WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41970440G>A | CA406039421 | ATP1A3 | c.2405C>T (p.Pro802Leu) c.2366C>T (p.Pro789Leu) c.2399C>T (p.Pro800Leu) c.2276C>T (p.Pro759Leu) | ClinVar dbSNP gnomAD v4 |
| 19 | g.41970440G>C | CA406039422 | ATP1A3 | c.2405C>G (p.Pro802Arg) c.2366C>G (p.Pro789Arg) c.2399C>G (p.Pro800Arg) c.2276C>G (p.Pro759Arg) | |
| 19 | g.41970440G>T | CA406039423 | ATP1A3 | c.2405C>A (p.Pro802Gln) c.2366C>A (p.Pro789Gln) c.2399C>A (p.Pro800Gln) c.2276C>A (p.Pro759Gln) | |
| 19 | g.41970441G>A | CA406039425 | ATP1A3 | c.2404C>T (p.Pro802Ser) c.2365C>T (p.Pro789Ser) c.2398C>T (p.Pro800Ser) c.2275C>T (p.Pro759Ser) | |
| 19 | g.41970441G>C | CA406039426 | ATP1A3 | c.2404C>G (p.Pro802Ala) c.2365C>G (p.Pro789Ala) c.2398C>G (p.Pro800Ala) c.2275C>G (p.Pro759Ala) | gnomAD v4 |
| 19 | g.41970441G>T | CA406039428 | ATP1A3 | c.2404C>A (p.Pro802Thr) c.2365C>A (p.Pro789Thr) c.2398C>A (p.Pro800Thr) c.2275C>A (p.Pro759Thr) | |
| 19 | g.41970442G>A | CA507694821 | ATP1A3 | c.2403C>T (p.Ile801=) c.2364C>T (p.Ile788=) c.2397C>T (p.Ile799=) c.2274C>T (p.Ile758=) | ClinVar dbSNP |
| 19 | g.41970442G>C | CA406039430 | ATP1A3 | c.2403C>G (p.Ile801Met) c.2364C>G (p.Ile788Met) c.2397C>G (p.Ile799Met) c.2274C>G (p.Ile758Met) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.41970442G= | CA2336720961 | ATP1A3 | c.2403C= (p.Ile801=) c.2364C= (p.Ile788=) c.2397C= (p.Ile799=) c.2274C= (p.Ile758=) | |
| 19 | g.41970442G>T | CA507694822 | ATP1A3 | c.2403C>A (p.Ile801=) c.2364C>A (p.Ile788=) c.2397C>A (p.Ile799=) c.2274C>A (p.Ile758=) | ClinVar gnomAD v4 |
| 19 | g.41970443A>C | CA406039432 | ATP1A3 | c.2402T>G (p.Ile801Ser) c.2363T>G (p.Ile788Ser) c.2396T>G (p.Ile799Ser) c.2273T>G (p.Ile758Ser) | |
| 19 | g.41970443A>G | CA406039434 | ATP1A3 | c.2402T>C (p.Ile801Thr) c.2363T>C (p.Ile788Thr) c.2396T>C (p.Ile799Thr) c.2273T>C (p.Ile758Thr) | |
| 19 | g.41970443A>T | CA406039436 | ATP1A3 | c.2402T>A (p.Ile801Asn) c.2363T>A (p.Ile788Asn) c.2396T>A (p.Ile799Asn) c.2273T>A (p.Ile758Asn) | |
| 19 | g.41970444T>A | CA406039438 | ATP1A3 | c.2401A>T (p.Ile801Phe) c.2362A>T (p.Ile788Phe) c.2395A>T (p.Ile799Phe) c.2272A>T (p.Ile758Phe) | |
| 19 | g.41970444T>C | CA406039442 | ATP1A3 | c.2401A>G (p.Ile801Val) c.2362A>G (p.Ile788Val) c.2395A>G (p.Ile799Val) c.2272A>G (p.Ile758Val) | |
| 19 | g.41970444T>G | CA406039439 | ATP1A3 | c.2401A>C (p.Ile801Leu) c.2362A>C (p.Ile788Leu) c.2395A>C (p.Ile799Leu) c.2272A>C (p.Ile758Leu) | |
| 19 | g.41970445G>A | CA507694823 | ATP1A3 | c.2400C>T (p.Asn800=) c.2361C>T (p.Asn787=) c.2394C>T (p.Asn798=) c.2271C>T (p.Asn757=) | gnomAD v4 |
| 19 | g.41970445G>C | CA406039443 | ATP1A3 | c.2400C>G (p.Asn800Lys) c.2361C>G (p.Asn787Lys) c.2394C>G (p.Asn798Lys) c.2271C>G (p.Asn757Lys) | |
| 19 | g.41970445G>T | CA406039445 | ATP1A3 | c.2400C>A (p.Asn800Lys) c.2361C>A (p.Asn787Lys) c.2394C>A (p.Asn798Lys) c.2271C>A (p.Asn757Lys) | |
| 19 | g.41970446T>A | CA406039447 | ATP1A3 | c.2399A>T (p.Asn800Ile) c.2360A>T (p.Asn787Ile) c.2393A>T (p.Asn798Ile) c.2270A>T (p.Asn757Ile) | |
| 19 | g.41970446T>C | CA406039448 | ATP1A3 | c.2399A>G (p.Asn800Ser) c.2360A>G (p.Asn787Ser) c.2393A>G (p.Asn798Ser) c.2270A>G (p.Asn757Ser) | COSMIC |
| 19 | g.41970446T>G | CA406039450 | ATP1A3 | c.2399A>C (p.Asn800Thr) c.2360A>C (p.Asn787Thr) c.2393A>C (p.Asn798Thr) c.2270A>C (p.Asn757Thr) | |
| 19 | g.41970447T>A | CA406039456 | ATP1A3 | c.2398A>T (p.Asn800Tyr) c.2359A>T (p.Asn787Tyr) c.2392A>T (p.Asn798Tyr) c.2269A>T (p.Asn757Tyr) | |
| 19 | g.41970447T>C | CA406039454 | ATP1A3 | c.2398A>G (p.Asn800Asp) c.2359A>G (p.Asn787Asp) c.2392A>G (p.Asn798Asp) c.2269A>G (p.Asn757Asp) | |
| 19 | g.41970447T>G | CA406039452 | ATP1A3 | c.2398A>C (p.Asn800His) c.2359A>C (p.Asn787His) c.2392A>C (p.Asn798His) c.2269A>C (p.Asn757His) | |
| 19 | g.41970448G>A | CA507694824 | ATP1A3 | c.2397C>T (p.Ala799=) c.2358C>T (p.Ala786=) c.2391C>T (p.Ala797=) c.2268C>T (p.Ala756=) | gnomAD v4 |
| 19 | g.41970448G>C | CA507694825 | ATP1A3 | c.2397C>G (p.Ala799=) c.2358C>G (p.Ala786=) c.2391C>G (p.Ala797=) c.2268C>G (p.Ala756=) | |
| 19 | g.41970448G>T | CA507694826 | ATP1A3 | c.2397C>A (p.Ala799=) c.2358C>A (p.Ala786=) c.2391C>A (p.Ala797=) c.2268C>A (p.Ala756=) | |
| 19 | g.41970449G>A | CA406039458 | ATP1A3 | c.2396C>T (p.Ala799Val) c.2357C>T (p.Ala786Val) c.2390C>T (p.Ala797Val) c.2267C>T (p.Ala756Val) | |
| 19 | g.41970449G>C | CA406039459 | ATP1A3 | c.2396C>G (p.Ala799Gly) c.2357C>G (p.Ala786Gly) c.2390C>G (p.Ala797Gly) c.2267C>G (p.Ala756Gly) | |
| 19 | g.41970449G>T | CA406039461 | ATP1A3 | c.2396C>A (p.Ala799Asp) c.2357C>A (p.Ala786Asp) c.2390C>A (p.Ala797Asp) c.2267C>A (p.Ala756Asp) | |
| 19 | g.41970450C>A | CA406039463 | ATP1A3 | c.2395G>T (p.Ala799Ser) c.2356G>T (p.Ala786Ser) c.2389G>T (p.Ala797Ser) c.2266G>T (p.Ala756Ser) | gnomAD v4 |
| 19 | g.41970450C>G | CA406039465 | ATP1A3 | c.2395G>C (p.Ala799Pro) c.2356G>C (p.Ala786Pro) c.2389G>C (p.Ala797Pro) c.2266G>C (p.Ala756Pro) | |
| 19 | g.41970450C>T | CA406039466 | ATP1A3 | c.2395G>A (p.Ala799Thr) c.2356G>A (p.Ala786Thr) c.2389G>A (p.Ala797Thr) c.2266G>A (p.Ala756Thr) | |
| 19 | g.41970451C>A | CA406039467 | ATP1A3 | c.2394G>T (p.Met798Ile) c.2355G>T (p.Met785Ile) c.2388G>T (p.Met796Ile) c.2265G>T (p.Met755Ile) | |
| 19 | g.41970451C>G | CA406039469 | ATP1A3 | c.2394G>C (p.Met798Ile) c.2355G>C (p.Met785Ile) c.2388G>C (p.Met796Ile) c.2265G>C (p.Met755Ile) | |
| 19 | g.41970451C>T | CA406039468 | ATP1A3 | c.2394G>A (p.Met798Ile) c.2355G>A (p.Met785Ile) c.2388G>A (p.Met796Ile) c.2265G>A (p.Met755Ile) | |
| 19 | g.41970452A= | CA2336720962 | ATP1A3 | c.2393T= (p.Met798=) c.2354T= (p.Met785=) c.2387T= (p.Met796=) c.2264T= (p.Met755=) | |
| 19 | g.41970452A>C | CA406039470 | ATP1A3 | c.2393T>G (p.Met798Arg) c.2354T>G (p.Met785Arg) c.2387T>G (p.Met796Arg) c.2264T>G (p.Met755Arg) | |
| 19 | g.41970452A>G | CA406039471 | ATP1A3 | c.2393T>C (p.Met798Thr) c.2354T>C (p.Met785Thr) c.2387T>C (p.Met796Thr) c.2264T>C (p.Met755Thr) | |
| 19 | g.41970452A>T | CA406039472 | ATP1A3 | c.2393T>A (p.Met798Lys) c.2354T>A (p.Met785Lys) c.2387T>A (p.Met796Lys) c.2264T>A (p.Met755Lys) | ClinVar dbSNP |
| 19 | g.41970453T>A | CA406039474 | ATP1A3 | c.2392A>T (p.Met798Leu) c.2353A>T (p.Met785Leu) c.2386A>T (p.Met796Leu) c.2263A>T (p.Met755Leu) | |
| 19 | g.41970453T>C | CA406039475 | ATP1A3 | c.2392A>G (p.Met798Val) c.2353A>G (p.Met785Val) c.2386A>G (p.Met796Val) c.2263A>G (p.Met755Val) | ClinVar |
| 19 | g.41970453T>G | CA406039477 | ATP1A3 | c.2392A>C (p.Met798Leu) c.2353A>C (p.Met785Leu) c.2386A>C (p.Met796Leu) c.2263A>C (p.Met755Leu) | gnomAD v4 |
| 19 | g.41970454G>A | CA507694827 | ATP1A3 | c.2391C>T (p.Ile797=) c.2352C>T (p.Ile784=) c.2385C>T (p.Ile795=) c.2262C>T (p.Ile754=) | |
| 19 | g.41970454G>C | CA406039479 | ATP1A3 | c.2391C>G (p.Ile797Met) c.2352C>G (p.Ile784Met) c.2385C>G (p.Ile795Met) c.2262C>G (p.Ile754Met) | |
| 19 | g.41970454G>T | CA507694828 | ATP1A3 | c.2391C>A (p.Ile797=) c.2352C>A (p.Ile784=) c.2385C>A (p.Ile795=) c.2262C>A (p.Ile754=) | |
| 19 | g.41970455A>C | CA406039480 | ATP1A3 | c.2390T>G (p.Ile797Ser) c.2351T>G (p.Ile784Ser) c.2384T>G (p.Ile795Ser) c.2261T>G (p.Ile754Ser) | |
| 19 | g.41970455A>G | CA406039481 | ATP1A3 | c.2390T>C (p.Ile797Thr) c.2351T>C (p.Ile784Thr) c.2384T>C (p.Ile795Thr) c.2261T>C (p.Ile754Thr) | |
| 19 | g.41970455A>T | CA406039483 | ATP1A3 | c.2390T>A (p.Ile797Asn) c.2351T>A (p.Ile784Asn) c.2384T>A (p.Ile795Asn) c.2261T>A (p.Ile754Asn) |