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 |
|---|---|---|---|---|---|
| 1 | g.214657076G>A | CA37381001 | CENPF | c.8452G>A (p.Ala2818Thr) n.728G>A c.8629G>A (p.Ala2877Thr) n.400G>A c.7564G>A (p.Ala2522Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.214657076G>C | CA344856798 | CENPF | c.8452G>C (p.Ala2818Pro) n.728G>C c.8629G>C (p.Ala2877Pro) n.400G>C c.7564G>C (p.Ala2522Pro) | |
| 1 | g.214657076G= | CA2486377596 | CENPF | c.8452G= (p.Ala2818=) n.728G= c.8629G= (p.Ala2877=) n.400G= c.7564G= (p.Ala2522=) | |
| 1 | g.214657076G>T | CA344856799 | CENPF | c.8452G>T (p.Ala2818Ser) n.728G>T c.8629G>T (p.Ala2877Ser) n.400G>T c.7564G>T (p.Ala2522Ser) | |
| 1 | g.214657077C>A | CA344856800 | CENPF | c.8453C>A (p.Ala2818Asp) n.729C>A c.8630C>A (p.Ala2877Asp) n.401C>A c.7565C>A (p.Ala2522Asp) | |
| 1 | g.214657077C>G | CA344856801 | CENPF | c.8453C>G (p.Ala2818Gly) n.729C>G c.8630C>G (p.Ala2877Gly) n.401C>G c.7565C>G (p.Ala2522Gly) | |
| 1 | g.214657077C>T | CA344856802 | CENPF | c.8453C>T (p.Ala2818Val) n.729C>T c.8630C>T (p.Ala2877Val) n.401C>T c.7565C>T (p.Ala2522Val) | |
| 1 | g.214657078T>A | CA423429464 | CENPF | c.8454T>A (p.Ala2818=) n.730T>A c.8631T>A (p.Ala2877=) n.402T>A c.7566T>A (p.Ala2522=) | |
| 1 | g.214657078T>C | CA423429465 | CENPF | c.8454T>C (p.Ala2818=) n.730T>C c.8631T>C (p.Ala2877=) n.402T>C c.7566T>C (p.Ala2522=) | gnomAD v4 |
| 1 | g.214657078T>G | CA423429467 | CENPF | c.8454T>G (p.Ala2818=) n.730T>G c.8631T>G (p.Ala2877=) n.402T>G c.7566T>G (p.Ala2522=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.214657078T= | CA2486377597 | CENPF | c.8454T= (p.Ala2818=) n.730T= c.8631T= (p.Ala2877=) n.402T= c.7566T= (p.Ala2522=) | |
| 1 | g.214657079A>C | CA344856805 | CENPF | c.8455A>C (p.Lys2819Gln) n.731A>C c.8632A>C (p.Lys2878Gln) n.403A>C c.7567A>C (p.Lys2523Gln) | |
| 1 | g.214657079A>G | CA344856803 | CENPF | c.8455A>G (p.Lys2819Glu) n.731A>G c.8632A>G (p.Lys2878Glu) n.403A>G c.7567A>G (p.Lys2523Glu) | |
| 1 | g.214657079A>T | CA344856804 | CENPF | c.8455A>T (p.Lys2819Ter) n.731A>T c.8632A>T (p.Lys2878Ter) n.403A>T c.7567A>T (p.Lys2523Ter) | |
| 1 | g.214657080_214657081del | CA2747692468 | CENPF | c.8456_8457del (p.Lys2819ArgfsTer16) n.732_733del c.8633_8634del (p.Lys2878ArgfsTer16) n.404_405del c.7568_7569del (p.Lys2523ArgfsTer16) | |
| 1 | g.214657080A= | CA2486377600 | CENPF | c.8456A= (p.Lys2819=) n.732A= c.8633A= (p.Lys2878=) n.404A= c.7568A= (p.Lys2523=) | |
| 1 | g.214657080A>C | CA344856806 | CENPF | c.8456A>C (p.Lys2819Thr) n.732A>C c.8633A>C (p.Lys2878Thr) n.404A>C c.7568A>C (p.Lys2523Thr) | |
| 1 | g.214657080A>G | CA344856807 | CENPF | c.8456A>G (p.Lys2819Arg) n.732A>G c.8633A>G (p.Lys2878Arg) n.404A>G c.7568A>G (p.Lys2523Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.214657080A>T | CA344856808 | CENPF | c.8456A>T (p.Lys2819Ile) n.732A>T c.8633A>T (p.Lys2878Ile) n.404A>T c.7568A>T (p.Lys2523Ile) | |
| 1 | g.214657081A>C | CA344856809 | CENPF | c.8457A>C (p.Lys2819Asn) n.733A>C c.8634A>C (p.Lys2878Asn) n.405A>C c.7569A>C (p.Lys2523Asn) | |
| 1 | g.214657081A>G | CA423429472 | CENPF | c.8457A>G (p.Lys2819=) n.733A>G c.8634A>G (p.Lys2878=) n.405A>G c.7569A>G (p.Lys2523=) | |
| 1 | g.214657081A>T | CA344856810 | CENPF | c.8457A>T (p.Lys2819Asn) n.733A>T c.8634A>T (p.Lys2878Asn) n.405A>T c.7569A>T (p.Lys2523Asn) | |
| 1 | g.214657082G>A | CA37381004 | CENPF | c.8458G>A (p.Glu2820Lys) n.734G>A c.8635G>A (p.Glu2879Lys) n.406G>A c.7570G>A (p.Glu2524Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.214657082G>C | CA344856811 | CENPF | c.8458G>C (p.Glu2820Gln) n.734G>C c.8635G>C (p.Glu2879Gln) n.406G>C c.7570G>C (p.Glu2524Gln) | |
| 1 | g.214657082G= | CA1144015632 | CENPF | c.8458G= (p.Glu2820=) n.734G= c.8635G= (p.Glu2879=) n.406G= c.7570G= (p.Glu2524=) | |
| 1 | g.214657082G>T | CA344856812 | CENPF | c.8458G>T (p.Glu2820Ter) n.734G>T c.8635G>T (p.Glu2879Ter) n.406G>T c.7570G>T (p.Glu2524Ter) | |
| 1 | g.214657083A= | CA2486377603 | CENPF | c.8459A= (p.Glu2820=) n.735A= c.8636A= (p.Glu2879=) n.407A= c.7571A= (p.Glu2524=) | |
| 1 | g.214657083A>C | CA344856813 | CENPF | c.8459A>C (p.Glu2820Ala) n.735A>C c.8636A>C (p.Glu2879Ala) n.407A>C c.7571A>C (p.Glu2524Ala) | |
| 1 | g.214657083A>G | CA344856814 | CENPF | c.8459A>G (p.Glu2820Gly) n.735A>G c.8636A>G (p.Glu2879Gly) n.407A>G c.7571A>G (p.Glu2524Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.214657083A>T | CA344856815 | CENPF | c.8459A>T (p.Glu2820Val) n.735A>T c.8636A>T (p.Glu2879Val) n.407A>T c.7571A>T (p.Glu2524Val) | |
| 1 | g.214657084G>A | CA423429477 | CENPF | c.8460G>A (p.Glu2820=) n.736G>A c.8637G>A (p.Glu2879=) n.408G>A c.7572G>A (p.Glu2524=) | gnomAD v4 |
| 1 | g.214657084G>C | CA344856816 | CENPF | c.8460G>C (p.Glu2820Asp) n.736G>C c.8637G>C (p.Glu2879Asp) n.408G>C c.7572G>C (p.Glu2524Asp) | |
| 1 | g.214657084G>T | CA344856817 | CENPF | c.8460G>T (p.Glu2820Asp) n.736G>T c.8637G>T (p.Glu2879Asp) n.408G>T c.7572G>T (p.Glu2524Asp) | |
| 1 | g.214657085A>C | CA344856818 | CENPF | c.8461A>C (p.Met2821Leu) n.737A>C c.8638A>C (p.Met2880Leu) n.409A>C c.7573A>C (p.Met2525Leu) | |
| 1 | g.214657085A>G | CA344856819 | CENPF | c.8461A>G (p.Met2821Val) n.737A>G c.8638A>G (p.Met2880Val) n.409A>G c.7573A>G (p.Met2525Val) | COSMIC |
| 1 | g.214657085A>T | CA344856820 | CENPF | c.8461A>T (p.Met2821Leu) n.737A>T c.8638A>T (p.Met2880Leu) n.409A>T c.7573A>T (p.Met2525Leu) | |
| 1 | g.214657086T>A | CA344856821 | CENPF | c.8462T>A (p.Met2821Lys) n.738T>A c.8639T>A (p.Met2880Lys) n.410T>A c.7574T>A (p.Met2525Lys) | |
| 1 | g.214657086T>C | CA344856822 | CENPF | c.8462T>C (p.Met2821Thr) n.738T>C c.8639T>C (p.Met2880Thr) n.410T>C c.7574T>C (p.Met2525Thr) | |
| 1 | g.214657086T>G | CA344856823 | CENPF | c.8462T>G (p.Met2821Arg) n.738T>G c.8639T>G (p.Met2880Arg) n.410T>G c.7574T>G (p.Met2525Arg) | |
| 1 | g.214657087G>A | CA344856824 | CENPF | c.8463G>A (p.Met2821Ile) n.739G>A c.8640G>A (p.Met2880Ile) n.411G>A c.7575G>A (p.Met2525Ile) | |
| 1 | g.214657087G>C | CA344856825 | CENPF | c.8463G>C (p.Met2821Ile) n.739G>C c.8640G>C (p.Met2880Ile) n.411G>C c.7575G>C (p.Met2525Ile) | |
| 1 | g.214657087G>T | CA344856826 | CENPF | c.8463G>T (p.Met2821Ile) n.739G>T c.8640G>T (p.Met2880Ile) n.411G>T c.7575G>T (p.Met2525Ile) | |
| 1 | g.214657088T>A | CA344856827 | CENPF | c.8464T>A (p.Leu2822Ile) n.740T>A c.8641T>A (p.Leu2881Ile) n.412T>A c.7576T>A (p.Leu2526Ile) | |
| 1 | g.214657088T>C | CA423429484 | CENPF | c.8464T>C (p.Leu2822=) n.740T>C c.8641T>C (p.Leu2881=) n.412T>C c.7576T>C (p.Leu2526=) | |
| 1 | g.214657088T>G | CA344856828 | CENPF | c.8464T>G (p.Leu2822Val) n.740T>G c.8641T>G (p.Leu2881Val) n.412T>G c.7576T>G (p.Leu2526Val) | |
| 1 | g.214657089T>A | CA344856831 | CENPF | c.8465T>A (p.Leu2822Ter) n.741T>A c.8642T>A (p.Leu2881Ter) n.413T>A c.7577T>A (p.Leu2526Ter) | |
| 1 | g.214657089T>C | CA344856830 | CENPF | c.8465T>C (p.Leu2822Ser) n.741T>C c.8642T>C (p.Leu2881Ser) n.413T>C c.7577T>C (p.Leu2526Ser) | dbSNP |
| 1 | g.214657089T>G | CA344856829 | CENPF | c.8465T>G (p.Leu2822Ter) n.741T>G c.8642T>G (p.Leu2881Ter) n.413T>G c.7577T>G (p.Leu2526Ter) | |
| 1 | g.214657089T= | CA2486377607 | CENPF | c.8465T= (p.Leu2822=) n.741T= c.8642T= (p.Leu2881=) n.413T= c.7577T= (p.Leu2526=) | |
| 1 | g.214657090A>C | CA344856832 | CENPF | c.8466A>C (p.Leu2822Phe) n.742A>C c.8643A>C (p.Leu2881Phe) n.414A>C c.7578A>C (p.Leu2526Phe) |