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 |
|---|---|---|---|---|---|
| 20 | g.46725233G>A | CA409266536 | SLC2A10 | c.197G>A (p.Gly66Asp) n.349G>A c.260G>A (p.Gly87Asp) c.206G>A (p.Gly69Asp) n.396G>A n.383G>A | ClinVar dbSNP COSMIC |
| 20 | g.46725233G>C | CA409266537 | SLC2A10 | c.197G>C (p.Gly66Ala) n.349G>C c.260G>C (p.Gly87Ala) c.206G>C (p.Gly69Ala) n.396G>C n.383G>C | |
| 20 | g.46725233G= | CA2366796098 | SLC2A10 | c.197G= (p.Gly66=) n.349G= c.260G= (p.Gly87=) c.206G= (p.Gly69=) n.396G= n.383G= | |
| 20 | g.46725233G>T | CA409266538 | SLC2A10 | c.197G>T (p.Gly66Val) n.349G>T c.260G>T (p.Gly87Val) c.206G>T (p.Gly69Val) n.396G>T n.383G>T | |
| 20 | g.46725234C>A | CA510847460 | SLC2A10 | c.198C>A (p.Gly66=) n.350C>A c.261C>A (p.Gly87=) c.207C>A (p.Gly69=) n.397C>A n.384C>A | |
| 20 | g.46725234C>G | CA510847461 | SLC2A10 | c.198C>G (p.Gly66=) n.350C>G c.261C>G (p.Gly87=) c.207C>G (p.Gly69=) n.397C>G n.384C>G | |
| 20 | g.46725234C>T | CA510847462 | SLC2A10 | c.198C>T (p.Gly66=) n.350C>T c.261C>T (p.Gly87=) c.207C>T (p.Gly69=) n.397C>T n.384C>T | gnomAD v4 COSMIC |
| 20 | g.46725235T>A | CA409266539 | SLC2A10 | c.199T>A (p.Phe67Ile) n.351T>A c.262T>A (p.Phe88Ile) c.208T>A (p.Phe70Ile) n.398T>A n.385T>A | |
| 20 | g.46725235T>C | CA409266540 | SLC2A10 | c.199T>C (p.Phe67Leu) n.351T>C c.262T>C (p.Phe88Leu) c.208T>C (p.Phe70Leu) n.398T>C n.385T>C | |
| 20 | g.46725235T>G | CA409266541 | SLC2A10 | c.199T>G (p.Phe67Val) n.351T>G c.262T>G (p.Phe88Val) c.208T>G (p.Phe70Val) n.398T>G n.385T>G | |
| 20 | g.46725236T>A | CA409266542 | SLC2A10 | c.200T>A (p.Phe67Tyr) n.352T>A c.263T>A (p.Phe88Tyr) c.209T>A (p.Phe70Tyr) n.399T>A n.386T>A | |
| 20 | g.46725236T>C | CA409266543 | SLC2A10 | c.200T>C (p.Phe67Ser) n.352T>C c.263T>C (p.Phe88Ser) c.209T>C (p.Phe70Ser) n.399T>C n.386T>C | gnomAD v4 |
| 20 | g.46725236T>G | CA409266544 | SLC2A10 | c.200T>G (p.Phe67Cys) n.352T>G c.263T>G (p.Phe88Cys) c.209T>G (p.Phe70Cys) n.399T>G n.386T>G | |
| 20 | g.46725237C>A | CA409266545 | SLC2A10 | c.201C>A (p.Phe67Leu) n.353C>A c.264C>A (p.Phe88Leu) c.210C>A (p.Phe70Leu) n.400C>A n.387C>A | |
| 20 | g.46725237C>G | CA409266546 | SLC2A10 | c.201C>G (p.Phe67Leu) n.353C>G c.264C>G (p.Phe88Leu) c.210C>G (p.Phe70Leu) n.400C>G n.387C>G | |
| 20 | g.46725237C>T | CA510847463 | SLC2A10 | c.201C>T (p.Phe67=) n.353C>T c.264C>T (p.Phe88=) c.210C>T (p.Phe70=) n.400C>T n.387C>T | |
| 20 | g.46725238C>A | CA409266549 | SLC2A10 | c.202C>A (p.Leu68Ile) n.354C>A c.265C>A (p.Leu89Ile) c.211C>A (p.Leu71Ile) n.401C>A n.388C>A | |
| 20 | g.46725238C>G | CA409266548 | SLC2A10 | c.202C>G (p.Leu68Val) n.354C>G c.265C>G (p.Leu89Val) c.211C>G (p.Leu71Val) n.401C>G n.388C>G | gnomAD v4 |
| 20 | g.46725238C>T | CA409266547 | SLC2A10 | c.202C>T (p.Leu68Phe) n.354C>T c.265C>T (p.Leu89Phe) c.211C>T (p.Leu71Phe) n.401C>T n.388C>T | gnomAD v4 COSMIC |
| 20 | g.46725239T>A | CA409266552 | SLC2A10 | c.203T>A (p.Leu68His) n.355T>A c.266T>A (p.Leu89His) c.212T>A (p.Leu71His) n.402T>A n.389T>A | |
| 20 | g.46725239T>C | CA409266550 | SLC2A10 | c.203T>C (p.Leu68Pro) n.355T>C c.266T>C (p.Leu89Pro) c.212T>C (p.Leu71Pro) n.402T>C n.389T>C | |
| 20 | g.46725239T>G | CA409266551 | SLC2A10 | c.203T>G (p.Leu68Arg) n.355T>G c.266T>G (p.Leu89Arg) c.212T>G (p.Leu71Arg) n.402T>G n.389T>G | |
| 20 | g.46725240C>A | CA510847464 | SLC2A10 | c.204C>A (p.Leu68=) n.356C>A c.267C>A (p.Leu89=) c.213C>A (p.Leu71=) n.403C>A n.390C>A | COSMIC |
| 20 | g.46725240C= | CA2366796099 | SLC2A10 | c.204C= (p.Leu68=) n.356C= c.267C= (p.Leu89=) c.213C= (p.Leu71=) n.403C= n.390C= | |
| 20 | g.46725240C>G | CA510847465 | SLC2A10 | c.204C>G (p.Leu68=) n.356C>G c.267C>G (p.Leu89=) c.213C>G (p.Leu71=) n.403C>G n.390C>G | |
| 20 | g.46725240C>T | CA510847466 | SLC2A10 | c.204C>T (p.Leu68=) n.356C>T c.267C>T (p.Leu89=) c.213C>T (p.Leu71=) n.403C>T n.390C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.46725241A>C | CA409266553 | SLC2A10 | c.205A>C (p.Ile69Leu) n.357A>C c.268A>C (p.Ile90Leu) c.214A>C (p.Ile72Leu) n.404A>C n.391A>C | |
| 20 | g.46725241A>G | CA409266554 | SLC2A10 | c.205A>G (p.Ile69Val) n.357A>G c.268A>G (p.Ile90Val) c.214A>G (p.Ile72Val) n.404A>G n.391A>G | |
| 20 | g.46725241A>T | CA409266555 | SLC2A10 | c.205A>T (p.Ile69Phe) n.357A>T c.268A>T (p.Ile90Phe) c.214A>T (p.Ile72Phe) n.404A>T n.391A>T | |
| 20 | g.46725242T>A | CA409266556 | SLC2A10 | c.206T>A (p.Ile69Asn) n.358T>A c.269T>A (p.Ile90Asn) c.215T>A (p.Ile72Asn) n.405T>A n.392T>A | |
| 20 | g.46725242T>C | CA409266557 | SLC2A10 | c.206T>C (p.Ile69Thr) n.358T>C c.269T>C (p.Ile90Thr) c.215T>C (p.Ile72Thr) n.405T>C n.392T>C | ClinVar dbSNP |
| 20 | g.46725242T>G | CA409266558 | SLC2A10 | c.206T>G (p.Ile69Ser) n.358T>G c.269T>G (p.Ile90Ser) c.215T>G (p.Ile72Ser) n.405T>G n.392T>G | |
| 20 | g.46725242T= | CA2366796100 | SLC2A10 | c.206T= (p.Ile69=) n.358T= c.269T= (p.Ile90=) c.215T= (p.Ile72=) n.405T= n.392T= | |
| 20 | g.46725243T>A | CA510847467 | SLC2A10 | c.207T>A (p.Ile69=) n.359T>A c.270T>A (p.Ile90=) c.216T>A (p.Ile72=) n.406T>A n.393T>A | |
| 20 | g.46725243T>C | CA315755280 | SLC2A10 | c.207T>C (p.Ile69=) n.359T>C c.270T>C (p.Ile90=) c.216T>C (p.Ile72=) n.406T>C n.393T>C | dbSNP |
| 20 | g.46725243T>G | CA409266559 | SLC2A10 | c.207T>G (p.Ile69Met) n.359T>G c.270T>G (p.Ile90Met) c.216T>G (p.Ile72Met) n.406T>G n.393T>G | |
| 20 | g.46725243T= | CA2366796101 | SLC2A10 | c.207T= (p.Ile69=) n.359T= c.270T= (p.Ile90=) c.216T= (p.Ile72=) n.406T= n.393T= | |
| 20 | g.46725244G>A | CA409266560 | SLC2A10 | c.208G>A (p.Asp70Asn) n.360G>A c.271G>A (p.Asp91Asn) c.217G>A (p.Asp73Asn) n.407G>A n.394G>A | |
| 20 | g.46725244G>C | CA409266561 | SLC2A10 | c.208G>C (p.Asp70His) n.360G>C c.271G>C (p.Asp91His) c.217G>C (p.Asp73His) n.407G>C n.394G>C | |
| 20 | g.46725244G= | CA2366796102 | SLC2A10 | c.208G= (p.Asp70=) n.360G= c.271G= (p.Asp91=) c.217G= (p.Asp73=) n.407G= n.394G= | |
| 20 | g.46725244G>T | CA409266562 | SLC2A10 | c.208G>T (p.Asp70Tyr) n.360G>T c.271G>T (p.Asp91Tyr) c.217G>T (p.Asp73Tyr) n.407G>T n.394G>T | dbSNP |
| 20 | g.46725245A= | CA2366796103 | SLC2A10 | c.209A= (p.Asp70=) n.361A= c.272A= (p.Asp91=) c.218A= (p.Asp73=) n.408A= n.395A= | |
| 20 | g.46725245A>C | CA409266564 | SLC2A10 | c.209A>C (p.Asp70Ala) n.361A>C c.272A>C (p.Asp91Ala) c.218A>C (p.Asp73Ala) n.408A>C n.395A>C | |
| 20 | g.46725245A>G | CA409266565 | SLC2A10 | c.209A>G (p.Asp70Gly) n.361A>G c.272A>G (p.Asp91Gly) c.218A>G (p.Asp73Gly) n.408A>G n.395A>G | ClinVar dbSNP gnomAD v4 |
| 20 | g.46725245A>T | CA409266563 | SLC2A10 | c.209A>T (p.Asp70Val) n.361A>T c.272A>T (p.Asp91Val) c.218A>T (p.Asp73Val) n.408A>T n.395A>T | |
| 20 | g.46725246C>A | CA409266566 | SLC2A10 | c.210C>A (p.Asp70Glu) n.362C>A c.273C>A (p.Asp91Glu) c.219C>A (p.Asp73Glu) n.409C>A n.396C>A | |
| 20 | g.46725246C>G | CA409266567 | SLC2A10 | c.210C>G (p.Asp70Glu) n.362C>G c.273C>G (p.Asp91Glu) c.219C>G (p.Asp73Glu) n.409C>G n.396C>G | |
| 20 | g.46725246C>T | CA510847468 | SLC2A10 | c.210C>T (p.Asp70=) n.362C>T c.273C>T (p.Asp91=) c.219C>T (p.Asp73=) n.409C>T n.396C>T | |
| 20 | g.46725247T>A | CA409266568 | SLC2A10 | c.211T>A (p.Cys71Ser) n.363T>A c.274T>A (p.Cys92Ser) c.220T>A (p.Cys74Ser) n.410T>A n.397T>A | |
| 20 | g.46725247T>C | CA409266569 | SLC2A10 | c.211T>C (p.Cys71Arg) n.363T>C c.274T>C (p.Cys92Arg) c.220T>C (p.Cys74Arg) n.410T>C n.397T>C |