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.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 | |
| 17 | g.8075706C>A | CA397990065 | ALOX12B | c.1543G>T (p.Glu515Ter) c.607G>T (p.Glu203Ter) n.479+469G>T | |
| 17 | g.8075706C>G | CA397990067 | ALOX12B | c.1543G>C (p.Glu515Gln) c.607G>C (p.Glu203Gln) n.479+469G>C | |
| 17 | g.8075706C>T | CA397990069 | ALOX12B | c.1543G>A (p.Glu515Lys) c.607G>A (p.Glu203Lys) n.479+469G>A | |
| 17 | g.8075707C>A | CA497758200 | ALOX12B | c.1542G>T (p.Thr514=) c.606G>T (p.Thr202=) n.479+468G>T | |
| 17 | g.8075707C= | CA2246125786 | ALOX12B | c.1542G= (p.Thr514=) c.606G= (p.Thr202=) n.479+468G= | |
| 17 | g.8075707C>G | CA497758204 | ALOX12B | c.1542G>C (p.Thr514=) c.606G>C (p.Thr202=) n.479+468G>C | |
| 17 | g.8075707C>T | CA8367265 | ALOX12B | c.1542G>A (p.Thr514=) c.606G>A (p.Thr202=) n.479+468G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8075708G>A | CA8367266 | ALOX12B | c.1541C>T (p.Thr514Met) c.605C>T (p.Thr202Met) n.479+467C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8075708G>C | CA397990073 | ALOX12B | c.1541C>G (p.Thr514Arg) c.605C>G (p.Thr202Arg) n.479+467C>G | |
| 17 | g.8075708G= | CA2246125789 | ALOX12B | c.1541C= (p.Thr514=) c.605C= (p.Thr202=) n.479+467C= | |
| 17 | g.8075708G>T | CA397990074 | ALOX12B | c.1541C>A (p.Thr514Lys) c.605C>A (p.Thr202Lys) n.479+467C>A | |
| 17 | g.8075709T>A | CA397990076 | ALOX12B | c.1540A>T (p.Thr514Ser) c.604A>T (p.Thr202Ser) n.479+466A>T | |
| 17 | g.8075709T>C | CA397990078 | ALOX12B | c.1540A>G (p.Thr514Ala) c.604A>G (p.Thr202Ala) n.479+466A>G | gnomAD v4 |
| 17 | g.8075709T>G | CA397990080 | ALOX12B | c.1540A>C (p.Thr514Pro) c.604A>C (p.Thr202Pro) n.479+466A>C | |
| 17 | g.8075710C>A | CA497758213 | ALOX12B | c.1539G>T (p.Val513=) c.603G>T (p.Val201=) n.479+465G>T | |
| 17 | g.8075710C>G | CA497758214 | ALOX12B | c.1539G>C (p.Val513=) c.603G>C (p.Val201=) n.479+465G>C | |
| 17 | g.8075710C>T | CA497758217 | ALOX12B | c.1539G>A (p.Val513=) c.603G>A (p.Val201=) n.479+465G>A | |
| 17 | g.8075711A>C | CA397990084 | ALOX12B | c.1538T>G (p.Val513Gly) c.602T>G (p.Val201Gly) n.479+464T>G | gnomAD v4 |
| 17 | g.8075711A>G | CA397990087 | ALOX12B | c.1538T>C (p.Val513Ala) c.602T>C (p.Val201Ala) n.479+464T>C | |
| 17 | g.8075711A>T | CA397990082 | ALOX12B | c.1538T>A (p.Val513Glu) c.602T>A (p.Val201Glu) n.479+464T>A | |
| 17 | g.8075712C>A | CA397990088 | ALOX12B | c.1537G>T (p.Val513Leu) c.601G>T (p.Val201Leu) n.479+463G>T | |
| 17 | g.8075712C>G | CA397990089 | ALOX12B | c.1537G>C (p.Val513Leu) c.601G>C (p.Val201Leu) n.479+463G>C |