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.41970468A= | CA2336720971 | ATP1A3 | c.2377T= (p.Phe793=) c.2338T= (p.Phe780=) c.2371T= (p.Phe791=) c.2248T= (p.Phe750=) | |
| 19 | g.41970468A>C | CA406039529 | ATP1A3 | c.2377T>G (p.Phe793Val) c.2338T>G (p.Phe780Val) c.2371T>G (p.Phe791Val) c.2248T>G (p.Phe750Val) | |
| 19 | g.41970468A>G | CA341237 | ATP1A3 | c.2377T>C (p.Phe793Leu) c.2338T>C (p.Phe780Leu) c.2371T>C (p.Phe791Leu) c.2248T>C (p.Phe750Leu) | ClinVar dbSNP |
| 19 | g.41970468A>T | CA406039531 | ATP1A3 | c.2377T>A (p.Phe793Ile) c.2338T>A (p.Phe780Ile) c.2371T>A (p.Phe791Ile) c.2248T>A (p.Phe750Ile) | |
| 19 | g.41970469G>A | CA507694839 | ATP1A3 | c.2376C>T (p.Pro792=) c.2337C>T (p.Pro779=) c.2370C>T (p.Pro790=) c.2247C>T (p.Pro749=) | dbSNP |
| 19 | g.41970469G>C | CA507694840 | ATP1A3 | c.2376C>G (p.Pro792=) c.2337C>G (p.Pro779=) c.2370C>G (p.Pro790=) c.2247C>G (p.Pro749=) | |
| 19 | g.41970469G= | CA2336720976 | ATP1A3 | c.2376C= (p.Pro792=) c.2337C= (p.Pro779=) c.2370C= (p.Pro790=) c.2247C= (p.Pro749=) | |
| 19 | g.41970469G>T | CA507694841 | ATP1A3 | c.2376C>A (p.Pro792=) c.2337C>A (p.Pro779=) c.2370C>A (p.Pro790=) c.2247C>A (p.Pro749=) | |
| 19 | g.41970470G>A | CA406039533 | ATP1A3 | c.2375C>T (p.Pro792Leu) c.2336C>T (p.Pro779Leu) c.2369C>T (p.Pro790Leu) c.2246C>T (p.Pro749Leu) | |
| 19 | g.41970470G>C | CA406039535 | ATP1A3 | c.2375C>G (p.Pro792Arg) c.2336C>G (p.Pro779Arg) c.2369C>G (p.Pro790Arg) c.2246C>G (p.Pro749Arg) | |
| 19 | g.41970470G>T | CA406039536 | ATP1A3 | c.2375C>A (p.Pro792His) c.2336C>A (p.Pro779His) c.2369C>A (p.Pro790His) c.2246C>A (p.Pro749His) | |
| 19 | g.41970471G>A | CA406039538 | ATP1A3 | c.2374C>T (p.Pro792Ser) c.2335C>T (p.Pro779Ser) c.2368C>T (p.Pro790Ser) c.2245C>T (p.Pro749Ser) | |
| 19 | g.41970471G>C | CA406039540 | ATP1A3 | c.2374C>G (p.Pro792Ala) c.2335C>G (p.Pro779Ala) c.2368C>G (p.Pro790Ala) c.2245C>G (p.Pro749Ala) | |
| 19 | g.41970471G>T | CA406039542 | ATP1A3 | c.2374C>A (p.Pro792Thr) c.2335C>A (p.Pro779Thr) c.2368C>A (p.Pro790Thr) c.2245C>A (p.Pro749Thr) | |
| 19 | g.41970472C>A | CA507694842 | ATP1A3 | c.2373G>T (p.Thr791=) c.2334G>T (p.Thr778=) c.2367G>T (p.Thr789=) c.2244G>T (p.Thr748=) | dbSNP |
| 19 | g.41970472C= | CA2336720980 | ATP1A3 | c.2373G= (p.Thr791=) c.2334G= (p.Thr778=) c.2367G= (p.Thr789=) c.2244G= (p.Thr748=) | |
| 19 | g.41970472C>G | CA507694843 | ATP1A3 | c.2373G>C (p.Thr791=) c.2334G>C (p.Thr778=) c.2367G>C (p.Thr789=) c.2244G>C (p.Thr748=) | |
| 19 | g.41970472C>T | CA9467412 | ATP1A3 | c.2373G>A (p.Thr791=) c.2334G>A (p.Thr778=) c.2367G>A (p.Thr789=) c.2244G>A (p.Thr748=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41970473G>A | CA406039545 | ATP1A3 | c.2372C>T (p.Thr791Met) c.2333C>T (p.Thr778Met) c.2366C>T (p.Thr789Met) c.2243C>T (p.Thr748Met) | gnomAD v4 |
| 19 | g.41970473G>C | CA406039546 | ATP1A3 | c.2372C>G (p.Thr791Arg) c.2333C>G (p.Thr778Arg) c.2366C>G (p.Thr789Arg) c.2243C>G (p.Thr748Arg) | |
| 19 | g.41970473G>T | CA406039548 | ATP1A3 | c.2372C>A (p.Thr791Lys) c.2333C>A (p.Thr778Lys) c.2366C>A (p.Thr789Lys) c.2243C>A (p.Thr748Lys) | |
| 19 | g.41970474T>A | CA406039549 | ATP1A3 | c.2371A>T (p.Thr791Ser) c.2332A>T (p.Thr778Ser) c.2365A>T (p.Thr789Ser) c.2242A>T (p.Thr748Ser) | |
| 19 | g.41970474T>C | CA406039553 | ATP1A3 | c.2371A>G (p.Thr791Ala) c.2332A>G (p.Thr778Ala) c.2365A>G (p.Thr789Ala) c.2242A>G (p.Thr748Ala) | |
| 19 | g.41970474T>G | CA406039551 | ATP1A3 | c.2371A>C (p.Thr791Pro) c.2332A>C (p.Thr778Pro) c.2365A>C (p.Thr789Pro) c.2242A>C (p.Thr748Pro) | ClinVar dbSNP |
| 19 | g.41970474T= | CA2336720987 | ATP1A3 | c.2371A= (p.Thr791=) c.2332A= (p.Thr778=) c.2365A= (p.Thr789=) c.2242A= (p.Thr748=) | |
| 19 | g.41970475G>A | CA9467413 | ATP1A3 | c.2370C>T (p.Ile790=) c.2331C>T (p.Ile777=) c.2364C>T (p.Ile788=) c.2241C>T (p.Ile747=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.41970475G>C | CA406039555 | ATP1A3 | c.2370C>G (p.Ile790Met) c.2331C>G (p.Ile777Met) c.2364C>G (p.Ile788Met) c.2241C>G (p.Ile747Met) | |
| 19 | g.41970475G= | CA2336720990 | ATP1A3 | c.2370C= (p.Ile790=) c.2331C= (p.Ile777=) c.2364C= (p.Ile788=) c.2241C= (p.Ile747=) | |
| 19 | g.41970475G>T | CA507694844 | ATP1A3 | c.2370C>A (p.Ile790=) c.2331C>A (p.Ile777=) c.2364C>A (p.Ile788=) c.2241C>A (p.Ile747=) | |
| 19 | g.41970476A= | CA2336720992 | ATP1A3 | c.2369T= (p.Ile790=) c.2330T= (p.Ile777=) c.2363T= (p.Ile788=) c.2240T= (p.Ile747=) | |
| 19 | g.41970476A>C | CA406039556 | ATP1A3 | c.2369T>G (p.Ile790Ser) c.2330T>G (p.Ile777Ser) c.2363T>G (p.Ile788Ser) c.2240T>G (p.Ile747Ser) | |
| 19 | g.41970476A>G | CA406039558 | ATP1A3 | c.2369T>C (p.Ile790Thr) c.2330T>C (p.Ile777Thr) c.2363T>C (p.Ile788Thr) c.2240T>C (p.Ile747Thr) | |
| 19 | g.41970476A>T | CA406039560 | ATP1A3 | c.2369T>A (p.Ile790Asn) c.2330T>A (p.Ile777Asn) c.2363T>A (p.Ile788Asn) c.2240T>A (p.Ile747Asn) | ClinVar dbSNP |
| 19 | g.41970477T>A | CA406039562 | ATP1A3 | c.2368A>T (p.Ile790Phe) c.2329A>T (p.Ile777Phe) c.2362A>T (p.Ile788Phe) c.2239A>T (p.Ile747Phe) | |
| 19 | g.41970477T>C | CA406039563 | ATP1A3 | c.2368A>G (p.Ile790Val) c.2329A>G (p.Ile777Val) c.2362A>G (p.Ile788Val) c.2239A>G (p.Ile747Val) | |
| 19 | g.41970477T>G | CA406039565 | ATP1A3 | c.2368A>C (p.Ile790Leu) c.2329A>C (p.Ile777Leu) c.2362A>C (p.Ile788Leu) c.2239A>C (p.Ile747Leu) | |
| 19 | g.41970478C>A | CA406039567 | ATP1A3 | c.2367G>T (p.Glu789Asp) c.2328G>T (p.Glu776Asp) c.2361G>T (p.Glu787Asp) c.2238G>T (p.Glu746Asp) | |
| 19 | g.41970478C= | CA2336720999 | ATP1A3 | c.2367G= (p.Glu789=) c.2328G= (p.Glu776=) c.2361G= (p.Glu787=) c.2238G= (p.Glu746=) | |
| 19 | g.41970478C>G | CA406039568 | ATP1A3 | c.2367G>C (p.Glu789Asp) c.2328G>C (p.Glu776Asp) c.2361G>C (p.Glu787Asp) c.2238G>C (p.Glu746Asp) | ClinVar dbSNP |
| 19 | g.41970478C>T | CA507694845 | ATP1A3 | c.2367G>A (p.Glu789=) c.2328G>A (p.Glu776=) c.2361G>A (p.Glu787=) c.2238G>A (p.Glu746=) | |
| 19 | g.41970479T>A | CA406039570 | ATP1A3 | c.2366A>T (p.Glu789Val) c.2327A>T (p.Glu776Val) c.2360A>T (p.Glu787Val) c.2237A>T (p.Glu746Val) | |
| 19 | g.41970479T>C | CA406039571 | ATP1A3 | c.2366A>G (p.Glu789Gly) c.2327A>G (p.Glu776Gly) c.2360A>G (p.Glu787Gly) c.2237A>G (p.Glu746Gly) | |
| 19 | g.41970479T>G | CA406039573 | ATP1A3 | c.2366A>C (p.Glu789Ala) c.2327A>C (p.Glu776Ala) c.2360A>C (p.Glu787Ala) c.2237A>C (p.Glu746Ala) | |
| 19 | g.41970480C>A | CA406039578 | ATP1A3 | c.2365G>T (p.Glu789Ter) c.2326G>T (p.Glu776Ter) c.2359G>T (p.Glu787Ter) c.2236G>T (p.Glu746Ter) | |
| 19 | g.41970480C>G | CA406039575 | ATP1A3 | c.2365G>C (p.Glu789Gln) c.2326G>C (p.Glu776Gln) c.2359G>C (p.Glu787Gln) c.2236G>C (p.Glu746Gln) | |
| 19 | g.41970480C>T | CA406039577 | ATP1A3 | c.2365G>A (p.Glu789Lys) c.2326G>A (p.Glu776Lys) c.2359G>A (p.Glu787Lys) c.2236G>A (p.Glu746Lys) | ClinVar dbSNP |
| 19 | g.41970481C>A | CA507583158 | ATP1A3 | c.2364G>T (p.Pro788=) c.2325G>T (p.Pro775=) c.2358G>T (p.Pro786=) c.2235G>T (p.Pro745=) | |
| 19 | g.41970481C= | CA2336721003 | ATP1A3 | c.2364G= (p.Pro788=) c.2325G= (p.Pro775=) c.2358G= (p.Pro786=) c.2235G= (p.Pro745=) | |
| 19 | g.41970481C>G | CA507583159 | ATP1A3 | c.2364G>C (p.Pro788=) c.2325G>C (p.Pro775=) c.2358G>C (p.Pro786=) c.2235G>C (p.Pro745=) | ClinVar dbSNP |
| 19 | g.41970481C>T | CA9467414 | ATP1A3 | c.2364G>A (p.Pro788=) c.2325G>A (p.Pro775=) c.2358G>A (p.Pro786=) c.2235G>A (p.Pro745=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |