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.27658170G>A | CA380074165 | BDNF,BDNF-AS | c.395C>T (p.Pro132Leu) c.419C>T (p.Pro140Leu) c.440C>T (p.Pro147Leu) c.641C>T (p.Pro214Leu) c.*524C>T (n.*524C>T) n.753C>T c.482C>T (p.Pro161Leu) n.375-71G>A n.306-71G>A | |
| 11 | g.27658170G>C | CA380074166 | BDNF,BDNF-AS | c.395C>G (p.Pro132Arg) c.419C>G (p.Pro140Arg) c.440C>G (p.Pro147Arg) c.641C>G (p.Pro214Arg) c.*524C>G (n.*524C>G) n.753C>G c.482C>G (p.Pro161Arg) n.375-71G>C n.306-71G>C | |
| 11 | g.27658170G>T | CA380074164 | BDNF,BDNF-AS | c.395C>A (p.Pro132His) c.419C>A (p.Pro140His) c.440C>A (p.Pro147His) c.641C>A (p.Pro214His) c.*524C>A (n.*524C>A) n.753C>A c.482C>A (p.Pro161His) n.375-71G>T n.306-71G>T | |
| 11 | g.27658171G>A | CA380074167 | BDNF,BDNF-AS | c.394C>T (p.Pro132Ser) c.418C>T (p.Pro140Ser) c.439C>T (p.Pro147Ser) c.640C>T (p.Pro214Ser) c.*523C>T (n.*523C>T) n.752C>T c.481C>T (p.Pro161Ser) n.375-70G>A n.306-70G>A | |
| 11 | g.27658171G>C | CA380074168 | BDNF,BDNF-AS | c.394C>G (p.Pro132Ala) c.418C>G (p.Pro140Ala) c.439C>G (p.Pro147Ala) c.640C>G (p.Pro214Ala) c.*523C>G (n.*523C>G) n.752C>G c.481C>G (p.Pro161Ala) n.375-70G>C n.306-70G>C | |
| 11 | g.27658171G>T | CA380074169 | BDNF,BDNF-AS | c.394C>A (p.Pro132Thr) c.418C>A (p.Pro140Thr) c.439C>A (p.Pro147Thr) c.640C>A (p.Pro214Thr) c.*523C>A (n.*523C>A) n.752C>A c.481C>A (p.Pro161Thr) n.375-70G>T n.306-70G>T | |
| 11 | g.27658172G>A | CA473781584 | BDNF,BDNF-AS | c.393C>T (p.Asp131=) c.417C>T (p.Asp139=) c.438C>T (p.Asp146=) c.639C>T (p.Asp213=) c.*522C>T (n.*522C>T) n.751C>T c.480C>T (p.Asp160=) n.375-69G>A n.306-69G>A | gnomAD v4 |
| 11 | g.27658172G>C | CA380074170 | BDNF,BDNF-AS | c.393C>G (p.Asp131Glu) c.417C>G (p.Asp139Glu) c.438C>G (p.Asp146Glu) c.639C>G (p.Asp213Glu) c.*522C>G (n.*522C>G) n.751C>G c.480C>G (p.Asp160Glu) n.375-69G>C n.306-69G>C | |
| 11 | g.27658172G>T | CA380074171 | BDNF,BDNF-AS | c.393C>A (p.Asp131Glu) c.417C>A (p.Asp139Glu) c.438C>A (p.Asp146Glu) c.639C>A (p.Asp213Glu) c.*522C>A (n.*522C>A) n.751C>A c.480C>A (p.Asp160Glu) n.375-69G>T n.306-69G>T | |
| 11 | g.27658173T>A | CA380074173 | BDNF,BDNF-AS | c.392A>T (p.Asp131Val) c.416A>T (p.Asp139Val) c.437A>T (p.Asp146Val) c.638A>T (p.Asp213Val) c.*521A>T (n.*521A>T) n.750A>T c.479A>T (p.Asp160Val) n.375-68T>A n.306-68T>A | |
| 11 | g.27658173T>C | CA380074172 | BDNF,BDNF-AS | c.392A>G (p.Asp131Gly) c.416A>G (p.Asp139Gly) c.437A>G (p.Asp146Gly) c.638A>G (p.Asp213Gly) c.*521A>G (n.*521A>G) n.750A>G c.479A>G (p.Asp160Gly) n.375-68T>C n.306-68T>C | |
| 11 | g.27658173T>G | CA219852066 | BDNF,BDNF-AS | c.392A>C (p.Asp131Ala) c.416A>C (p.Asp139Ala) c.437A>C (p.Asp146Ala) c.638A>C (p.Asp213Ala) c.*521A>C (n.*521A>C) n.750A>C c.479A>C (p.Asp160Ala) n.375-68T>G n.306-68T>G | dbSNP |
| 11 | g.27658173T= | CA1960092338 | BDNF,BDNF-AS | c.392A= (p.Asp131=) c.416A= (p.Asp139=) c.437A= (p.Asp146=) c.638A= (p.Asp213=) c.*521A= (n.*521A=) n.750A= c.479A= (p.Asp160=) n.375-68T= n.306-68T= | |
| 11 | g.27658174C>A | CA380074174 | BDNF,BDNF-AS | c.391G>T (p.Asp131Tyr) c.415G>T (p.Asp139Tyr) c.436G>T (p.Asp146Tyr) c.637G>T (p.Asp213Tyr) c.*520G>T (n.*520G>T) n.749G>T c.478G>T (p.Asp160Tyr) n.375-67C>A n.306-67C>A | |
| 11 | g.27658174C>G | CA380074175 | BDNF,BDNF-AS | c.391G>C (p.Asp131His) c.415G>C (p.Asp139His) c.436G>C (p.Asp146His) c.637G>C (p.Asp213His) c.*520G>C (n.*520G>C) n.749G>C c.478G>C (p.Asp160His) n.375-67C>G n.306-67C>G | |
| 11 | g.27658174C>T | CA380074176 | BDNF,BDNF-AS | c.391G>A (p.Asp131Asn) c.415G>A (p.Asp139Asn) c.436G>A (p.Asp146Asn) c.637G>A (p.Asp213Asn) c.*520G>A (n.*520G>A) n.749G>A c.478G>A (p.Asp160Asn) n.375-67C>T n.306-67C>T | |
| 11 | g.27658175A>C | CA473781587 | BDNF,BDNF-AS | c.390T>G (p.Ser130=) c.414T>G (p.Ser138=) c.435T>G (p.Ser145=) c.636T>G (p.Ser212=) c.*519T>G (n.*519T>G) n.748T>G c.477T>G (p.Ser159=) n.375-66A>C n.306-66A>C | gnomAD v4 |
| 11 | g.27658175A>G | CA473781588 | BDNF,BDNF-AS | c.390T>C (p.Ser130=) c.414T>C (p.Ser138=) c.435T>C (p.Ser145=) c.636T>C (p.Ser212=) c.*519T>C (n.*519T>C) n.748T>C c.477T>C (p.Ser159=) n.375-66A>G n.306-66A>G | |
| 11 | g.27658175A>T | CA473781589 | BDNF,BDNF-AS | c.390T>A (p.Ser130=) c.414T>A (p.Ser138=) c.435T>A (p.Ser145=) c.636T>A (p.Ser212=) c.*519T>A (n.*519T>A) n.748T>A c.477T>A (p.Ser159=) n.375-66A>T n.306-66A>T | |
| 11 | g.27658176G>A | CA380074177 | BDNF,BDNF-AS | c.389C>T (p.Ser130Phe) c.413C>T (p.Ser138Phe) c.434C>T (p.Ser145Phe) c.635C>T (p.Ser212Phe) c.*518C>T (n.*518C>T) n.747C>T c.476C>T (p.Ser159Phe) n.375-65G>A n.306-65G>A | |
| 11 | g.27658176G>C | CA380074178 | BDNF,BDNF-AS | c.389C>G (p.Ser130Cys) c.413C>G (p.Ser138Cys) c.434C>G (p.Ser145Cys) c.635C>G (p.Ser212Cys) c.*518C>G (n.*518C>G) n.747C>G c.476C>G (p.Ser159Cys) n.375-65G>C n.306-65G>C | gnomAD v4 |
| 11 | g.27658176G>T | CA380074179 | BDNF,BDNF-AS | c.389C>A (p.Ser130Tyr) c.413C>A (p.Ser138Tyr) c.434C>A (p.Ser145Tyr) c.635C>A (p.Ser212Tyr) c.*518C>A (n.*518C>A) n.747C>A c.476C>A (p.Ser159Tyr) n.375-65G>T n.306-65G>T | gnomAD v4 |
| 11 | g.27658177A>C | CA380074180 | BDNF,BDNF-AS | c.388T>G (p.Ser130Ala) c.412T>G (p.Ser138Ala) c.433T>G (p.Ser145Ala) c.634T>G (p.Ser212Ala) c.*517T>G (n.*517T>G) n.746T>G c.475T>G (p.Ser159Ala) n.375-64A>C n.306-64A>C | |
| 11 | g.27658177A>G | CA380074182 | BDNF,BDNF-AS | c.388T>C (p.Ser130Pro) c.412T>C (p.Ser138Pro) c.433T>C (p.Ser145Pro) c.634T>C (p.Ser212Pro) c.*517T>C (n.*517T>C) n.746T>C c.475T>C (p.Ser159Pro) n.375-64A>G n.306-64A>G | |
| 11 | g.27658177A>T | CA380074181 | BDNF,BDNF-AS | c.388T>A (p.Ser130Thr) c.412T>A (p.Ser138Thr) c.433T>A (p.Ser145Thr) c.634T>A (p.Ser212Thr) c.*517T>A (n.*517T>A) n.746T>A c.475T>A (p.Ser159Thr) n.375-64A>T n.306-64A>T | gnomAD v4 |
| 11 | g.27658178G>A | CA473781591 | BDNF,BDNF-AS | c.387C>T (p.His129=) c.411C>T (p.His137=) c.432C>T (p.His144=) c.633C>T (p.His211=) c.*516C>T (n.*516C>T) n.745C>T c.474C>T (p.His158=) n.375-63G>A n.306-63G>A | |
| 11 | g.27658178G>C | CA380074183 | BDNF,BDNF-AS | c.387C>G (p.His129Gln) c.411C>G (p.His137Gln) c.432C>G (p.His144Gln) c.633C>G (p.His211Gln) c.*516C>G (n.*516C>G) n.745C>G c.474C>G (p.His158Gln) n.375-63G>C n.306-63G>C | |
| 11 | g.27658178G>T | CA380074184 | BDNF,BDNF-AS | c.387C>A (p.His129Gln) c.411C>A (p.His137Gln) c.432C>A (p.His144Gln) c.633C>A (p.His211Gln) c.*516C>A (n.*516C>A) n.745C>A c.474C>A (p.His158Gln) n.375-63G>T n.306-63G>T | |
| 11 | g.27658179T>A | CA380074185 | BDNF,BDNF-AS | c.386A>T (p.His129Leu) c.410A>T (p.His137Leu) c.431A>T (p.His144Leu) c.632A>T (p.His211Leu) c.*515A>T (n.*515A>T) n.744A>T c.473A>T (p.His158Leu) n.375-62T>A n.306-62T>A | |
| 11 | g.27658179T>C | CA380074186 | BDNF,BDNF-AS | c.386A>G (p.His129Arg) c.410A>G (p.His137Arg) c.431A>G (p.His144Arg) c.632A>G (p.His211Arg) c.*515A>G (n.*515A>G) n.744A>G c.473A>G (p.His158Arg) n.375-62T>C n.306-62T>C | |
| 11 | g.27658179T>G | CA380074187 | BDNF,BDNF-AS | c.386A>C (p.His129Pro) c.410A>C (p.His137Pro) c.431A>C (p.His144Pro) c.632A>C (p.His211Pro) c.*515A>C (n.*515A>C) n.744A>C c.473A>C (p.His158Pro) n.375-62T>G n.306-62T>G | dbSNP |
| 11 | g.27658179T= | CA1960092341 | BDNF,BDNF-AS | c.386A= (p.His129=) c.410A= (p.His137=) c.431A= (p.His144=) c.632A= (p.His211=) c.*515A= (n.*515A=) n.744A= c.473A= (p.His158=) n.375-62T= n.306-62T= | |
| 11 | g.27658180G>A | CA380074188 | BDNF,BDNF-AS | c.385C>T (p.His129Tyr) c.409C>T (p.His137Tyr) c.430C>T (p.His144Tyr) c.631C>T (p.His211Tyr) c.*514C>T (n.*514C>T) n.743C>T c.472C>T (p.His158Tyr) n.375-61G>A n.306-61G>A | |
| 11 | g.27658180G>C | CA380074189 | BDNF,BDNF-AS | c.385C>G (p.His129Asp) c.409C>G (p.His137Asp) c.430C>G (p.His144Asp) c.631C>G (p.His211Asp) c.*514C>G (n.*514C>G) n.743C>G c.472C>G (p.His158Asp) n.375-61G>C n.306-61G>C | |
| 11 | g.27658180G>T | CA380074190 | BDNF,BDNF-AS | c.385C>A (p.His129Asn) c.409C>A (p.His137Asn) c.430C>A (p.His144Asn) c.631C>A (p.His211Asn) c.*514C>A (n.*514C>A) n.743C>A c.472C>A (p.His158Asn) n.375-61G>T n.306-61G>T | |
| 11 | g.27658181G>A | CA473781596 | BDNF,BDNF-AS | c.384C>T (p.Arg128=) c.408C>T (p.Arg136=) c.429C>T (p.Arg143=) c.630C>T (p.Arg210=) c.*513C>T (n.*513C>T) n.742C>T c.471C>T (p.Arg157=) n.375-60G>A n.306-60G>A | dbSNP |
| 11 | g.27658181G>C | CA473781597 | BDNF,BDNF-AS | c.384C>G (p.Arg128=) c.408C>G (p.Arg136=) c.429C>G (p.Arg143=) c.630C>G (p.Arg210=) c.*513C>G (n.*513C>G) n.742C>G c.471C>G (p.Arg157=) n.375-60G>C n.306-60G>C | |
| 11 | g.27658181G= | CA1960092343 | BDNF,BDNF-AS | c.384C= (p.Arg128=) c.408C= (p.Arg136=) c.429C= (p.Arg143=) c.630C= (p.Arg210=) c.*513C= (n.*513C=) n.742C= c.471C= (p.Arg157=) n.375-60G= n.306-60G= | |
| 11 | g.27658181G>T | CA473781598 | BDNF,BDNF-AS | c.384C>A (p.Arg128=) c.408C>A (p.Arg136=) c.429C>A (p.Arg143=) c.630C>A (p.Arg210=) c.*513C>A (n.*513C>A) n.742C>A c.471C>A (p.Arg157=) n.375-60G>T n.306-60G>T | |
| 11 | g.27658182C>A | CA380074191 | BDNF,BDNF-AS | c.383G>T (p.Arg128Leu) c.407G>T (p.Arg136Leu) c.428G>T (p.Arg143Leu) c.629G>T (p.Arg210Leu) c.*512G>T (n.*512G>T) n.741G>T c.470G>T (p.Arg157Leu) n.375-59C>A n.306-59C>A | |
| 11 | g.27658182C>G | CA380074192 | BDNF,BDNF-AS | c.383G>C (p.Arg128Pro) c.407G>C (p.Arg136Pro) c.428G>C (p.Arg143Pro) c.629G>C (p.Arg210Pro) c.*512G>C (n.*512G>C) n.741G>C c.470G>C (p.Arg157Pro) n.375-59C>G n.306-59C>G | |
| 11 | g.27658182C>T | CA380074193 | BDNF,BDNF-AS | c.383G>A (p.Arg128His) c.407G>A (p.Arg136His) c.428G>A (p.Arg143His) c.629G>A (p.Arg210His) c.*512G>A (n.*512G>A) n.741G>A c.470G>A (p.Arg157His) n.375-59C>T n.306-59C>T | COSMIC COSMIC COSMIC |
| 11 | g.27658183G>A | CA380074196 | BDNF,BDNF-AS | c.382C>T (p.Arg128Cys) c.406C>T (p.Arg136Cys) c.427C>T (p.Arg143Cys) c.628C>T (p.Arg210Cys) c.*511C>T (n.*511C>T) n.740C>T c.469C>T (p.Arg157Cys) n.375-58G>A n.306-58G>A | |
| 11 | g.27658183G>C | CA380074194 | BDNF,BDNF-AS | c.382C>G (p.Arg128Gly) c.406C>G (p.Arg136Gly) c.427C>G (p.Arg143Gly) c.628C>G (p.Arg210Gly) c.*511C>G (n.*511C>G) n.740C>G c.469C>G (p.Arg157Gly) n.375-58G>C n.306-58G>C | |
| 11 | g.27658183G>T | CA380074195 | BDNF,BDNF-AS | c.382C>A (p.Arg128Ser) c.406C>A (p.Arg136Ser) c.427C>A (p.Arg143Ser) c.628C>A (p.Arg210Ser) c.*511C>A (n.*511C>A) n.740C>A c.469C>A (p.Arg157Ser) n.375-58G>T n.306-58G>T | |
| 11 | g.27658184C>A | CA473781600 | BDNF,BDNF-AS | c.381G>T (p.Arg127=) c.405G>T (p.Arg135=) c.426G>T (p.Arg142=) c.627G>T (p.Arg209=) c.*510G>T (n.*510G>T) n.739G>T c.468G>T (p.Arg156=) n.375-57C>A n.306-57C>A | |
| 11 | g.27658184C>G | CA473781601 | BDNF,BDNF-AS | c.381G>C (p.Arg127=) c.405G>C (p.Arg135=) c.426G>C (p.Arg142=) c.627G>C (p.Arg209=) c.*510G>C (n.*510G>C) n.739G>C c.468G>C (p.Arg156=) n.375-57C>G n.306-57C>G | |
| 11 | g.27658184C>T | CA473781602 | BDNF,BDNF-AS | c.381G>A (p.Arg127=) c.405G>A (p.Arg135=) c.426G>A (p.Arg142=) c.627G>A (p.Arg209=) c.*510G>A (n.*510G>A) n.739G>A c.468G>A (p.Arg156=) n.375-57C>T n.306-57C>T | |
| 11 | g.27658185C>A | CA219852067 | BDNF,BDNF-AS | c.380G>T (p.Arg127Leu) c.404G>T (p.Arg135Leu) c.425G>T (p.Arg142Leu) c.626G>T (p.Arg209Leu) c.*509G>T (n.*509G>T) n.738G>T c.467G>T (p.Arg156Leu) n.375-56C>A n.306-56C>A | dbSNP |
| 11 | g.27658185C= | CA1960092346 | BDNF,BDNF-AS | c.380G= (p.Arg127=) c.404G= (p.Arg135=) c.425G= (p.Arg142=) c.626G= (p.Arg209=) c.*509G= (n.*509G=) n.738G= c.467G= (p.Arg156=) n.375-56C= n.306-56C= |