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.116790202_116790229dup | CA602136299 | APOA5 | c.1001_1028dup (p.Leu344GlnfsTer12) c.1085_1112dup (p.Leu372GlnfsTer12) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116790205C>A | CA382734307 | APOA5 | c.1024G>T (p.Ala342Ser) c.1108G>T (p.Ala370Ser) | |
| 11 | g.116790205C= | CA2002739887 | APOA5 | c.1024G= (p.Ala342=) c.1108G= (p.Ala370=) | |
| 11 | g.116790205C>G | CA382734308 | APOA5 | c.1024G>C (p.Ala342Pro) c.1108G>C (p.Ala370Pro) | |
| 11 | g.116790205C>T | CA382734299 | APOA5 | c.1024G>A (p.Ala342Thr) c.1108G>A (p.Ala370Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116790206_116790207insCACAATCCCTGAATCCC | CA6288946 | APOA5 | c.1024_1025insGATTCAGGGATTGTGGG (p.Ala342GlyfsTer?) c.1108_1109insGATTCAGGGATTGTGGG (p.Ala370GlyfsTer?) | dbSNP ExAC |
| 11 | g.116790206C>A | CA382734314 | APOA5 | c.1023G>T (p.Gln341His) c.1107G>T (p.Gln369His) | |
| 11 | g.116790206C= | CA2002739890 | APOA5 | c.1023G= (p.Gln341=) c.1107G= (p.Gln369=) | |
| 11 | g.116790206C>G | CA229337129 | APOA5 | c.1023G>C (p.Gln341His) c.1107G>C (p.Gln369His) | dbSNP |
| 11 | g.116790206C>T | CA477047083 | APOA5 | c.1023G>A (p.Gln341=) c.1107G>A (p.Gln369=) | |
| 11 | g.116790207T>A | CA382734317 | APOA5 | c.1022A>T (p.Gln341Leu) c.1106A>T (p.Gln369Leu) | |
| 11 | g.116790207T>C | CA382734319 | APOA5 | c.1022A>G (p.Gln341Arg) c.1106A>G (p.Gln369Arg) | |
| 11 | g.116790207T>G | CA382734323 | APOA5 | c.1022A>C (p.Gln341Pro) c.1106A>C (p.Gln369Pro) | |
| 11 | g.116790208G>A | CA382734326 | APOA5 | c.1021C>T (p.Gln341Ter) c.1105C>T (p.Gln369Ter) | |
| 11 | g.116790208G>C | CA382734327 | APOA5 | c.1021C>G (p.Gln341Glu) c.1105C>G (p.Gln369Glu) | |
| 11 | g.116790208G>T | CA382734330 | APOA5 | c.1021C>A (p.Gln341Lys) c.1105C>A (p.Gln369Lys) | |
| 11 | g.116790209C>A | CA477047085 | APOA5 | c.1020G>T (p.Leu340=) c.1104G>T (p.Leu368=) | gnomAD v4 |
| 11 | g.116790209C>G | CA477047086 | APOA5 | c.1020G>C (p.Leu340=) c.1104G>C (p.Leu368=) | |
| 11 | g.116790209C>T | CA477047087 | APOA5 | c.1020G>A (p.Leu340=) c.1104G>A (p.Leu368=) | |
| 11 | g.116790210A>C | CA382734336 | APOA5 | c.1019T>G (p.Leu340Arg) c.1103T>G (p.Leu368Arg) | |
| 11 | g.116790210A>G | CA382734338 | APOA5 | c.1019T>C (p.Leu340Pro) c.1103T>C (p.Leu368Pro) | gnomAD v4 |
| 11 | g.116790210A>T | CA382734340 | APOA5 | c.1019T>A (p.Leu340Gln) c.1103T>A (p.Leu368Gln) | |
| 11 | g.116790211G>A | CA477047091 | APOA5 | c.1018C>T (p.Leu340=) c.1102C>T (p.Leu368=) | |
| 11 | g.116790211G>C | CA382734342 | APOA5 | c.1018C>G (p.Leu340Val) c.1102C>G (p.Leu368Val) | |
| 11 | g.116790211G>T | CA382734344 | APOA5 | c.1018C>A (p.Leu340Met) c.1102C>A (p.Leu368Met) | |
| 11 | g.116790212C>A | CA382734350 | APOA5 | c.1017G>T (p.Lys339Asn) c.1101G>T (p.Lys367Asn) | |
| 11 | g.116790212C= | CA2002739895 | APOA5 | c.1017G= (p.Lys339=) c.1101G= (p.Lys367=) | |
| 11 | g.116790212C>G | CA382734352 | APOA5 | c.1017G>C (p.Lys339Asn) c.1101G>C (p.Lys367Asn) | |
| 11 | g.116790212C>T | CA477047092 | APOA5 | c.1017G>A (p.Lys339=) c.1101G>A (p.Lys367=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116790213T>A | CA382734355 | APOA5 | c.1016A>T (p.Lys339Met) c.1100A>T (p.Lys367Met) | |
| 11 | g.116790213T>C | CA382734356 | APOA5 | c.1016A>G (p.Lys339Arg) c.1100A>G (p.Lys367Arg) | |
| 11 | g.116790213T>G | CA382734359 | APOA5 | c.1016A>C (p.Lys339Thr) c.1100A>C (p.Lys367Thr) | gnomAD v4 |
| 11 | g.116790214T>A | CA382734360 | APOA5 | c.1015A>T (p.Lys339Ter) c.1099A>T (p.Lys367Ter) | |
| 11 | g.116790214T>C | CA382734361 | APOA5 | c.1015A>G (p.Lys339Glu) c.1099A>G (p.Lys367Glu) | |
| 11 | g.116790214T>G | CA382734362 | APOA5 | c.1015A>C (p.Lys339Gln) c.1099A>C (p.Lys367Gln) | |
| 11 | g.116790215G>A | CA477047094 | APOA5 | c.1014C>T (p.Ser338=) c.1098C>T (p.Ser366=) | |
| 11 | g.116790215G>C | CA382734364 | APOA5 | c.1014C>G (p.Ser338Arg) c.1098C>G (p.Ser366Arg) | |
| 11 | g.116790215G>T | CA382734366 | APOA5 | c.1014C>A (p.Ser338Arg) c.1098C>A (p.Ser366Arg) | gnomAD v4 |
| 11 | g.116790216C>A | CA382734370 | APOA5 | c.1013G>T (p.Ser338Ile) c.1097G>T (p.Ser366Ile) | |
| 11 | g.116790216C>G | CA382734371 | APOA5 | c.1013G>C (p.Ser338Thr) c.1097G>C (p.Ser366Thr) | |
| 11 | g.116790216C>T | CA382734372 | APOA5 | c.1013G>A (p.Ser338Asn) c.1097G>A (p.Ser366Asn) | gnomAD v4 |
| 11 | g.116790217T>A | CA382734374 | APOA5 | c.1012A>T (p.Ser338Cys) c.1096A>T (p.Ser366Cys) | |
| 11 | g.116790217T>C | CA229337135 | APOA5 | c.1012A>G (p.Ser338Gly) c.1096A>G (p.Ser366Gly) | dbSNP |
| 11 | g.116790217T>G | CA382734373 | APOA5 | c.1012A>C (p.Ser338Arg) c.1096A>C (p.Ser366Arg) | |
| 11 | g.116790217T= | CA2002739897 | APOA5 | c.1012A= (p.Ser338=) c.1096A= (p.Ser366=) | |
| 11 | g.116790218C>A | CA477047099 | APOA5 | c.1011G>T (p.Leu337=) c.1095G>T (p.Leu365=) | |
| 11 | g.116790218C>G | CA477047101 | APOA5 | c.1011G>C (p.Leu337=) c.1095G>C (p.Leu365=) | |
| 11 | g.116790218C>T | CA477047103 | APOA5 | c.1011G>A (p.Leu337=) c.1095G>A (p.Leu365=) | |
| 11 | g.116790219A>C | CA382734378 | APOA5 | c.1010T>G (p.Leu337Arg) c.1094T>G (p.Leu365Arg) | |
| 11 | g.116790219A>G | CA382734381 | APOA5 | c.1010T>C (p.Leu337Pro) c.1094T>C (p.Leu365Pro) |