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 |
|---|---|---|---|---|---|
| 16 | g.28902898A>C | CA395415354 | ATP2A1 | c.2731A>C (p.Asn911His) c.2356A>C (p.Asn786His) | |
| 16 | g.28902898A>G | CA395415355 | ATP2A1 | c.2731A>G (p.Asn911Asp) c.2356A>G (p.Asn786Asp) | gnomAD v4 |
| 16 | g.28902898A>T | CA395415356 | ATP2A1 | c.2731A>T (p.Asn911Tyr) c.2356A>T (p.Asn786Tyr) | |
| 16 | g.28902899A= | CA2215888652 | ATP2A1 | c.2732A= (p.Asn911=) c.2357A= (p.Asn786=) | |
| 16 | g.28902899A>C | CA395415357 | ATP2A1 | c.2732A>C (p.Asn911Thr) c.2357A>C (p.Asn786Thr) | |
| 16 | g.28902899A>G | CA395415358 | ATP2A1 | c.2732A>G (p.Asn911Ser) c.2357A>G (p.Asn786Ser) | |
| 16 | g.28902899A>T | CA395415359 | ATP2A1 | c.2732A>T (p.Asn911Ile) c.2357A>T (p.Asn786Ile) | |
| 16 | g.28902900T>A | CA395415360 | ATP2A1 | c.2733T>A (p.Asn911Lys) c.2358T>A (p.Asn786Lys) | |
| 16 | g.28902900T>C | CA494874692 | ATP2A1 | c.2733T>C (p.Asn911=) c.2358T>C (p.Asn786=) | dbSNP |
| 16 | g.28902900T>G | CA395415361 | ATP2A1 | c.2733T>G (p.Asn911Lys) c.2358T>G (p.Asn786Lys) | |
| 16 | g.28902900T= | CA2215888655 | ATP2A1 | c.2733T= (p.Asn911=) c.2358T= (p.Asn786=) | |
| 16 | g.28902900dup | CA622162562 | ATP2A1 | c.2733dup (p.Ala912CysfsTer?) c.2358dup (p.Ala787CysfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28902901G>A | CA395415364 | ATP2A1 | c.2734G>A (p.Ala912Thr) c.2359G>A (p.Ala787Thr) | |
| 16 | g.28902901G>C | CA395415363 | ATP2A1 | c.2734G>C (p.Ala912Pro) c.2359G>C (p.Ala787Pro) | |
| 16 | g.28902901G>T | CA395415362 | ATP2A1 | c.2734G>T (p.Ala912Ser) c.2359G>T (p.Ala787Ser) | |
| 16 | g.28902902C>A | CA395415365 | ATP2A1 | c.2735C>A (p.Ala912Glu) c.2360C>A (p.Ala787Glu) | |
| 16 | g.28902902C= | CA2215888657 | ATP2A1 | c.2735C= (p.Ala912=) c.2360C= (p.Ala787=) | |
| 16 | g.28902902C>G | CA395415367 | ATP2A1 | c.2735C>G (p.Ala912Gly) c.2360C>G (p.Ala787Gly) | |
| 16 | g.28902902C>T | CA395415366 | ATP2A1 | c.2735C>T (p.Ala912Val) c.2360C>T (p.Ala787Val) | dbSNP gnomAD v2 |
| 16 | g.28902903A>C | CA494874698 | ATP2A1 | c.2736A>C (p.Ala912=) c.2361A>C (p.Ala787=) | |
| 16 | g.28902903A>G | CA494874697 | ATP2A1 | c.2736A>G (p.Ala912=) c.2361A>G (p.Ala787=) | |
| 16 | g.28902903A>T | CA494874696 | ATP2A1 | c.2736A>T (p.Ala912=) c.2361A>T (p.Ala787=) | |
| 16 | g.28902904C>A | CA395415368 | ATP2A1 | c.2737C>A (p.Leu913Met) c.2362C>A (p.Leu788Met) | |
| 16 | g.28902904C= | CA2215888660 | ATP2A1 | c.2737C= (p.Leu913=) c.2362C= (p.Leu788=) | |
| 16 | g.28902904C>G | CA395415369 | ATP2A1 | c.2737C>G (p.Leu913Val) c.2362C>G (p.Leu788Val) | dbSNP |
| 16 | g.28902904C>T | CA494874701 | ATP2A1 | c.2737C>T (p.Leu913=) c.2362C>T (p.Leu788=) | |
| 16 | g.28902905T>A | CA395415370 | ATP2A1 | c.2738T>A (p.Leu913Gln) c.2363T>A (p.Leu788Gln) | |
| 16 | g.28902905T>C | CA395415371 | ATP2A1 | c.2738T>C (p.Leu913Pro) c.2363T>C (p.Leu788Pro) | |
| 16 | g.28902905T>G | CA395415372 | ATP2A1 | c.2738T>G (p.Leu913Arg) c.2363T>G (p.Leu788Arg) | |
| 16 | g.28902906G>A | CA494874703 | ATP2A1 | c.2739G>A (p.Leu913=) c.2364G>A (p.Leu788=) | |
| 16 | g.28902906G>C | CA494874704 | ATP2A1 | c.2739G>C (p.Leu913=) c.2364G>C (p.Leu788=) | |
| 16 | g.28902906G>T | CA494874705 | ATP2A1 | c.2739G>T (p.Leu913=) c.2364G>T (p.Leu788=) | |
| 16 | g.28902907A>C | CA395415373 | ATP2A1 | c.2740A>C (p.Asn914His) c.2365A>C (p.Asn789His) | |
| 16 | g.28902907A>G | CA395415374 | ATP2A1 | c.2740A>G (p.Asn914Asp) c.2365A>G (p.Asn789Asp) | |
| 16 | g.28902907A>T | CA395415375 | ATP2A1 | c.2740A>T (p.Asn914Tyr) c.2365A>T (p.Asn789Tyr) | |
| 16 | g.28902908A>C | CA395415376 | ATP2A1 | c.2741A>C (p.Asn914Thr) c.2366A>C (p.Asn789Thr) | |
| 16 | g.28902908A>G | CA395415377 | ATP2A1 | c.2741A>G (p.Asn914Ser) c.2366A>G (p.Asn789Ser) | COSMIC COSMIC |
| 16 | g.28902908A>T | CA395415378 | ATP2A1 | c.2741A>T (p.Asn914Ile) c.2366A>T (p.Asn789Ile) | |
| 16 | g.28902909C>A | CA395415379 | ATP2A1 | c.2742C>A (p.Asn914Lys) c.2367C>A (p.Asn789Lys) | |
| 16 | g.28902909C= | CA2215888663 | ATP2A1 | c.2742C= (p.Asn914=) c.2367C= (p.Asn789=) | |
| 16 | g.28902909C>G | CA395415380 | ATP2A1 | c.2742C>G (p.Asn914Lys) c.2367C>G (p.Asn789Lys) | dbSNP |
| 16 | g.28902909C>T | CA494874461 | ATP2A1 | c.2742C>T (p.Asn914=) c.2367C>T (p.Asn789=) | |
| 16 | g.28902910A>C | CA395415383 | ATP2A1 | c.2743A>C (p.Ser915Arg) c.2368A>C (p.Ser790Arg) | |
| 16 | g.28902910A>G | CA395415382 | ATP2A1 | c.2743A>G (p.Ser915Gly) c.2368A>G (p.Ser790Gly) | |
| 16 | g.28902910A>T | CA395415381 | ATP2A1 | c.2743A>T (p.Ser915Cys) c.2368A>T (p.Ser790Cys) | |
| 16 | g.28902911G>A | CA395415384 | ATP2A1 | c.2744G>A (p.Ser915Asn) c.2369G>A (p.Ser790Asn) | gnomAD v4 COSMIC COSMIC |
| 16 | g.28902911G>C | CA395415385 | ATP2A1 | c.2744G>C (p.Ser915Thr) c.2369G>C (p.Ser790Thr) | |
| 16 | g.28902911G>T | CA395415386 | ATP2A1 | c.2744G>T (p.Ser915Ile) c.2369G>T (p.Ser790Ile) | |
| 16 | g.28902912G>A | CA395415387 | ATP2A1 | c.2744+1G>A (n.2744+1G>A) c.2369+1G>A (n.2369+1G>A) | ClinVar dbSNP gnomAD v4 |
| 16 | g.28902912G>C | CA279244525 | ATP2A1 | c.2744+1G>C (n.2744+1G>C) c.2369+1G>C (n.2369+1G>C) | dbSNP |