 11 | g.27658284A>T | CA380074418 | BDNF,BDNF-AS | c.281T>A (p.Val94Glu) c.305T>A (p.Val102Glu) c.326T>A (p.Val109Glu) c.527T>A (p.Val176Glu) c.*410T>A (n.*410T>A) n.639T>A c.368T>A (p.Val123Glu) n.418A>T n.349A>T | |
| 11 | g.27658285C>A | CA219852073 | BDNF,BDNF-AS | c.280G>T (p.Val94Leu) c.304G>T (p.Val102Leu) c.325G>T (p.Val109Leu) c.526G>T (p.Val176Leu) c.*409G>T (n.*409G>T) n.638G>T c.367G>T (p.Val123Leu) n.419C>A n.350C>A | dbSNP gnomAD v4 |
| 11 | g.27658285C= | CA1960092419 | BDNF,BDNF-AS | c.280G= (p.Val94=) c.304G= (p.Val102=) c.325G= (p.Val109=) c.526G= (p.Val176=) c.*409G= (n.*409G=) n.638G= c.367G= (p.Val123=) n.419C= n.350C= | |
| 11 | g.27658285C>G | CA380074421 | BDNF,BDNF-AS | c.280G>C (p.Val94Leu) c.304G>C (p.Val102Leu) c.325G>C (p.Val109Leu) c.526G>C (p.Val176Leu) c.*409G>C (n.*409G>C) n.638G>C c.367G>C (p.Val123Leu) n.419C>G n.350C>G | gnomAD v4 |
| 11 | g.27658285C>T | CA380074422 | BDNF,BDNF-AS | c.280G>A (p.Val94Met) c.304G>A (p.Val102Met) c.325G>A (p.Val109Met) c.526G>A (p.Val176Met) c.*409G>A (n.*409G>A) n.638G>A c.367G>A (p.Val123Met) n.419C>T n.350C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.27658286C>A | CA380074423 | BDNF,BDNF-AS | c.279G>T (p.Arg93Ser) c.303G>T (p.Arg101Ser) c.324G>T (p.Arg108Ser) c.525G>T (p.Arg175Ser) c.*408G>T (n.*408G>T) n.637G>T c.366G>T (p.Arg122Ser) n.420C>A n.351C>A | |
| 11 | g.27658286C>G | CA380074424 | BDNF,BDNF-AS | c.279G>C (p.Arg93Ser) c.303G>C (p.Arg101Ser) c.324G>C (p.Arg108Ser) c.525G>C (p.Arg175Ser) c.*408G>C (n.*408G>C) n.637G>C c.366G>C (p.Arg122Ser) n.420C>G n.351C>G | |
| 11 | g.27658286C>T | CA473781387 | BDNF,BDNF-AS | c.279G>A (p.Arg93=) c.303G>A (p.Arg101=) c.324G>A (p.Arg108=) c.525G>A (p.Arg175=) c.*408G>A (n.*408G>A) n.637G>A c.366G>A (p.Arg122=) n.420C>T n.351C>T | gnomAD v4 |
| 11 | g.27658287C>A | CA380074427 | BDNF,BDNF-AS | c.278G>T (p.Arg93Met) c.302G>T (p.Arg101Met) c.323G>T (p.Arg108Met) c.524G>T (p.Arg175Met) c.*407G>T (n.*407G>T) n.636G>T c.365G>T (p.Arg122Met) n.421C>A n.352C>A | |
| 11 | g.27658287C>G | CA380074425 | BDNF,BDNF-AS | c.278G>C (p.Arg93Thr) c.302G>C (p.Arg101Thr) c.323G>C (p.Arg108Thr) c.524G>C (p.Arg175Thr) c.*407G>C (n.*407G>C) n.636G>C c.365G>C (p.Arg122Thr) n.421C>G n.352C>G | |
| 11 | g.27658287C>T | CA380074426 | BDNF,BDNF-AS | c.278G>A (p.Arg93Lys) c.302G>A (p.Arg101Lys) c.323G>A (p.Arg108Lys) c.524G>A (p.Arg175Lys) c.*407G>A (n.*407G>A) n.636G>A c.365G>A (p.Arg122Lys) n.421C>T n.352C>T | |
| 11 | g.27658288T>A | CA380074428 | BDNF,BDNF-AS | c.277A>T (p.Arg93Trp) c.301A>T (p.Arg101Trp) c.322A>T (p.Arg108Trp) c.523A>T (p.Arg175Trp) c.*406A>T (n.*406A>T) n.635A>T c.364A>T (p.Arg122Trp) n.422T>A n.353T>A | |
| 11 | g.27658288T>C | CA380074429 | BDNF,BDNF-AS | c.277A>G (p.Arg93Gly) c.301A>G (p.Arg101Gly) c.322A>G (p.Arg108Gly) c.523A>G (p.Arg175Gly) c.*406A>G (n.*406A>G) n.635A>G c.364A>G (p.Arg122Gly) n.422T>C n.353T>C | |
| 11 | g.27658288T>G | CA473781388 | BDNF,BDNF-AS | c.277A>C (p.Arg93=) c.301A>C (p.Arg101=) c.322A>C (p.Arg108=) c.523A>C (p.Arg175=) c.*406A>C (n.*406A>C) n.635A>C c.364A>C (p.Arg122=) n.422T>G n.353T>G | |
| 11 | g.27658289G>A | CA473781391 | BDNF,BDNF-AS | c.276C>T (p.Ser92=) c.300C>T (p.Ser100=) c.321C>T (p.Ser107=) c.522C>T (p.Ser174=) c.*405C>T (n.*405C>T) n.634C>T c.363C>T (p.Ser121=) n.423G>A n.354G>A | |
| 11 | g.27658289G>C | CA473781393 | BDNF,BDNF-AS | c.276C>G (p.Ser92=) c.300C>G (p.Ser100=) c.321C>G (p.Ser107=) c.522C>G (p.Ser174=) c.*405C>G (n.*405C>G) n.634C>G c.363C>G (p.Ser121=) n.423G>C n.354G>C | |
| 11 | g.27658289G>T | CA473781394 | BDNF,BDNF-AS | c.276C>A (p.Ser92=) c.300C>A (p.Ser100=) c.321C>A (p.Ser107=) c.522C>A (p.Ser174=) c.*405C>A (n.*405C>A) n.634C>A c.363C>A (p.Ser121=) n.423G>T n.354G>T | |
| 11 | g.27658290G>A | CA380074430 | BDNF,BDNF-AS | c.275C>T (p.Ser92Phe) c.299C>T (p.Ser100Phe) c.320C>T (p.Ser107Phe) c.521C>T (p.Ser174Phe) c.*404C>T (n.*404C>T) n.633C>T c.362C>T (p.Ser121Phe) n.424G>A n.355G>A | |
| 11 | g.27658290G>C | CA380074431 | BDNF,BDNF-AS | c.275C>G (p.Ser92Cys) c.299C>G (p.Ser100Cys) c.320C>G (p.Ser107Cys) c.521C>G (p.Ser174Cys) c.*404C>G (n.*404C>G) n.633C>G c.362C>G (p.Ser121Cys) n.424G>C n.355G>C | |
| 11 | g.27658290G>T | CA380074432 | BDNF,BDNF-AS | c.275C>A (p.Ser92Tyr) c.299C>A (p.Ser100Tyr) c.320C>A (p.Ser107Tyr) c.521C>A (p.Ser174Tyr) c.*404C>A (n.*404C>A) n.633C>A c.362C>A (p.Ser121Tyr) n.424G>T n.355G>T | |
| 11 | g.27658291A>C | CA380074435 | BDNF,BDNF-AS | c.274T>G (p.Ser92Ala) c.298T>G (p.Ser100Ala) c.319T>G (p.Ser107Ala) c.520T>G (p.Ser174Ala) c.*403T>G (n.*403T>G) n.632T>G c.361T>G (p.Ser121Ala) n.425A>C n.356A>C | |
| 11 | g.27658291A>G | CA380074434 | BDNF,BDNF-AS | c.274T>C (p.Ser92Pro) c.298T>C (p.Ser100Pro) c.319T>C (p.Ser107Pro) c.520T>C (p.Ser174Pro) c.*403T>C (n.*403T>C) n.632T>C c.361T>C (p.Ser121Pro) n.425A>G n.356A>G | |
| 11 | g.27658291A>T | CA380074433 | BDNF,BDNF-AS | c.274T>A (p.Ser92Thr) c.298T>A (p.Ser100Thr) c.319T>A (p.Ser107Thr) c.520T>A (p.Ser174Thr) c.*403T>A (n.*403T>A) n.632T>A c.361T>A (p.Ser121Thr) n.425A>T n.356A>T | |
| 11 | g.27658292C>A | CA473781398 | BDNF,BDNF-AS | c.273G>T (p.Thr91=) c.297G>T (p.Thr99=) c.318G>T (p.Thr106=) c.519G>T (p.Thr173=) c.*402G>T (n.*402G>T) n.631G>T c.360G>T (p.Thr120=) n.426C>A n.357C>A | |
| 11 | g.27658292C= | CA1960092422 | BDNF,BDNF-AS | c.273G= (p.Thr91=) c.297G= (p.Thr99=) c.318G= (p.Thr106=) c.519G= (p.Thr173=) c.*402G= (n.*402G=) n.631G= c.360G= (p.Thr120=) n.426C= n.357C= | |
| 11 | g.27658292C>G | CA473781399 | BDNF,BDNF-AS | c.273G>C (p.Thr91=) c.297G>C (p.Thr99=) c.318G>C (p.Thr106=) c.519G>C (p.Thr173=) c.*402G>C (n.*402G>C) n.631G>C c.360G>C (p.Thr120=) n.426C>G n.357C>G | |
| 11 | g.27658292C>T | CA5929112 | BDNF,BDNF-AS | c.273G>A (p.Thr91=) c.297G>A (p.Thr99=) c.318G>A (p.Thr106=) c.519G>A (p.Thr173=) c.*402G>A (n.*402G>A) n.631G>A c.360G>A (p.Thr120=) n.426C>T n.357C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.27658293G>A | CA5929114 | BDNF,BDNF-AS | c.272C>T (p.Thr91Met) c.296C>T (p.Thr99Met) c.317C>T (p.Thr106Met) c.518C>T (p.Thr173Met) c.*401C>T (n.*401C>T) n.630C>T c.359C>T (p.Thr120Met) n.427G>A n.358G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 11 | g.27658293G>C | CA380074436 | BDNF,BDNF-AS | c.272C>G (p.Thr91Arg) c.296C>G (p.Thr99Arg) c.317C>G (p.Thr106Arg) c.518C>G (p.Thr173Arg) c.*401C>G (n.*401C>G) n.630C>G c.359C>G (p.Thr120Arg) n.427G>C n.358G>C | |
| 11 | g.27658293G= | CA1960092426 | BDNF,BDNF-AS | c.272C= (p.Thr91=) c.296C= (p.Thr99=) c.317C= (p.Thr106=) c.518C= (p.Thr173=) c.*401C= (n.*401C=) n.630C= c.359C= (p.Thr120=) n.427G= n.358G= | |
| 11 | g.27658293G>T | CA5929113 | BDNF,BDNF-AS | c.272C>A (p.Thr91Lys) c.296C>A (p.Thr99Lys) c.317C>A (p.Thr106Lys) c.518C>A (p.Thr173Lys) c.*401C>A (n.*401C>A) n.630C>A c.359C>A (p.Thr120Lys) n.427G>T n.358G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 11 | g.27658294T>A | CA380074437 | BDNF,BDNF-AS | c.271A>T (p.Thr91Ser) c.295A>T (p.Thr99Ser) c.316A>T (p.Thr106Ser) c.517A>T (p.Thr173Ser) c.*400A>T (n.*400A>T) n.629A>T c.358A>T (p.Thr120Ser) n.428T>A n.359T>A | |
| 11 | g.27658294T>C | CA380074438 | BDNF,BDNF-AS | c.271A>G (p.Thr91Ala) c.295A>G (p.Thr99Ala) c.316A>G (p.Thr106Ala) c.517A>G (p.Thr173Ala) c.*400A>G (n.*400A>G) n.629A>G c.358A>G (p.Thr120Ala) n.428T>C n.359T>C | |
| 11 | g.27658294T>G | CA380074439 | BDNF,BDNF-AS | c.271A>C (p.Thr91Pro) c.295A>C (p.Thr99Pro) c.316A>C (p.Thr106Pro) c.517A>C (p.Thr173Pro) c.*400A>C (n.*400A>C) n.629A>C c.358A>C (p.Thr120Pro) n.428T>G n.359T>G | |
| 11 | g.27658295G>A | CA473781407 | BDNF,BDNF-AS | c.270C>T (p.Tyr90=) c.294C>T (p.Tyr98=) c.315C>T (p.Tyr105=) c.516C>T (p.Tyr172=) c.*399C>T (n.*399C>T) n.628C>T c.357C>T (p.Tyr119=) n.429G>A n.360G>A | |
| 11 | g.27658295G>C | CA380074440 | BDNF,BDNF-AS | c.270C>G (p.Tyr90Ter) c.294C>G (p.Tyr98Ter) c.315C>G (p.Tyr105Ter) c.516C>G (p.Tyr172Ter) c.*399C>G (n.*399C>G) n.628C>G c.357C>G (p.Tyr119Ter) n.429G>C n.360G>C | |
| 11 | g.27658295G>T | CA380074441 | BDNF,BDNF-AS | c.270C>A (p.Tyr90Ter) c.294C>A (p.Tyr98Ter) c.315C>A (p.Tyr105Ter) c.516C>A (p.Tyr172Ter) c.*399C>A (n.*399C>A) n.628C>A c.357C>A (p.Tyr119Ter) n.429G>T n.360G>T | |
| 11 | g.27658296T>A | CA380074442 | BDNF,BDNF-AS | c.269A>T (p.Tyr90Phe) c.293A>T (p.Tyr98Phe) c.314A>T (p.Tyr105Phe) c.515A>T (p.Tyr172Phe) c.*398A>T (n.*398A>T) n.627A>T c.356A>T (p.Tyr119Phe) n.430T>A n.361T>A | |
| 11 | g.27658296T>C | CA380074443 | BDNF,BDNF-AS | c.269A>G (p.Tyr90Cys) c.293A>G (p.Tyr98Cys) c.314A>G (p.Tyr105Cys) c.515A>G (p.Tyr172Cys) c.*398A>G (n.*398A>G) n.627A>G c.356A>G (p.Tyr119Cys) n.430T>C n.361T>C | |
| 11 | g.27658296T>G | CA380074444 | BDNF,BDNF-AS | c.269A>C (p.Tyr90Ser) c.293A>C (p.Tyr98Ser) c.314A>C (p.Tyr105Ser) c.515A>C (p.Tyr172Ser) c.*398A>C (n.*398A>C) n.627A>C c.356A>C (p.Tyr119Ser) n.430T>G n.361T>G | |
| 11 | g.27658297A= | CA1960092430 | BDNF,BDNF-AS | c.268T= (p.Tyr90=) c.292T= (p.Tyr98=) c.313T= (p.Tyr105=) c.514T= (p.Tyr172=) c.*397T= (n.*397T=) n.626T= c.355T= (p.Tyr119=) n.431A= n.362A= | |
| 11 | g.27658297A>C | CA380074445 | BDNF,BDNF-AS | c.268T>G (p.Tyr90Asp) c.292T>G (p.Tyr98Asp) c.313T>G (p.Tyr105Asp) c.514T>G (p.Tyr172Asp) c.*397T>G (n.*397T>G) n.626T>G c.355T>G (p.Tyr119Asp) n.431A>C n.362A>C |