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.116790294T>A | CA382734914 | APOA5 | c.935A>T (p.Gln312Leu) c.1019A>T (p.Gln340Leu) | |
| 11 | g.116790294T>C | CA382734912 | APOA5 | c.935A>G (p.Gln312Arg) c.1019A>G (p.Gln340Arg) | |
| 11 | g.116790294T>G | CA382734910 | APOA5 | c.935A>C (p.Gln312Pro) c.1019A>C (p.Gln340Pro) | |
| 11 | g.116790295G>A | CA382734918 | APOA5 | c.934C>T (p.Gln312Ter) c.1018C>T (p.Gln340Ter) | |
| 11 | g.116790295G>C | CA382734920 | APOA5 | c.934C>G (p.Gln312Glu) c.1018C>G (p.Gln340Glu) | |
| 11 | g.116790295G>T | CA382734922 | APOA5 | c.934C>A (p.Gln312Lys) c.1018C>A (p.Gln340Lys) | |
| 11 | g.116790296C>A | CA382734925 | APOA5 | c.933G>T (p.Gln311His) c.1017G>T (p.Gln339His) | |
| 11 | g.116790296C>G | CA382734928 | APOA5 | c.933G>C (p.Gln311His) c.1017G>C (p.Gln339His) | |
| 11 | g.116790296C>T | CA477047387 | APOA5 | c.933G>A (p.Gln311=) c.1017G>A (p.Gln339=) | |
| 11 | g.116790297T>A | CA382734930 | APOA5 | c.932A>T (p.Gln311Leu) c.1016A>T (p.Gln339Leu) | |
| 11 | g.116790297T>C | CA382734932 | APOA5 | c.932A>G (p.Gln311Arg) c.1016A>G (p.Gln339Arg) | ClinVar |
| 11 | g.116790297T>G | CA382734935 | APOA5 | c.932A>C (p.Gln311Pro) c.1016A>C (p.Gln339Pro) | |
| 11 | g.116790298G>A | CA382734945 | APOA5 | c.931C>T (p.Gln311Ter) c.1015C>T (p.Gln339Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116790298G>C | CA382734947 | APOA5 | c.931C>G (p.Gln311Glu) c.1015C>G (p.Gln339Glu) | |
| 11 | g.116790298G= | CA2002740012 | APOA5 | c.931C= (p.Gln311=) c.1015C= (p.Gln339=) | |
| 11 | g.116790298G>T | CA382734949 | APOA5 | c.931C>A (p.Gln311Lys) c.1015C>A (p.Gln339Lys) | |
| 11 | g.116790299G>A | CA477047393 | APOA5 | c.930C>T (p.Val310=) c.1014C>T (p.Val338=) | |
| 11 | g.116790299G>C | CA477047394 | APOA5 | c.930C>G (p.Val310=) c.1014C>G (p.Val338=) | dbSNP gnomAD v4 |
| 11 | g.116790299G= | CA2002740016 | APOA5 | c.930C= (p.Val310=) c.1014C= (p.Val338=) | |
| 11 | g.116790299G>T | CA477047395 | APOA5 | c.930C>A (p.Val310=) c.1014C>A (p.Val338=) | |
| 11 | g.116790300A>C | CA382734962 | APOA5 | c.929T>G (p.Val310Gly) c.1013T>G (p.Val338Gly) | |
| 11 | g.116790300A>G | CA382734959 | APOA5 | c.929T>C (p.Val310Ala) c.1013T>C (p.Val338Ala) | |
| 11 | g.116790300A>T | CA382734951 | APOA5 | c.929T>A (p.Val310Asp) c.1013T>A (p.Val338Asp) | |
| 11 | g.116790301C>A | CA382734965 | APOA5 | c.928G>T (p.Val310Phe) c.1012G>T (p.Val338Phe) | |
| 11 | g.116790301C= | CA2002740021 | APOA5 | c.928G= (p.Val310=) c.1012G= (p.Val338=) | |
| 11 | g.116790301C>G | CA382734968 | APOA5 | c.928G>C (p.Val310Leu) c.1012G>C (p.Val338Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116790301C>T | CA382734970 | APOA5 | c.928G>A (p.Val310Ile) c.1012G>A (p.Val338Ile) | |
| 11 | g.116790305_116790307del | CA2695215427 | APOA5 | c.926_928del (p.Glu309del) c.1010_1012del (p.Glu337del) | |
| 11 | g.116790302C>A | CA382734977 | APOA5 | c.927G>T (p.Glu309Asp) c.1011G>T (p.Glu337Asp) | |
| 11 | g.116790302C>G | CA382734979 | APOA5 | c.927G>C (p.Glu309Asp) c.1011G>C (p.Glu337Asp) | |
| 11 | g.116790302C>T | CA477047405 | APOA5 | c.927G>A (p.Glu309=) c.1011G>A (p.Glu337=) | |
| 11 | g.116790303T>A | CA382734983 | APOA5 | c.926A>T (p.Glu309Val) c.1010A>T (p.Glu337Val) | |
| 11 | g.116790303T>C | CA382734986 | APOA5 | c.926A>G (p.Glu309Gly) c.1010A>G (p.Glu337Gly) | |
| 11 | g.116790303T>G | CA382734990 | APOA5 | c.926A>C (p.Glu309Ala) c.1010A>C (p.Glu337Ala) | |
| 11 | g.116790304C>A | CA382734995 | APOA5 | c.925G>T (p.Glu309Ter) c.1009G>T (p.Glu337Ter) | |
| 11 | g.116790304C>G | CA382734998 | APOA5 | c.925G>C (p.Glu309Gln) c.1009G>C (p.Glu337Gln) | |
| 11 | g.116790304C>T | CA382735000 | APOA5 | c.925G>A (p.Glu309Lys) c.1009G>A (p.Glu337Lys) | |
| 11 | g.116790305C>A | CA382735002 | APOA5 | c.924G>T (p.Glu308Asp) c.1008G>T (p.Glu336Asp) | |
| 11 | g.116790305C>G | CA382735004 | APOA5 | c.924G>C (p.Glu308Asp) c.1008G>C (p.Glu336Asp) | |
| 11 | g.116790305C>T | CA477047407 | APOA5 | c.924G>A (p.Glu308=) c.1008G>A (p.Glu336=) | |
| 11 | g.116790306T>A | CA382735006 | APOA5 | c.923A>T (p.Glu308Val) c.1007A>T (p.Glu336Val) | |
| 11 | g.116790306T>C | CA382735010 | APOA5 | c.923A>G (p.Glu308Gly) c.1007A>G (p.Glu336Gly) | |
| 11 | g.116790306T>G | CA382735008 | APOA5 | c.923A>C (p.Glu308Ala) c.1007A>C (p.Glu336Ala) | |
| 11 | g.116790307C>A | CA382735013 | APOA5 | c.922G>T (p.Glu308Ter) c.1006G>T (p.Glu336Ter) | |
| 11 | g.116790307C>G | CA382735016 | APOA5 | c.922G>C (p.Glu308Gln) c.1006G>C (p.Glu336Gln) | gnomAD v4 |
| 11 | g.116790307C>T | CA382735018 | APOA5 | c.922G>A (p.Glu308Lys) c.1006G>A (p.Glu336Lys) | gnomAD v4 |
| 11 | g.116790308A= | CA2002740023 | APOA5 | c.921T= (p.Thr307=) c.1005T= (p.Thr335=) | |
| 11 | g.116790308A>C | CA477047412 | APOA5 | c.921T>G (p.Thr307=) c.1005T>G (p.Thr335=) | |
| 11 | g.116790308A>G | CA477047414 | APOA5 | c.921T>C (p.Thr307=) c.1005T>C (p.Thr335=) | dbSNP |
| 11 | g.116790308A>T | CA477047416 | APOA5 | c.921T>A (p.Thr307=) c.1005T>A (p.Thr335=) | gnomAD v4 |