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 |
|---|---|---|---|---|---|
| 14 | g.91234834A>C | CA390607177 | GPR68 | c.217T>G (p.Ser73Ala) c.247T>G (p.Ser83Ala) | |
| 14 | g.91234834A>G | CA390607178 | GPR68 | c.217T>C (p.Ser73Pro) c.247T>C (p.Ser83Pro) | |
| 14 | g.91234834A>T | CA390607179 | GPR68 | c.217T>A (p.Ser73Thr) c.247T>A (p.Ser83Thr) | |
| 14 | g.91234835del | CA2626123497 | GPR68 | c.216del (p.Ser73ArgfsTer?) c.246del (p.Ser83ArgfsTer?) | gnomAD v4 |
| 14 | g.91234835G>A | CA7308402 | GPR68 | c.216C>T (p.Cys72=) c.246C>T (p.Cys82=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.91234835G>C | CA390607180 | GPR68 | c.216C>G (p.Cys72Trp) c.246C>G (p.Cys82Trp) | |
| 14 | g.91234835G= | CA2154863327 | GPR68 | c.216C= (p.Cys72=) c.246C= (p.Cys82=) | |
| 14 | g.91234835G>T | CA390607181 | GPR68 | c.216C>A (p.Cys72Ter) c.246C>A (p.Cys82Ter) | gnomAD v4 |
| 14 | g.91234836C>A | CA390607182 | GPR68 | c.215G>T (p.Cys72Phe) c.245G>T (p.Cys82Phe) | |
| 14 | g.91234836C>G | CA390607183 | GPR68 | c.215G>C (p.Cys72Ser) c.245G>C (p.Cys82Ser) | |
| 14 | g.91234836C>T | CA390607184 | GPR68 | c.215G>A (p.Cys72Tyr) c.245G>A (p.Cys82Tyr) | |
| 14 | g.91234837A>C | CA390607187 | GPR68 | c.214T>G (p.Cys72Gly) c.244T>G (p.Cys82Gly) | |
| 14 | g.91234837A>G | CA390607185 | GPR68 | c.214T>C (p.Cys72Arg) c.244T>C (p.Cys82Arg) | |
| 14 | g.91234837A>T | CA390607186 | GPR68 | c.214T>A (p.Cys72Ser) c.244T>A (p.Cys82Ser) | |
| 14 | g.91234838G>A | CA487828572 | GPR68 | c.213C>T (p.Ile71=) c.243C>T (p.Ile81=) | gnomAD v4 |
| 14 | g.91234838G>C | CA390607188 | GPR68 | c.213C>G (p.Ile71Met) c.243C>G (p.Ile81Met) | |
| 14 | g.91234838G>T | CA487828573 | GPR68 | c.213C>A (p.Ile71=) c.243C>A (p.Ile81=) | |
| 14 | g.91234839A>C | CA390607189 | GPR68 | c.212T>G (p.Ile71Ser) c.242T>G (p.Ile81Ser) | |
| 14 | g.91234839A>G | CA390607190 | GPR68 | c.212T>C (p.Ile71Thr) c.242T>C (p.Ile81Thr) | |
| 14 | g.91234839A>T | CA390607191 | GPR68 | c.212T>A (p.Ile71Asn) c.242T>A (p.Ile81Asn) | |
| 14 | g.91234840T>A | CA390607192 | GPR68 | c.211A>T (p.Ile71Phe) c.241A>T (p.Ile81Phe) | |
| 14 | g.91234840T>C | CA390607193 | GPR68 | c.211A>G (p.Ile71Val) c.241A>G (p.Ile81Val) | |
| 14 | g.91234840T>G | CA390607194 | GPR68 | c.211A>C (p.Ile71Leu) c.241A>C (p.Ile81Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.91234840T= | CA2154863328 | GPR68 | c.211A= (p.Ile71=) c.241A= (p.Ile81=) | |
| 14 | g.91234841G>A | CA487828576 | GPR68 | c.210C>T (p.Tyr70=) c.240C>T (p.Tyr80=) | gnomAD v4 |
| 14 | g.91234841G>C | CA390607195 | GPR68 | c.210C>G (p.Tyr70Ter) c.240C>G (p.Tyr80Ter) | |
| 14 | g.91234841G>T | CA390607196 | GPR68 | c.210C>A (p.Tyr70Ter) c.240C>A (p.Tyr80Ter) | |
| 14 | g.91234842T>A | CA390607197 | GPR68 | c.209A>T (p.Tyr70Phe) c.239A>T (p.Tyr80Phe) | |
| 14 | g.91234842T>C | CA390607198 | GPR68 | c.209A>G (p.Tyr70Cys) c.239A>G (p.Tyr80Cys) | |
| 14 | g.91234842T>G | CA390607199 | GPR68 | c.209A>C (p.Tyr70Ser) c.239A>C (p.Tyr80Ser) | |
| 14 | g.91234843A= | CA2154863329 | GPR68 | c.208T= (p.Tyr70=) c.238T= (p.Tyr80=) | |
| 14 | g.91234843A>C | CA390607202 | GPR68 | c.208T>G (p.Tyr70Asp) c.238T>G (p.Tyr80Asp) | dbSNP |
| 14 | g.91234843A>G | CA390607200 | GPR68 | c.208T>C (p.Tyr70His) c.238T>C (p.Tyr80His) | gnomAD v4 |
| 14 | g.91234843A>T | CA390607201 | GPR68 | c.208T>A (p.Tyr70Asn) c.238T>A (p.Tyr80Asn) | |
| 14 | g.91234844G>A | CA487828583 | GPR68 | c.207C>T (p.Phe69=) c.237C>T (p.Phe79=) | |
| 14 | g.91234844G>C | CA390607203 | GPR68 | c.207C>G (p.Phe69Leu) c.237C>G (p.Phe79Leu) | |
| 14 | g.91234844G>T | CA390607204 | GPR68 | c.207C>A (p.Phe69Leu) c.237C>A (p.Phe79Leu) | |
| 14 | g.91234845A= | CA2154863330 | GPR68 | c.206T= (p.Phe69=) c.236T= (p.Phe79=) | |
| 14 | g.91234845A>C | CA390607205 | GPR68 | c.206T>G (p.Phe69Cys) c.236T>G (p.Phe79Cys) | |
| 14 | g.91234845A>G | CA390607206 | GPR68 | c.206T>C (p.Phe69Ser) c.236T>C (p.Phe79Ser) | dbSNP |
| 14 | g.91234845A>T | CA390607207 | GPR68 | c.206T>A (p.Phe69Tyr) c.236T>A (p.Phe79Tyr) | |
| 14 | g.91234845_91234846del | CA2597948214 | GPR68 | c.205_206del (p.Phe69LeufsTer?) c.235_236del (p.Phe79LeufsTer?) | gnomAD v3 gnomAD v4 |
| 14 | g.91234846A>C | CA390607208 | GPR68 | c.205T>G (p.Phe69Val) c.235T>G (p.Phe79Val) | gnomAD v4 |
| 14 | g.91234846A>G | CA390607209 | GPR68 | c.205T>C (p.Phe69Leu) c.235T>C (p.Phe79Leu) | |
| 14 | g.91234846A>T | CA390607210 | GPR68 | c.205T>A (p.Phe69Ile) c.235T>A (p.Phe79Ile) | |
| 14 | g.91234847G>A | CA487828591 | GPR68 | c.204C>T (p.Leu68=) c.234C>T (p.Leu78=) | |
| 14 | g.91234847G>C | CA487828592 | GPR68 | c.204C>G (p.Leu68=) c.234C>G (p.Leu78=) | |
| 14 | g.91234847G>T | CA487828593 | GPR68 | c.204C>A (p.Leu68=) c.234C>A (p.Leu78=) | |
| 14 | g.91234848A>C | CA390607211 | GPR68 | c.203T>G (p.Leu68Arg) c.233T>G (p.Leu78Arg) | |
| 14 | g.91234848A>G | CA390607212 | GPR68 | c.203T>C (p.Leu68Pro) c.233T>C (p.Leu78Pro) |