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 |
|---|---|---|---|---|---|
| 6 | g.29672645A>C | CA363043113 | ZFP57 | c.1466T>G (p.Val489Gly) c.1250T>G (p.Val417Gly) c.1214T>G (p.Val405Gly) c.1406T>G (p.Val469Gly) | |
| 6 | g.29672645A>G | CA363043112 | ZFP57 | c.1466T>C (p.Val489Ala) c.1250T>C (p.Val417Ala) c.1214T>C (p.Val405Ala) c.1406T>C (p.Val469Ala) | |
| 6 | g.29672645A>T | CA363043111 | ZFP57 | c.1466T>A (p.Val489Asp) c.1250T>A (p.Val417Asp) c.1214T>A (p.Val405Asp) c.1406T>A (p.Val469Asp) | |
| 6 | g.29672646C>A | CA363043115 | ZFP57 | c.1465G>T (p.Val489Phe) c.1249G>T (p.Val417Phe) c.1213G>T (p.Val405Phe) c.1405G>T (p.Val469Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.29672646C= | CA1618398828 | ZFP57 | c.1465G= (p.Val489=) c.1249G= (p.Val417=) c.1213G= (p.Val405=) c.1405G= (p.Val469=) | |
| 6 | g.29672646C>G | CA363043114 | ZFP57 | c.1465G>C (p.Val489Leu) c.1249G>C (p.Val417Leu) c.1213G>C (p.Val405Leu) c.1405G>C (p.Val469Leu) | |
| 6 | g.29672646C>T | CA363043116 | ZFP57 | c.1465G>A (p.Val489Ile) c.1249G>A (p.Val417Ile) c.1213G>A (p.Val405Ile) c.1405G>A (p.Val469Ile) | |
| 6 | g.29672647A>C | CA363043117 | ZFP57 | c.1464T>G (p.Asp488Glu) c.1248T>G (p.Asp416Glu) c.1212T>G (p.Asp404Glu) c.1404T>G (p.Asp468Glu) | |
| 6 | g.29672647A>G | CA449458327 | ZFP57 | c.1464T>C (p.Asp488=) c.1248T>C (p.Asp416=) c.1212T>C (p.Asp404=) c.1404T>C (p.Asp468=) | gnomAD v4 |
| 6 | g.29672647A>T | CA363043118 | ZFP57 | c.1464T>A (p.Asp488Glu) c.1248T>A (p.Asp416Glu) c.1212T>A (p.Asp404Glu) c.1404T>A (p.Asp468Glu) | |
| 6 | g.29672648T>A | CA363043119 | ZFP57 | c.1463A>T (p.Asp488Val) c.1247A>T (p.Asp416Val) c.1211A>T (p.Asp404Val) c.1403A>T (p.Asp468Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.29672648T>C | CA135974378 | ZFP57 | c.1463A>G (p.Asp488Gly) c.1247A>G (p.Asp416Gly) c.1211A>G (p.Asp404Gly) c.1403A>G (p.Asp468Gly) | dbSNP |
| 6 | g.29672648T>G | CA363043121 | ZFP57 | c.1463A>C (p.Asp488Ala) c.1247A>C (p.Asp416Ala) c.1211A>C (p.Asp404Ala) c.1403A>C (p.Asp468Ala) | |
| 6 | g.29672648T= | CA1618398829 | ZFP57 | c.1463A= (p.Asp488=) c.1247A= (p.Asp416=) c.1211A= (p.Asp404=) c.1403A= (p.Asp468=) | |
| 6 | g.29672649C>A | CA363043123 | ZFP57 | c.1462G>T (p.Asp488Tyr) c.1246G>T (p.Asp416Tyr) c.1210G>T (p.Asp404Tyr) c.1402G>T (p.Asp468Tyr) | |
| 6 | g.29672649C>G | CA363043124 | ZFP57 | c.1462G>C (p.Asp488His) c.1246G>C (p.Asp416His) c.1210G>C (p.Asp404His) c.1402G>C (p.Asp468His) | |
| 6 | g.29672649C>T | CA363043125 | ZFP57 | c.1462G>A (p.Asp488Asn) c.1246G>A (p.Asp416Asn) c.1210G>A (p.Asp404Asn) c.1402G>A (p.Asp468Asn) | |
| 6 | g.29672650A= | CA1618398830 | ZFP57 | c.1461T= (p.His487=) c.1245T= (p.His415=) c.1209T= (p.His403=) c.1401T= (p.His467=) | |
| 6 | g.29672650A>C | CA363043127 | ZFP57 | c.1461T>G (p.His487Gln) c.1245T>G (p.His415Gln) c.1209T>G (p.His403Gln) c.1401T>G (p.His467Gln) | gnomAD v4 |
| 6 | g.29672650A>G | CA449458329 | ZFP57 | c.1461T>C (p.His487=) c.1245T>C (p.His415=) c.1209T>C (p.His403=) c.1401T>C (p.His467=) | |
| 6 | g.29672650A>T | CA363043128 | ZFP57 | c.1461T>A (p.His487Gln) c.1245T>A (p.His415Gln) c.1209T>A (p.His403Gln) c.1401T>A (p.His467Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.29672651T>A | CA363043129 | ZFP57 | c.1460A>T (p.His487Leu) c.1244A>T (p.His415Leu) c.1208A>T (p.His403Leu) c.1400A>T (p.His467Leu) | gnomAD v4 |
| 6 | g.29672651T>C | CA363043130 | ZFP57 | c.1460A>G (p.His487Arg) c.1244A>G (p.His415Arg) c.1208A>G (p.His403Arg) c.1400A>G (p.His467Arg) | dbSNP gnomAD v4 |
| 6 | g.29672651T>G | CA363043132 | ZFP57 | c.1460A>C (p.His487Pro) c.1244A>C (p.His415Pro) c.1208A>C (p.His403Pro) c.1400A>C (p.His467Pro) | |
| 6 | g.29672651T= | CA1618398831 | ZFP57 | c.1460A= (p.His487=) c.1244A= (p.His415=) c.1208A= (p.His403=) c.1400A= (p.His467=) | |
| 6 | g.29672652G>A | CA3690680 | ZFP57 | c.1459C>T (p.His487Tyr) c.1243C>T (p.His415Tyr) c.1207C>T (p.His403Tyr) c.1399C>T (p.His467Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.29672652G>C | CA363043133 | ZFP57 | c.1459C>G (p.His487Asp) c.1243C>G (p.His415Asp) c.1207C>G (p.His403Asp) c.1399C>G (p.His467Asp) | |
| 6 | g.29672652G= | CA1618398832 | ZFP57 | c.1459C= (p.His487=) c.1243C= (p.His415=) c.1207C= (p.His403=) c.1399C= (p.His467=) | |
| 6 | g.29672652G>T | CA363043134 | ZFP57 | c.1459C>A (p.His487Asn) c.1243C>A (p.His415Asn) c.1207C>A (p.His403Asn) c.1399C>A (p.His467Asn) | |
| 6 | g.29672653A>C | CA449458223 | ZFP57 | c.1458T>G (p.Ser486=) c.1242T>G (p.Ser414=) c.1206T>G (p.Ser402=) c.1398T>G (p.Ser466=) | |
| 6 | g.29672653A>G | CA449458224 | ZFP57 | c.1458T>C (p.Ser486=) c.1242T>C (p.Ser414=) c.1206T>C (p.Ser402=) c.1398T>C (p.Ser466=) | |
| 6 | g.29672653A>T | CA449458225 | ZFP57 | c.1458T>A (p.Ser486=) c.1242T>A (p.Ser414=) c.1206T>A (p.Ser402=) c.1398T>A (p.Ser466=) | |
| 6 | g.29672654G>A | CA363043135 | ZFP57 | c.1457C>T (p.Ser486Phe) c.1241C>T (p.Ser414Phe) c.1205C>T (p.Ser402Phe) c.1397C>T (p.Ser466Phe) | dbSNP gnomAD v4 |
| 6 | g.29672654G>C | CA363043137 | ZFP57 | c.1457C>G (p.Ser486Cys) c.1241C>G (p.Ser414Cys) c.1205C>G (p.Ser402Cys) c.1397C>G (p.Ser466Cys) | |
| 6 | g.29672654G= | CA1618398833 | ZFP57 | c.1457C= (p.Ser486=) c.1241C= (p.Ser414=) c.1205C= (p.Ser402=) c.1397C= (p.Ser466=) | |
| 6 | g.29672654G>T | CA363043139 | ZFP57 | c.1457C>A (p.Ser486Tyr) c.1241C>A (p.Ser414Tyr) c.1205C>A (p.Ser402Tyr) c.1397C>A (p.Ser466Tyr) | |
| 6 | g.29672655A>C | CA363043140 | ZFP57 | c.1456T>G (p.Ser486Ala) c.1240T>G (p.Ser414Ala) c.1204T>G (p.Ser402Ala) c.1396T>G (p.Ser466Ala) | |
| 6 | g.29672655A>G | CA363043141 | ZFP57 | c.1456T>C (p.Ser486Pro) c.1240T>C (p.Ser414Pro) c.1204T>C (p.Ser402Pro) c.1396T>C (p.Ser466Pro) | |
| 6 | g.29672655A>T | CA363043143 | ZFP57 | c.1456T>A (p.Ser486Thr) c.1240T>A (p.Ser414Thr) c.1204T>A (p.Ser402Thr) c.1396T>A (p.Ser466Thr) | |
| 6 | g.29672656G>A | CA449458229 | ZFP57 | c.1455C>T (p.Phe485=) c.1239C>T (p.Phe413=) c.1203C>T (p.Phe401=) c.1395C>T (p.Phe465=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.29672656G>C | CA363043145 | ZFP57 | c.1455C>G (p.Phe485Leu) c.1239C>G (p.Phe413Leu) c.1203C>G (p.Phe401Leu) c.1395C>G (p.Phe465Leu) | |
| 6 | g.29672656G= | CA1618398834 | ZFP57 | c.1455C= (p.Phe485=) c.1239C= (p.Phe413=) c.1203C= (p.Phe401=) c.1395C= (p.Phe465=) | |
| 6 | g.29672656G>T | CA363043147 | ZFP57 | c.1455C>A (p.Phe485Leu) c.1239C>A (p.Phe413Leu) c.1203C>A (p.Phe401Leu) c.1395C>A (p.Phe465Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.29672657A>C | CA363043148 | ZFP57 | c.1454T>G (p.Phe485Cys) c.1238T>G (p.Phe413Cys) c.1202T>G (p.Phe401Cys) c.1394T>G (p.Phe465Cys) | |
| 6 | g.29672657A>G | CA363043149 | ZFP57 | c.1454T>C (p.Phe485Ser) c.1238T>C (p.Phe413Ser) c.1202T>C (p.Phe401Ser) c.1394T>C (p.Phe465Ser) | |
| 6 | g.29672657A>T | CA363043150 | ZFP57 | c.1454T>A (p.Phe485Tyr) c.1238T>A (p.Phe413Tyr) c.1202T>A (p.Phe401Tyr) c.1394T>A (p.Phe465Tyr) | |
| 6 | g.29672658A>C | CA363043153 | ZFP57 | c.1453T>G (p.Phe485Val) c.1237T>G (p.Phe413Val) c.1201T>G (p.Phe401Val) c.1393T>G (p.Phe465Val) | gnomAD v4 |
| 6 | g.29672658A>G | CA363043152 | ZFP57 | c.1453T>C (p.Phe485Leu) c.1237T>C (p.Phe413Leu) c.1201T>C (p.Phe401Leu) c.1393T>C (p.Phe465Leu) | |
| 6 | g.29672658A>T | CA363043151 | ZFP57 | c.1453T>A (p.Phe485Ile) c.1237T>A (p.Phe413Ile) c.1201T>A (p.Phe401Ile) c.1393T>A (p.Phe465Ile) | |
| 6 | g.29672659G>A | CA449458241 | ZFP57 | c.1452C>T (p.Gly484=) c.1236C>T (p.Gly412=) c.1200C>T (p.Gly400=) c.1392C>T (p.Gly464=) |