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.27658378A>C | CA380074630 | BDNF,BDNF-AS | c.187T>G (p.Phe63Val) c.211T>G (p.Phe71Val) c.232T>G (p.Phe78Val) c.433T>G (p.Phe145Val) c.*316T>G (n.*316T>G) n.545T>G c.274T>G (p.Phe92Val) n.512A>C n.443A>C | |
| 11 | g.27658378A>G | CA380074631 | BDNF,BDNF-AS | c.187T>C (p.Phe63Leu) c.211T>C (p.Phe71Leu) c.232T>C (p.Phe78Leu) c.433T>C (p.Phe145Leu) c.*316T>C (n.*316T>C) n.545T>C c.274T>C (p.Phe92Leu) n.512A>G n.443A>G | |
| 11 | g.27658378A>T | CA380074632 | BDNF,BDNF-AS | c.187T>A (p.Phe63Ile) c.211T>A (p.Phe71Ile) c.232T>A (p.Phe78Ile) c.433T>A (p.Phe145Ile) c.*316T>A (n.*316T>A) n.545T>A c.274T>A (p.Phe92Ile) n.512A>T n.443A>T | |
| 11 | g.27658379A>C | CA473781522 | BDNF,BDNF-AS | c.186T>G (p.Thr62=) c.210T>G (p.Thr70=) c.231T>G (p.Thr77=) c.432T>G (p.Thr144=) c.*315T>G (n.*315T>G) n.544T>G c.273T>G (p.Thr91=) n.513A>C n.444A>C | |
| 11 | g.27658379A>G | CA473781523 | BDNF,BDNF-AS | c.186T>C (p.Thr62=) c.210T>C (p.Thr70=) c.231T>C (p.Thr77=) c.432T>C (p.Thr144=) c.*315T>C (n.*315T>C) n.544T>C c.273T>C (p.Thr91=) n.513A>G n.444A>G | |
| 11 | g.27658379A>T | CA473781524 | BDNF,BDNF-AS | c.186T>A (p.Thr62=) c.210T>A (p.Thr70=) c.231T>A (p.Thr77=) c.432T>A (p.Thr144=) c.*315T>A (n.*315T>A) n.544T>A c.273T>A (p.Thr91=) n.513A>T n.444A>T | |
| 11 | g.27658380G>A | CA380074633 | BDNF,BDNF-AS | c.185C>T (p.Thr62Ile) c.209C>T (p.Thr70Ile) c.230C>T (p.Thr77Ile) c.431C>T (p.Thr144Ile) c.*314C>T (n.*314C>T) n.543C>T c.272C>T (p.Thr91Ile) n.514G>A n.445G>A | |
| 11 | g.27658380G>C | CA380074634 | BDNF,BDNF-AS | c.185C>G (p.Thr62Ser) c.209C>G (p.Thr70Ser) c.230C>G (p.Thr77Ser) c.431C>G (p.Thr144Ser) c.*314C>G (n.*314C>G) n.543C>G c.272C>G (p.Thr91Ser) n.514G>C n.445G>C | |
| 11 | g.27658380G>T | CA380074635 | BDNF,BDNF-AS | c.185C>A (p.Thr62Asn) c.209C>A (p.Thr70Asn) c.230C>A (p.Thr77Asn) c.431C>A (p.Thr144Asn) c.*314C>A (n.*314C>A) n.543C>A c.272C>A (p.Thr91Asn) n.514G>T n.445G>T | |
| 11 | g.27658381T>A | CA380074637 | BDNF,BDNF-AS | c.184A>T (p.Thr62Ser) c.208A>T (p.Thr70Ser) c.229A>T (p.Thr77Ser) c.430A>T (p.Thr144Ser) c.*313A>T (n.*313A>T) n.542A>T c.271A>T (p.Thr91Ser) n.515T>A n.446T>A | |
| 11 | g.27658381T>C | CA380074638 | BDNF,BDNF-AS | c.184A>G (p.Thr62Ala) c.208A>G (p.Thr70Ala) c.229A>G (p.Thr77Ala) c.430A>G (p.Thr144Ala) c.*313A>G (n.*313A>G) n.542A>G c.271A>G (p.Thr91Ala) n.515T>C n.446T>C | ClinVar dbSNP gnomAD v4 |
| 11 | g.27658381T>G | CA380074636 | BDNF,BDNF-AS | c.184A>C (p.Thr62Pro) c.208A>C (p.Thr70Pro) c.229A>C (p.Thr77Pro) c.430A>C (p.Thr144Pro) c.*313A>C (n.*313A>C) n.542A>C c.271A>C (p.Thr91Pro) n.515T>G n.446T>G | |
| 11 | g.27658381T= | CA1960092538 | BDNF,BDNF-AS | c.184A= (p.Thr62=) c.208A= (p.Thr70=) c.229A= (p.Thr77=) c.430A= (p.Thr144=) c.*313A= (n.*313A=) n.542A= c.271A= (p.Thr91=) n.515T= n.446T= | |
| 11 | g.27658382G>A | CA473781526 | BDNF,BDNF-AS | c.183C>T (p.Asp61=) c.207C>T (p.Asp69=) c.228C>T (p.Asp76=) c.429C>T (p.Asp143=) c.*312C>T (n.*312C>T) n.541C>T c.270C>T (p.Asp90=) n.516G>A n.447G>A | gnomAD v4 |
| 11 | g.27658382G>C | CA380074639 | BDNF,BDNF-AS | c.183C>G (p.Asp61Glu) c.207C>G (p.Asp69Glu) c.228C>G (p.Asp76Glu) c.429C>G (p.Asp143Glu) c.*312C>G (n.*312C>G) n.541C>G c.270C>G (p.Asp90Glu) n.516G>C n.447G>C | gnomAD v4 |
| 11 | g.27658382G>T | CA380074640 | BDNF,BDNF-AS | c.183C>A (p.Asp61Glu) c.207C>A (p.Asp69Glu) c.228C>A (p.Asp76Glu) c.429C>A (p.Asp143Glu) c.*312C>A (n.*312C>A) n.541C>A c.270C>A (p.Asp90Glu) n.516G>T n.447G>T | COSMIC COSMIC COSMIC |
| 11 | g.27658383T>A | CA380074641 | BDNF,BDNF-AS | c.182A>T (p.Asp61Val) c.206A>T (p.Asp69Val) c.227A>T (p.Asp76Val) c.428A>T (p.Asp143Val) c.*311A>T (n.*311A>T) n.540A>T c.269A>T (p.Asp90Val) n.517T>A n.448T>A | |
| 11 | g.27658383T>C | CA380074642 | BDNF,BDNF-AS | c.182A>G (p.Asp61Gly) c.206A>G (p.Asp69Gly) c.227A>G (p.Asp76Gly) c.428A>G (p.Asp143Gly) c.*311A>G (n.*311A>G) n.540A>G c.269A>G (p.Asp90Gly) n.517T>C n.448T>C | |
| 11 | g.27658383T>G | CA380074643 | BDNF,BDNF-AS | c.182A>C (p.Asp61Ala) c.206A>C (p.Asp69Ala) c.227A>C (p.Asp76Ala) c.428A>C (p.Asp143Ala) c.*311A>C (n.*311A>C) n.540A>C c.269A>C (p.Asp90Ala) n.517T>G n.448T>G | |
| 11 | g.27658384C>A | CA380074644 | BDNF,BDNF-AS | c.181G>T (p.Asp61Tyr) c.205G>T (p.Asp69Tyr) c.226G>T (p.Asp76Tyr) c.427G>T (p.Asp143Tyr) c.*310G>T (n.*310G>T) n.539G>T c.268G>T (p.Asp90Tyr) n.518C>A n.449C>A | |
| 11 | g.27658384C>G | CA380074645 | BDNF,BDNF-AS | c.181G>C (p.Asp61His) c.205G>C (p.Asp69His) c.226G>C (p.Asp76His) c.427G>C (p.Asp143His) c.*310G>C (n.*310G>C) n.539G>C c.268G>C (p.Asp90His) n.518C>G n.449C>G | |
| 11 | g.27658384C>T | CA380074646 | BDNF,BDNF-AS | c.181G>A (p.Asp61Asn) c.205G>A (p.Asp69Asn) c.226G>A (p.Asp76Asn) c.427G>A (p.Asp143Asn) c.*310G>A (n.*310G>A) n.539G>A c.268G>A (p.Asp90Asn) n.518C>T n.449C>T | |
| 11 | g.27658385A>C | CA473781530 | BDNF,BDNF-AS | c.180T>G (p.Ala60=) c.204T>G (p.Ala68=) c.225T>G (p.Ala75=) c.426T>G (p.Ala142=) c.*309T>G (n.*309T>G) n.538T>G c.267T>G (p.Ala89=) n.519A>C n.450A>C | |
| 11 | g.27658385A>G | CA473781531 | BDNF,BDNF-AS | c.180T>C (p.Ala60=) c.204T>C (p.Ala68=) c.225T>C (p.Ala75=) c.426T>C (p.Ala142=) c.*309T>C (n.*309T>C) n.538T>C c.267T>C (p.Ala89=) n.519A>G n.450A>G | gnomAD v4 |
| 11 | g.27658385A>T | CA473781529 | BDNF,BDNF-AS | c.180T>A (p.Ala60=) c.204T>A (p.Ala68=) c.225T>A (p.Ala75=) c.426T>A (p.Ala142=) c.*309T>A (n.*309T>A) n.538T>A c.267T>A (p.Ala89=) n.519A>T n.450A>T | |
| 11 | g.27658386G>A | CA380074647 | BDNF,BDNF-AS | c.179C>T (p.Ala60Val) c.203C>T (p.Ala68Val) c.224C>T (p.Ala75Val) c.425C>T (p.Ala142Val) c.*308C>T (n.*308C>T) n.537C>T c.266C>T (p.Ala89Val) n.520G>A n.451G>A | |
| 11 | g.27658386G>C | CA380074648 | BDNF,BDNF-AS | c.179C>G (p.Ala60Gly) c.203C>G (p.Ala68Gly) c.224C>G (p.Ala75Gly) c.425C>G (p.Ala142Gly) c.*308C>G (n.*308C>G) n.537C>G c.266C>G (p.Ala89Gly) n.520G>C n.451G>C | |
| 11 | g.27658386G>T | CA380074649 | BDNF,BDNF-AS | c.179C>A (p.Ala60Asp) c.203C>A (p.Ala68Asp) c.224C>A (p.Ala75Asp) c.425C>A (p.Ala142Asp) c.*308C>A (n.*308C>A) n.537C>A c.266C>A (p.Ala89Asp) n.520G>T n.451G>T | |
| 11 | g.27658387C>A | CA380074651 | BDNF,BDNF-AS | c.178G>T (p.Ala60Ser) c.202G>T (p.Ala68Ser) c.223G>T (p.Ala75Ser) c.424G>T (p.Ala142Ser) c.*307G>T (n.*307G>T) n.536G>T c.265G>T (p.Ala89Ser) n.521C>A n.452C>A | |
| 11 | g.27658387C>G | CA380074652 | BDNF,BDNF-AS | c.178G>C (p.Ala60Pro) c.202G>C (p.Ala68Pro) c.223G>C (p.Ala75Pro) c.424G>C (p.Ala142Pro) c.*307G>C (n.*307G>C) n.536G>C c.265G>C (p.Ala89Pro) n.521C>G n.452C>G | |
| 11 | g.27658387C>T | CA380074650 | BDNF,BDNF-AS | c.178G>A (p.Ala60Thr) c.202G>A (p.Ala68Thr) c.223G>A (p.Ala75Thr) c.424G>A (p.Ala142Thr) c.*307G>A (n.*307G>A) n.536G>A c.265G>A (p.Ala89Thr) n.521C>T n.452C>T | COSMIC |
| 11 | g.27658388C>A | CA380074653 | BDNF,BDNF-AS | c.177G>T (p.Leu59Phe) c.201G>T (p.Leu67Phe) c.222G>T (p.Leu74Phe) c.423G>T (p.Leu141Phe) c.*306G>T (n.*306G>T) n.535G>T c.264G>T (p.Leu88Phe) n.522C>A n.453C>A | |
| 11 | g.27658388C>G | CA380074654 | BDNF,BDNF-AS | c.177G>C (p.Leu59Phe) c.201G>C (p.Leu67Phe) c.222G>C (p.Leu74Phe) c.423G>C (p.Leu141Phe) c.*306G>C (n.*306G>C) n.535G>C c.264G>C (p.Leu88Phe) n.522C>G n.453C>G | |
| 11 | g.27658388C>T | CA473781533 | BDNF,BDNF-AS | c.177G>A (p.Leu59=) c.201G>A (p.Leu67=) c.222G>A (p.Leu74=) c.423G>A (p.Leu141=) c.*306G>A (n.*306G>A) n.535G>A c.264G>A (p.Leu88=) n.522C>T n.453C>T | |
| 11 | g.27658389A= | CA1960092541 | BDNF,BDNF-AS | c.176T= (p.Leu59=) c.200T= (p.Leu67=) c.221T= (p.Leu74=) c.422T= (p.Leu141=) c.*305T= (n.*305T=) n.534T= c.263T= (p.Leu88=) n.523A= n.454A= | |
| 11 | g.27658389A>C | CA380074655 | BDNF,BDNF-AS | c.176T>G (p.Leu59Trp) c.200T>G (p.Leu67Trp) c.221T>G (p.Leu74Trp) c.422T>G (p.Leu141Trp) c.*305T>G (n.*305T>G) n.534T>G c.263T>G (p.Leu88Trp) n.523A>C n.454A>C | |
| 11 | g.27658389A>G | CA380074656 | BDNF,BDNF-AS | c.176T>C (p.Leu59Ser) c.200T>C (p.Leu67Ser) c.221T>C (p.Leu74Ser) c.422T>C (p.Leu141Ser) c.*305T>C (n.*305T>C) n.534T>C c.263T>C (p.Leu88Ser) n.523A>G n.454A>G | gnomAD v4 |
| 11 | g.27658389A>T | CA380074657 | BDNF,BDNF-AS | c.176T>A (p.Leu59Ter) c.200T>A (p.Leu67Ter) c.221T>A (p.Leu74Ter) c.422T>A (p.Leu141Ter) c.*305T>A (n.*305T>A) n.534T>A c.263T>A (p.Leu88Ter) n.523A>T n.454A>T | |
| 11 | g.27658390A>C | CA380074659 | BDNF,BDNF-AS | c.175T>G (p.Leu59Val) c.199T>G (p.Leu67Val) c.220T>G (p.Leu74Val) c.421T>G (p.Leu141Val) c.*304T>G (n.*304T>G) n.533T>G c.262T>G (p.Leu88Val) n.524A>C n.455A>C | |
| 11 | g.27658390A>G | CA473781535 | BDNF,BDNF-AS | c.175T>C (p.Leu59=) c.199T>C (p.Leu67=) c.220T>C (p.Leu74=) c.421T>C (p.Leu141=) c.*304T>C (n.*304T>C) n.533T>C c.262T>C (p.Leu88=) n.524A>G n.455A>G | |
| 11 | g.27658390A>T | CA380074658 | BDNF,BDNF-AS | c.175T>A (p.Leu59Met) c.199T>A (p.Leu67Met) c.220T>A (p.Leu74Met) c.421T>A (p.Leu141Met) c.*304T>A (n.*304T>A) n.533T>A c.262T>A (p.Leu88Met) n.524A>T n.455A>T | |
| 11 | g.27658390_27658391insCGA | CA1960092545 | BDNF,BDNF-AS | c.175_176insCGT (p.Ser58_Leu59insSer) c.199_200insCGT (p.Ser66_Leu67insSer) c.220_221insCGT (p.Ser73_Leu74insSer) c.421_422insCGT (p.Ser140_Leu141insSer) c.*304_*305insCGT (n.*304_*305insCGT) n.533_534insCGT c.262_263insCGT (p.Ser87_Leu88insSer) n.524_525insCGA n.455_456insCGA | dbSNP |
| 11 | g.27658391T>A | CA473781536 | BDNF,BDNF-AS | c.174A>T (p.Ser58=) c.198A>T (p.Ser66=) c.219A>T (p.Ser73=) c.420A>T (p.Ser140=) c.*303A>T (n.*303A>T) n.532A>T c.261A>T (p.Ser87=) n.525T>A n.456T>A | |
| 11 | g.27658391T>C | CA219852077 | BDNF,BDNF-AS | c.174A>G (p.Ser58=) c.198A>G (p.Ser66=) c.219A>G (p.Ser73=) c.420A>G (p.Ser140=) c.*303A>G (n.*303A>G) n.532A>G c.261A>G (p.Ser87=) n.525T>C n.456T>C | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.27658391T>G | CA473781537 | BDNF,BDNF-AS | c.174A>C (p.Ser58=) c.198A>C (p.Ser66=) c.219A>C (p.Ser73=) c.420A>C (p.Ser140=) c.*303A>C (n.*303A>C) n.532A>C c.261A>C (p.Ser87=) n.525T>G n.456T>G | |
| 11 | g.27658391T= | CA1960092549 | BDNF,BDNF-AS | c.174A= (p.Ser58=) c.198A= (p.Ser66=) c.219A= (p.Ser73=) c.420A= (p.Ser140=) c.*303A= (n.*303A=) n.532A= c.261A= (p.Ser87=) n.525T= n.456T= | |
| 11 | g.27658392G>A | CA380074660 | BDNF,BDNF-AS | c.173C>T (p.Ser58Leu) c.197C>T (p.Ser66Leu) c.218C>T (p.Ser73Leu) c.419C>T (p.Ser140Leu) c.*302C>T (n.*302C>T) n.531C>T c.260C>T (p.Ser87Leu) n.526G>A n.457G>A | |
| 11 | g.27658392G>C | CA380074661 | BDNF,BDNF-AS | c.173C>G (p.Ser58Ter) c.197C>G (p.Ser66Ter) c.218C>G (p.Ser73Ter) c.419C>G (p.Ser140Ter) c.*302C>G (n.*302C>G) n.531C>G c.260C>G (p.Ser87Ter) n.526G>C n.457G>C | |
| 11 | g.27658392G>T | CA380074662 | BDNF,BDNF-AS | c.173C>A (p.Ser58Ter) c.197C>A (p.Ser66Ter) c.218C>A (p.Ser73Ter) c.419C>A (p.Ser140Ter) c.*302C>A (n.*302C>A) n.531C>A c.260C>A (p.Ser87Ter) n.526G>T n.457G>T | |
| 11 | g.27658393A>C | CA380074663 | BDNF,BDNF-AS | c.172T>G (p.Ser58Ala) c.196T>G (p.Ser66Ala) c.217T>G (p.Ser73Ala) c.418T>G (p.Ser140Ala) c.*301T>G (n.*301T>G) n.530T>G c.259T>G (p.Ser87Ala) n.527A>C n.458A>C | gnomAD v4 |