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 |
|---|---|---|---|---|---|
| 17 | g.8075692A= | CA2246125745 | ALOX12B | c.1557T= (p.Tyr519=) c.621T= (p.Tyr207=) n.479+483T= | |
| 17 | g.8075692A>C | CA397989999 | ALOX12B | c.1557T>G (p.Tyr519Ter) c.621T>G (p.Tyr207Ter) n.479+483T>G | |
| 17 | g.8075692A>G | CA497758136 | ALOX12B | c.1557T>C (p.Tyr519=) c.621T>C (p.Tyr207=) n.479+483T>C | dbSNP |
| 17 | g.8075692A>T | CA397990001 | ALOX12B | c.1557T>A (p.Tyr519Ter) c.621T>A (p.Tyr207Ter) n.479+483T>A | |
| 17 | g.8075693T>A | CA397990004 | ALOX12B | c.1556A>T (p.Tyr519Phe) c.620A>T (p.Tyr207Phe) n.479+482A>T | |
| 17 | g.8075693T>C | CA8367261 | ALOX12B | c.1556A>G (p.Tyr519Cys) c.620A>G (p.Tyr207Cys) n.479+482A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.8075693T>G | CA397990005 | ALOX12B | c.1556A>C (p.Tyr519Ser) c.620A>C (p.Tyr207Ser) n.479+482A>C | |
| 17 | g.8075693T= | CA2246125747 | ALOX12B | c.1556A= (p.Tyr519=) c.620A= (p.Tyr207=) n.479+482A= | |
| 17 | g.8075694A>C | CA397990009 | ALOX12B | c.1555T>G (p.Tyr519Asp) c.619T>G (p.Tyr207Asp) n.479+481T>G | |
| 17 | g.8075694A>G | CA397990010 | ALOX12B | c.1555T>C (p.Tyr519His) c.619T>C (p.Tyr207His) n.479+481T>C | |
| 17 | g.8075694A>T | CA397990012 | ALOX12B | c.1555T>A (p.Tyr519Asn) c.619T>A (p.Tyr207Asn) n.479+481T>A | |
| 17 | g.8075695G>A | CA8367262 | ALOX12B | c.1554C>T (p.Thr518=) c.618C>T (p.Thr206=) n.479+480C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 17 | g.8075695G>C | CA497758145 | ALOX12B | c.1554C>G (p.Thr518=) c.618C>G (p.Thr206=) n.479+480C>G | |
| 17 | g.8075695G= | CA2246125753 | ALOX12B | c.1554C= (p.Thr518=) c.618C= (p.Thr206=) n.479+480C= | |
| 17 | g.8075695G>T | CA497758147 | ALOX12B | c.1554C>A (p.Thr518=) c.618C>A (p.Thr206=) n.479+480C>A | |
| 17 | g.8075696G>A | CA8367263 | ALOX12B | c.1553C>T (p.Thr518Ile) c.617C>T (p.Thr206Ile) n.479+479C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8075696G>C | CA397990017 | ALOX12B | c.1553C>G (p.Thr518Ser) c.617C>G (p.Thr206Ser) n.479+479C>G | |
| 17 | g.8075696G= | CA2246125757 | ALOX12B | c.1553C= (p.Thr518=) c.617C= (p.Thr206=) n.479+479C= | |
| 17 | g.8075696G>T | CA397990021 | ALOX12B | c.1553C>A (p.Thr518Asn) c.617C>A (p.Thr206Asn) n.479+479C>A | |
| 17 | g.8075697T>A | CA397990025 | ALOX12B | c.1552A>T (p.Thr518Ser) c.616A>T (p.Thr206Ser) n.479+478A>T | |
| 17 | g.8075697T>C | CA397990027 | ALOX12B | c.1552A>G (p.Thr518Ala) c.616A>G (p.Thr206Ala) n.479+478A>G | |
| 17 | g.8075697T>G | CA397990029 | ALOX12B | c.1552A>C (p.Thr518Pro) c.616A>C (p.Thr206Pro) n.479+478A>C | |
| 17 | g.8075698G>A | CA497758156 | ALOX12B | c.1551C>T (p.Ile517=) c.615C>T (p.Ile205=) n.479+477C>T | dbSNP |
| 17 | g.8075698G>C | CA397990030 | ALOX12B | c.1551C>G (p.Ile517Met) c.615C>G (p.Ile205Met) n.479+477C>G | |
| 17 | g.8075698G= | CA2246125759 | ALOX12B | c.1551C= (p.Ile517=) c.615C= (p.Ile205=) n.479+477C= | |
| 17 | g.8075698G>T | CA497758158 | ALOX12B | c.1551C>A (p.Ile517=) c.615C>A (p.Ile205=) n.479+477C>A | |
| 17 | g.8075699A>C | CA397990034 | ALOX12B | c.1550T>G (p.Ile517Ser) c.614T>G (p.Ile205Ser) n.479+476T>G | |
| 17 | g.8075699A>G | CA397990032 | ALOX12B | c.1550T>C (p.Ile517Thr) c.614T>C (p.Ile205Thr) n.479+476T>C | |
| 17 | g.8075699A>T | CA397990035 | ALOX12B | c.1550T>A (p.Ile517Asn) c.614T>A (p.Ile205Asn) n.479+476T>A | |
| 17 | g.8075700T>A | CA397990038 | ALOX12B | c.1549A>T (p.Ile517Phe) c.613A>T (p.Ile205Phe) n.479+475A>T | dbSNP gnomAD v4 |
| 17 | g.8075700T>C | CA397990040 | ALOX12B | c.1549A>G (p.Ile517Val) c.613A>G (p.Ile205Val) n.479+475A>G | gnomAD v4 |
| 17 | g.8075700T>G | CA397990041 | ALOX12B | c.1549A>C (p.Ile517Leu) c.613A>C (p.Ile205Leu) n.479+475A>C | gnomAD v4 |
| 17 | g.8075700T= | CA2246125767 | ALOX12B | c.1549A= (p.Ile517=) c.613A= (p.Ile205=) n.479+475A= | |
| 17 | g.8075701G>A | CA497758169 | ALOX12B | c.1548C>T (p.Ile516=) c.612C>T (p.Ile204=) n.479+474C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 17 | g.8075701G>C | CA397990044 | ALOX12B | c.1548C>G (p.Ile516Met) c.612C>G (p.Ile204Met) n.479+474C>G | |
| 17 | g.8075701G= | CA2246125772 | ALOX12B | c.1548C= (p.Ile516=) c.612C= (p.Ile204=) n.479+474C= | |
| 17 | g.8075701G>T | CA8367264 | ALOX12B | c.1548C>A (p.Ile516=) c.612C>A (p.Ile204=) n.479+474C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.8075702A= | CA2246125777 | ALOX12B | c.1547T= (p.Ile516=) c.611T= (p.Ile204=) n.479+473T= | |
| 17 | g.8075702A>C | CA397990046 | ALOX12B | c.1547T>G (p.Ile516Ser) c.611T>G (p.Ile204Ser) n.479+473T>G | |
| 17 | g.8075702A>G | CA287543389 | ALOX12B | c.1547T>C (p.Ile516Thr) c.611T>C (p.Ile204Thr) n.479+473T>C | dbSNP |
| 17 | g.8075702A>T | CA397990049 | ALOX12B | c.1547T>A (p.Ile516Asn) c.611T>A (p.Ile204Asn) n.479+473T>A | |
| 17 | g.8075703T>A | CA397990051 | ALOX12B | c.1546A>T (p.Ile516Phe) c.610A>T (p.Ile204Phe) n.479+472A>T | |
| 17 | g.8075703T>C | CA397990052 | ALOX12B | c.1546A>G (p.Ile516Val) c.610A>G (p.Ile204Val) n.479+472A>G | |
| 17 | g.8075703T>G | CA397990054 | ALOX12B | c.1546A>C (p.Ile516Leu) c.610A>C (p.Ile204Leu) n.479+472A>C | |
| 17 | g.8075704C>A | CA397990056 | ALOX12B | c.1545G>T (p.Glu515Asp) c.609G>T (p.Glu203Asp) n.479+471G>T | |
| 17 | g.8075704C>G | CA397990058 | ALOX12B | c.1545G>C (p.Glu515Asp) c.609G>C (p.Glu203Asp) n.479+471G>C | |
| 17 | g.8075704C>T | CA497758181 | ALOX12B | c.1545G>A (p.Glu515=) c.609G>A (p.Glu203=) n.479+471G>A | |
| 17 | g.8075705T>A | CA397990060 | ALOX12B | c.1544A>T (p.Glu515Val) c.608A>T (p.Glu203Val) n.479+470A>T | |
| 17 | g.8075705T>C | CA397990063 | ALOX12B | c.1544A>G (p.Glu515Gly) c.608A>G (p.Glu203Gly) n.479+470A>G | |
| 17 | g.8075705T>G | CA397990061 | ALOX12B | c.1544A>C (p.Glu515Ala) c.608A>C (p.Glu203Ala) n.479+470A>C |