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 |
|---|---|---|---|---|---|
| 19 | g.44812219G>A | CA9504308 | BCAM | c.261G>A (p.Glu87=) c.205-7G>A (n.205-7G>A) n.256G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44812219G>C | CA406313892 | BCAM | c.261G>C (p.Glu87Asp) c.205-7G>C (n.205-7G>C) n.256G>C | |
| 19 | g.44812219G= | CA2338120326 | BCAM | c.261G= (p.Glu87=) c.205-7G= (n.205-7G=) n.256G= | |
| 19 | g.44812219G>T | CA406313889 | BCAM | c.261G>T (p.Glu87Asp) c.205-7G>T (n.205-7G>T) n.256G>T | |
| 19 | g.44812220C>A | CA406313894 | BCAM | c.262C>A (p.Leu88Ile) c.205-6C>A (n.205-6C>A) n.257C>A | |
| 19 | g.44812220C>G | CA406313896 | BCAM | c.262C>G (p.Leu88Val) c.205-6C>G (n.205-6C>G) n.257C>G | |
| 19 | g.44812220C>T | CA406313898 | BCAM | c.262C>T (p.Leu88Phe) c.205-6C>T (n.205-6C>T) n.257C>T | |
| 19 | g.44812221T>A | CA406313899 | BCAM | c.263T>A (p.Leu88His) c.205-5T>A (n.205-5T>A) n.258T>A | |
| 19 | g.44812221T>C | CA406313901 | BCAM | c.263T>C (p.Leu88Pro) c.205-5T>C (n.205-5T>C) n.258T>C | |
| 19 | g.44812221T>G | CA406313903 | BCAM | c.263T>G (p.Leu88Arg) c.205-5T>G (n.205-5T>G) n.258T>G | |
| 19 | g.44812222C>A | CA507946145 | BCAM | c.264C>A (p.Leu88=) c.205-4C>A (n.205-4C>A) n.259C>A | |
| 19 | g.44812222C= | CA2338120329 | BCAM | c.264C= (p.Leu88=) c.205-4C= (n.205-4C=) n.259C= | |
| 19 | g.44812222C>G | CA507946146 | BCAM | c.264C>G (p.Leu88=) c.205-4C>G (n.205-4C>G) n.259C>G | |
| 19 | g.44812222C>T | CA507946147 | BCAM | c.264C>T (p.Leu88=) c.205-4C>T (n.205-4C>T) n.259C>T | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44812223C>A | CA406313905 | BCAM | c.265C>A (p.Gln89Lys) c.205-3C>A (n.205-3C>A) n.260C>A | |
| 19 | g.44812223C>G | CA406313909 | BCAM | c.265C>G (p.Gln89Glu) c.205-3C>G (n.205-3C>G) n.260C>G | |
| 19 | g.44812223C>T | CA406313907 | BCAM | c.265C>T (p.Gln89Ter) c.205-3C>T (n.205-3C>T) n.260C>T | |
| 19 | g.44812224A>C | CA406313911 | BCAM | c.266A>C (p.Gln89Pro) c.205-2A>C (n.205-2A>C) n.261A>C | gnomAD v4 |
| 19 | g.44812224A>G | CA406313912 | BCAM | c.266A>G (p.Gln89Arg) c.205-2A>G (n.205-2A>G) n.261A>G | |
| 19 | g.44812224A>T | CA406313914 | BCAM | c.266A>T (p.Gln89Leu) c.205-2A>T (n.205-2A>T) n.261A>T | |
| 19 | g.44812225G>A | CA406313917 | BCAM | c.267G>A (p.Gln89=) c.205-1G>A (n.205-1G>A) n.262G>A | |
| 19 | g.44812225G>C | CA406313918 | BCAM | c.267G>C (p.Gln89His) c.205-1G>C (n.205-1G>C) n.262G>C | |
| 19 | g.44812225G>T | CA406313920 | BCAM | c.267G>T (p.Gln89His) c.205-1G>T (n.205-1G>T) n.262G>T | gnomAD v4 |
| 19 | g.44812226G>A | CA9504309 | BCAM | c.268G>A (p.Val90Ile) c.205G>A (p.Val69Ile) n.263G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44812226G>C | CA406313923 | BCAM | c.268G>C (p.Val90Leu) c.205G>C (p.Val69Leu) n.263G>C | |
| 19 | g.44812226G= | CA2338120330 | BCAM | c.268G= (p.Val90=) c.205G= (p.Val69=) n.263G= | |
| 19 | g.44812226G>T | CA406313925 | BCAM | c.268G>T (p.Val90Phe) c.205G>T (p.Val69Phe) n.263G>T | |
| 19 | g.44812227T>A | CA406313928 | BCAM | c.269T>A (p.Val90Asp) c.206T>A (p.Val69Asp) n.264T>A | gnomAD v4 |
| 19 | g.44812227T>C | CA406313929 | BCAM | c.269T>C (p.Val90Ala) c.206T>C (p.Val69Ala) n.264T>C | |
| 19 | g.44812227T>G | CA406313931 | BCAM | c.269T>G (p.Val90Gly) c.206T>G (p.Val69Gly) n.264T>G | |
| 19 | g.44812228C>A | CA507946171 | BCAM | c.270C>A (p.Val90=) c.207C>A (p.Val69=) n.265C>A | |
| 19 | g.44812228C>G | CA507946172 | BCAM | c.270C>G (p.Val90=) c.207C>G (p.Val69=) n.265C>G | COSMIC |
| 19 | g.44812228C>T | CA507946170 | BCAM | c.270C>T (p.Val90=) c.207C>T (p.Val69=) n.265C>T | |
| 19 | g.44812229A>C | CA406313933 | BCAM | c.271A>C (p.Thr91Pro) c.208A>C (p.Thr70Pro) n.266A>C | |
| 19 | g.44812229A>G | CA406313937 | BCAM | c.271A>G (p.Thr91Ala) c.208A>G (p.Thr70Ala) n.266A>G | |
| 19 | g.44812229A>T | CA406313935 | BCAM | c.271A>T (p.Thr91Ser) c.208A>T (p.Thr70Ser) n.266A>T | |
| 19 | g.44812230C>A | CA406313939 | BCAM | c.272C>A (p.Thr91Lys) c.209C>A (p.Thr70Lys) n.267C>A | |
| 19 | g.44812230C>G | CA406313941 | BCAM | c.272C>G (p.Thr91Arg) c.209C>G (p.Thr70Arg) n.267C>G | |
| 19 | g.44812230C>T | CA406313943 | BCAM | c.272C>T (p.Thr91Ile) c.209C>T (p.Thr70Ile) n.267C>T | |
| 19 | g.44812231A= | CA2338120333 | BCAM | c.273A= (p.Thr91=) c.210A= (p.Thr70=) n.268A= | |
| 19 | g.44812231A>C | CA507946180 | BCAM | c.273A>C (p.Thr91=) c.210A>C (p.Thr70=) n.268A>C | |
| 19 | g.44812231A>G | CA507946177 | BCAM | c.273A>G (p.Thr91=) c.210A>G (p.Thr70=) n.268A>G | |
| 19 | g.44812231A>T | CA507946178 | BCAM | c.273A>T (p.Thr91=) c.210A>T (p.Thr70=) n.268A>T | dbSNP |
| 19 | g.44812232A>C | CA406313946 | BCAM | c.274A>C (p.Met92Leu) c.211A>C (p.Met71Leu) n.269A>C | |
| 19 | g.44812232A>G | CA406313947 | BCAM | c.274A>G (p.Met92Val) c.211A>G (p.Met71Val) n.269A>G | |
| 19 | g.44812232A>T | CA406313949 | BCAM | c.274A>T (p.Met92Leu) c.211A>T (p.Met71Leu) n.269A>T | |
| 19 | g.44812233T>A | CA406313951 | BCAM | c.275T>A (p.Met92Lys) c.212T>A (p.Met71Lys) n.270T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44812233T>C | CA406313952 | BCAM | c.275T>C (p.Met92Thr) c.212T>C (p.Met71Thr) n.270T>C | |
| 19 | g.44812233T>G | CA406313954 | BCAM | c.275T>G (p.Met92Arg) c.212T>G (p.Met71Arg) n.270T>G | gnomAD v4 |
| 19 | g.44812233T= | CA2338120335 | BCAM | c.275T= (p.Met92=) c.212T= (p.Met71=) n.270T= |