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 |
|---|---|---|---|---|---|
| 5 | g.79314351A= | CA1557849852 | JMY | c.2159A= (p.His720=) n.77-10514A= c.2065-29A= (n.2065-29A=) c.2063A= (p.His688=) | |
| 5 | g.79314351A>C | CA360205107 | JMY | c.2159A>C (p.His720Pro) n.77-10514A>C c.2065-29A>C (n.2065-29A>C) c.2063A>C (p.His688Pro) | |
| 5 | g.79314351A>G | CA3320245 | JMY | c.2159A>G (p.His720Arg) n.77-10514A>G c.2065-29A>G (n.2065-29A>G) c.2063A>G (p.His688Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.79314351A>T | CA360205111 | JMY | c.2159A>T (p.His720Leu) n.77-10514A>T c.2065-29A>T (n.2065-29A>T) c.2063A>T (p.His688Leu) | |
| 5 | g.79314352T>A | CA360206161 | JMY | c.2160T>A (p.His720Gln) n.77-10513T>A c.2065-28T>A (n.2065-28T>A) c.2064T>A (p.His688Gln) | |
| 5 | g.79314352T>C | CA3320246 | JMY | c.2160T>C (p.His720=) n.77-10513T>C c.2065-28T>C (n.2065-28T>C) c.2064T>C (p.His688=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.79314352T>G | CA360206158 | JMY | c.2160T>G (p.His720Gln) n.77-10513T>G c.2065-28T>G (n.2065-28T>G) c.2064T>G (p.His688Gln) | |
| 5 | g.79314352T= | CA1557849854 | JMY | c.2160T= (p.His720=) n.77-10513T= c.2065-28T= (n.2065-28T=) c.2064T= (p.His688=) | |
| 5 | g.79314353T>A | CA360206171 | JMY | c.2161T>A (p.Cys721Ser) n.77-10512T>A c.2065-27T>A (n.2065-27T>A) c.2065T>A (p.Cys689Ser) | |
| 5 | g.79314353T>C | CA360206174 | JMY | c.2161T>C (p.Cys721Arg) n.77-10512T>C c.2065-27T>C (n.2065-27T>C) c.2065T>C (p.Cys689Arg) | |
| 5 | g.79314353T>G | CA360206176 | JMY | c.2161T>G (p.Cys721Gly) n.77-10512T>G c.2065-27T>G (n.2065-27T>G) c.2065T>G (p.Cys689Gly) | |
| 5 | g.79314354G>A | CA360206181 | JMY | c.2162G>A (p.Cys721Tyr) n.77-10511G>A c.2065-26G>A (n.2065-26G>A) c.2066G>A (p.Cys689Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.79314354G>C | CA360206184 | JMY | c.2162G>C (p.Cys721Ser) n.77-10511G>C c.2065-26G>C (n.2065-26G>C) c.2066G>C (p.Cys689Ser) | |
| 5 | g.79314354G= | CA1557849856 | JMY | c.2162G= (p.Cys721=) n.77-10511G= c.2065-26G= (n.2065-26G=) c.2066G= (p.Cys689=) | |
| 5 | g.79314354G>T | CA360206187 | JMY | c.2162G>T (p.Cys721Phe) n.77-10511G>T c.2065-26G>T (n.2065-26G>T) c.2066G>T (p.Cys689Phe) | dbSNP |
| 5 | g.79314355T>A | CA360206197 | JMY | c.2163T>A (p.Cys721Ter) n.77-10510T>A c.2065-25T>A (n.2065-25T>A) c.2067T>A (p.Cys689Ter) | |
| 5 | g.79314355T>C | CA445380541 | JMY | c.2163T>C (p.Cys721=) n.77-10510T>C c.2065-25T>C (n.2065-25T>C) c.2067T>C (p.Cys689=) | gnomAD v4 |
| 5 | g.79314355T>G | CA360206199 | JMY | c.2163T>G (p.Cys721Trp) n.77-10510T>G c.2065-25T>G (n.2065-25T>G) c.2067T>G (p.Cys689Trp) | |
| 5 | g.79314356G>A | CA360206203 | JMY | c.2164G>A (p.Asp722Asn) n.77-10509G>A c.2065-24G>A (n.2065-24G>A) c.2068G>A (p.Asp690Asn) | |
| 5 | g.79314356G>C | CA360206207 | JMY | c.2164G>C (p.Asp722His) n.77-10509G>C c.2065-24G>C (n.2065-24G>C) c.2068G>C (p.Asp690His) | gnomAD v4 |
| 5 | g.79314356G>T | CA360206208 | JMY | c.2164G>T (p.Asp722Tyr) n.77-10509G>T c.2065-24G>T (n.2065-24G>T) c.2068G>T (p.Asp690Tyr) | |
| 5 | g.79314357A>C | CA360206214 | JMY | c.2165A>C (p.Asp722Ala) n.77-10508A>C c.2065-23A>C (n.2065-23A>C) c.2069A>C (p.Asp690Ala) | gnomAD v4 |
| 5 | g.79314357A>G | CA360206216 | JMY | c.2165A>G (p.Asp722Gly) n.77-10508A>G c.2065-23A>G (n.2065-23A>G) c.2069A>G (p.Asp690Gly) | |
| 5 | g.79314357A>T | CA360206211 | JMY | c.2165A>T (p.Asp722Val) n.77-10508A>T c.2065-23A>T (n.2065-23A>T) c.2069A>T (p.Asp690Val) | |
| 5 | g.79314358C>A | CA360206224 | JMY | c.2166C>A (p.Asp722Glu) n.77-10507C>A c.2065-22C>A (n.2065-22C>A) c.2070C>A (p.Asp690Glu) | |
| 5 | g.79314358C= | CA1557849860 | JMY | c.2166C= (p.Asp722=) n.77-10507C= c.2065-22C= (n.2065-22C=) c.2070C= (p.Asp690=) | |
| 5 | g.79314358C>G | CA360206219 | JMY | c.2166C>G (p.Asp722Glu) n.77-10507C>G c.2065-22C>G (n.2065-22C>G) c.2070C>G (p.Asp690Glu) | |
| 5 | g.79314358C>T | CA445380547 | JMY | c.2166C>T (p.Asp722=) n.77-10507C>T c.2065-22C>T (n.2065-22C>T) c.2070C>T (p.Asp690=) | dbSNP |
| 5 | g.79314359T>A | CA360206233 | JMY | c.2167T>A (p.Ser723Thr) n.77-10506T>A c.2065-21T>A (n.2065-21T>A) c.2071T>A (p.Ser691Thr) | dbSNP gnomAD v4 |
| 5 | g.79314359T>C | CA360206226 | JMY | c.2167T>C (p.Ser723Pro) n.77-10506T>C c.2065-21T>C (n.2065-21T>C) c.2071T>C (p.Ser691Pro) | |
| 5 | g.79314359T>G | CA360206231 | JMY | c.2167T>G (p.Ser723Ala) n.77-10506T>G c.2065-21T>G (n.2065-21T>G) c.2071T>G (p.Ser691Ala) | |
| 5 | g.79314360C>A | CA360206237 | JMY | c.2168C>A (p.Ser723Tyr) n.77-10505C>A c.2065-20C>A (n.2065-20C>A) c.2072C>A (p.Ser691Tyr) | |
| 5 | g.79314360C>G | CA360206239 | JMY | c.2168C>G (p.Ser723Cys) n.77-10505C>G c.2065-20C>G (n.2065-20C>G) c.2072C>G (p.Ser691Cys) | |
| 5 | g.79314360C>T | CA360206241 | JMY | c.2168C>T (p.Ser723Phe) n.77-10505C>T c.2065-20C>T (n.2065-20C>T) c.2072C>T (p.Ser691Phe) | COSMIC COSMIC |
| 5 | g.79314361T>A | CA445380551 | JMY | c.2169T>A (p.Ser723=) n.77-10504T>A c.2065-19T>A (n.2065-19T>A) c.2073T>A (p.Ser691=) | |
| 5 | g.79314361T>C | CA445380552 | JMY | c.2169T>C (p.Ser723=) n.77-10504T>C c.2065-19T>C (n.2065-19T>C) c.2073T>C (p.Ser691=) | |
| 5 | g.79314361T>G | CA445380553 | JMY | c.2169T>G (p.Ser723=) n.77-10504T>G c.2065-19T>G (n.2065-19T>G) c.2073T>G (p.Ser691=) | |
| 5 | g.79314362T>A | CA360206244 | JMY | c.2170T>A (p.Leu724Ile) n.77-10503T>A c.2065-18T>A (n.2065-18T>A) c.2074T>A (p.Leu692Ile) | |
| 5 | g.79314362T>C | CA445380554 | JMY | c.2170T>C (p.Leu724=) n.77-10503T>C c.2065-18T>C (n.2065-18T>C) c.2074T>C (p.Leu692=) | gnomAD v4 |
| 5 | g.79314362T>G | CA3320247 | JMY | c.2170T>G (p.Leu724Val) n.77-10503T>G c.2065-18T>G (n.2065-18T>G) c.2074T>G (p.Leu692Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.79314362T= | CA1557849862 | JMY | c.2170T= (p.Leu724=) n.77-10503T= c.2065-18T= (n.2065-18T=) c.2074T= (p.Leu692=) | |
| 5 | g.79314363T>A | CA360206249 | JMY | c.2171T>A (p.Leu724Ter) n.77-10502T>A c.2065-17T>A (n.2065-17T>A) c.2075T>A (p.Leu692Ter) | |
| 5 | g.79314363T>C | CA3320248 | JMY | c.2171T>C (p.Leu724Ser) n.77-10502T>C c.2065-17T>C (n.2065-17T>C) c.2075T>C (p.Leu692Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.79314363T>G | CA360206254 | JMY | c.2171T>G (p.Leu724Ter) n.77-10502T>G c.2065-17T>G (n.2065-17T>G) c.2075T>G (p.Leu692Ter) | |
| 5 | g.79314363T= | CA1557849864 | JMY | c.2171T= (p.Leu724=) n.77-10502T= c.2065-17T= (n.2065-17T=) c.2075T= (p.Leu692=) | |
| 5 | g.79314364A>C | CA360206260 | JMY | c.2172A>C (p.Leu724Phe) n.77-10501A>C c.2065-16A>C (n.2065-16A>C) c.2076A>C (p.Leu692Phe) | |
| 5 | g.79314364A>G | CA445380556 | JMY | c.2172A>G (p.Leu724=) n.77-10501A>G c.2065-16A>G (n.2065-16A>G) c.2076A>G (p.Leu692=) | |
| 5 | g.79314364A>T | CA360206262 | JMY | c.2172A>T (p.Leu724Phe) n.77-10501A>T c.2065-16A>T (n.2065-16A>T) c.2076A>T (p.Leu692Phe) | |
| 5 | g.79314365C>A | CA360206271 | JMY | c.2173C>A (p.Pro725Thr) n.77-10500C>A c.2065-15C>A (n.2065-15C>A) c.2077C>A (p.Pro693Thr) | |
| 5 | g.79314365C>G | CA360206264 | JMY | c.2173C>G (p.Pro725Ala) n.77-10500C>G c.2065-15C>G (n.2065-15C>G) c.2077C>G (p.Pro693Ala) |