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.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= | |
| 11 | g.27658185C>G | CA380074197 | BDNF,BDNF-AS | c.380G>C (p.Arg127Pro) c.404G>C (p.Arg135Pro) c.425G>C (p.Arg142Pro) c.626G>C (p.Arg209Pro) c.*509G>C (n.*509G>C) n.738G>C c.467G>C (p.Arg156Pro) n.375-56C>G n.306-56C>G | |
| 11 | g.27658185C>T | CA380074198 | BDNF,BDNF-AS | c.380G>A (p.Arg127Gln) c.404G>A (p.Arg135Gln) c.425G>A (p.Arg142Gln) c.626G>A (p.Arg209Gln) c.*509G>A (n.*509G>A) n.738G>A c.467G>A (p.Arg156Gln) n.375-56C>T n.306-56C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 11 | g.27658186G>A | CA380074199 | BDNF,BDNF-AS | c.379C>T (p.Arg127Trp) c.403C>T (p.Arg135Trp) c.424C>T (p.Arg142Trp) c.625C>T (p.Arg209Trp) c.*508C>T (n.*508C>T) n.737C>T c.466C>T (p.Arg156Trp) n.375-55G>A n.306-55G>A | COSMIC COSMIC COSMIC |
| 11 | g.27658186G>C | CA380074200 | BDNF,BDNF-AS | c.379C>G (p.Arg127Gly) c.403C>G (p.Arg135Gly) c.424C>G (p.Arg142Gly) c.625C>G (p.Arg209Gly) c.*508C>G (n.*508C>G) n.737C>G c.466C>G (p.Arg156Gly) n.375-55G>C n.306-55G>C | |
| 11 | g.27658186G>T | CA473781605 | BDNF,BDNF-AS | c.379C>A (p.Arg127=) c.403C>A (p.Arg135=) c.424C>A (p.Arg142=) c.625C>A (p.Arg209=) c.*508C>A (n.*508C>A) n.737C>A c.466C>A (p.Arg156=) n.375-55G>T n.306-55G>T | |
| 11 | g.27658187G>A | CA473781611 | BDNF,BDNF-AS | c.378C>T (p.Val126=) c.402C>T (p.Val134=) c.423C>T (p.Val141=) c.624C>T (p.Val208=) c.*507C>T (n.*507C>T) n.736C>T c.465C>T (p.Val155=) n.375-54G>A n.306-54G>A | |
| 11 | g.27658187G>C | CA473781610 | BDNF,BDNF-AS | c.378C>G (p.Val126=) c.402C>G (p.Val134=) c.423C>G (p.Val141=) c.624C>G (p.Val208=) c.*507C>G (n.*507C>G) n.736C>G c.465C>G (p.Val155=) n.375-54G>C n.306-54G>C | |
| 11 | g.27658187G>T | CA473781608 | BDNF,BDNF-AS | c.378C>A (p.Val126=) c.402C>A (p.Val134=) c.423C>A (p.Val141=) c.624C>A (p.Val208=) c.*507C>A (n.*507C>A) n.736C>A c.465C>A (p.Val155=) n.375-54G>T n.306-54G>T | |
| 11 | g.27658188A>C | CA380074201 | BDNF,BDNF-AS | c.377T>G (p.Val126Gly) c.401T>G (p.Val134Gly) c.422T>G (p.Val141Gly) c.623T>G (p.Val208Gly) c.*506T>G (n.*506T>G) n.735T>G c.464T>G (p.Val155Gly) n.375-53A>C n.306-53A>C | |
| 11 | g.27658188A>G | CA380074202 | BDNF,BDNF-AS | c.377T>C (p.Val126Ala) c.401T>C (p.Val134Ala) c.422T>C (p.Val141Ala) c.623T>C (p.Val208Ala) c.*506T>C (n.*506T>C) n.735T>C c.464T>C (p.Val155Ala) n.375-53A>G n.306-53A>G | |
| 11 | g.27658188A>T | CA380074203 | BDNF,BDNF-AS | c.377T>A (p.Val126Asp) c.401T>A (p.Val134Asp) c.422T>A (p.Val141Asp) c.623T>A (p.Val208Asp) c.*506T>A (n.*506T>A) n.735T>A c.464T>A (p.Val155Asp) n.375-53A>T n.306-53A>T | |
| 11 | g.27658189C>A | CA380074204 | BDNF,BDNF-AS | c.376G>T (p.Val126Phe) c.400G>T (p.Val134Phe) c.421G>T (p.Val141Phe) c.622G>T (p.Val208Phe) c.*505G>T (n.*505G>T) n.734G>T c.463G>T (p.Val155Phe) n.375-52C>A n.306-52C>A | gnomAD v4 |
| 11 | g.27658189C>G | CA380074205 | BDNF,BDNF-AS | c.376G>C (p.Val126Leu) c.400G>C (p.Val134Leu) c.421G>C (p.Val141Leu) c.622G>C (p.Val208Leu) c.*505G>C (n.*505G>C) n.734G>C c.463G>C (p.Val155Leu) n.375-52C>G n.306-52C>G | |
| 11 | g.27658189C>T | CA380074206 | BDNF,BDNF-AS | c.376G>A (p.Val126Ile) c.400G>A (p.Val134Ile) c.421G>A (p.Val141Ile) c.622G>A (p.Val208Ile) c.*505G>A (n.*505G>A) n.734G>A c.463G>A (p.Val155Ile) n.375-52C>T n.306-52C>T | |
| 11 | g.27658190C>A | CA380074207 | BDNF,BDNF-AS | c.375G>T (p.Arg125Ser) c.399G>T (p.Arg133Ser) c.420G>T (p.Arg140Ser) c.621G>T (p.Arg207Ser) c.*504G>T (n.*504G>T) n.733G>T c.462G>T (p.Arg154Ser) n.375-51C>A n.306-51C>A | |
| 11 | g.27658190C= | CA1960092349 | BDNF,BDNF-AS | c.375G= (p.Arg125=) c.399G= (p.Arg133=) c.420G= (p.Arg140=) c.621G= (p.Arg207=) c.*504G= (n.*504G=) n.733G= c.462G= (p.Arg154=) n.375-51C= n.306-51C= |