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.28903074A= | CA2215889066 | ATP2A1 | c.2789A= (p.Asn930=) c.2414A= (p.Asn805=) | |
| 16 | g.28903074A>C | CA395415491 | ATP2A1 | c.2789A>C (p.Asn930Thr) c.2414A>C (p.Asn805Thr) | |
| 16 | g.28903074A>G | CA7987405 | ATP2A1 | c.2789A>G (p.Asn930Ser) c.2414A>G (p.Asn805Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.28903074A>T | CA395415492 | ATP2A1 | c.2789A>T (p.Asn930Ile) c.2414A>T (p.Asn805Ile) | |
| 16 | g.28903075C>A | CA7987406 | ATP2A1 | c.2790C>A (p.Asn930Lys) c.2415C>A (p.Asn805Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.28903075C= | CA2215889070 | ATP2A1 | c.2790C= (p.Asn930=) c.2415C= (p.Asn805=) | |
| 16 | g.28903075C>G | CA395415493 | ATP2A1 | c.2790C>G (p.Asn930Lys) c.2415C>G (p.Asn805Lys) | |
| 16 | g.28903075C>T | CA494874494 | ATP2A1 | c.2790C>T (p.Asn930=) c.2415C>T (p.Asn805=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.28903076A>C | CA395415494 | ATP2A1 | c.2791A>C (p.Ile931Leu) c.2416A>C (p.Ile806Leu) | |
| 16 | g.28903076A>G | CA395415495 | ATP2A1 | c.2791A>G (p.Ile931Val) c.2416A>G (p.Ile806Val) | |
| 16 | g.28903076A>T | CA395415496 | ATP2A1 | c.2791A>T (p.Ile931Phe) c.2416A>T (p.Ile806Phe) | |
| 16 | g.28903077T>A | CA395415497 | ATP2A1 | c.2792T>A (p.Ile931Asn) c.2417T>A (p.Ile806Asn) | |
| 16 | g.28903077T>C | CA395415498 | ATP2A1 | c.2792T>C (p.Ile931Thr) c.2417T>C (p.Ile806Thr) | |
| 16 | g.28903077T>G | CA395415499 | ATP2A1 | c.2792T>G (p.Ile931Ser) c.2417T>G (p.Ile806Ser) | |
| 16 | g.28903078C>A | CA494874495 | ATP2A1 | c.2793C>A (p.Ile931=) c.2418C>A (p.Ile806=) | |
| 16 | g.28903078C>G | CA395415500 | ATP2A1 | c.2793C>G (p.Ile931Met) c.2418C>G (p.Ile806Met) | |
| 16 | g.28903078C>T | CA494874496 | ATP2A1 | c.2793C>T (p.Ile931=) c.2418C>T (p.Ile806=) | gnomAD v4 |
| 16 | g.28903079T>A | CA395415501 | ATP2A1 | c.2794T>A (p.Trp932Arg) c.2419T>A (p.Trp807Arg) | |
| 16 | g.28903079T>C | CA395415502 | ATP2A1 | c.2794T>C (p.Trp932Arg) c.2419T>C (p.Trp807Arg) | |
| 16 | g.28903079T>G | CA395415503 | ATP2A1 | c.2794T>G (p.Trp932Gly) c.2419T>G (p.Trp807Gly) | |
| 16 | g.28903080G>A | CA395415504 | ATP2A1 | c.2795G>A (p.Trp932Ter) c.2420G>A (p.Trp807Ter) | |
| 16 | g.28903080G>C | CA395415505 | ATP2A1 | c.2795G>C (p.Trp932Ser) c.2420G>C (p.Trp807Ser) | |
| 16 | g.28903080G>T | CA395415506 | ATP2A1 | c.2795G>T (p.Trp932Leu) c.2420G>T (p.Trp807Leu) | |
| 16 | g.28903081G>A | CA395415509 | ATP2A1 | c.2796G>A (p.Trp932Ter) c.2421G>A (p.Trp807Ter) | |
| 16 | g.28903081G>C | CA395415508 | ATP2A1 | c.2796G>C (p.Trp932Cys) c.2421G>C (p.Trp807Cys) | |
| 16 | g.28903081G>T | CA395415507 | ATP2A1 | c.2796G>T (p.Trp932Cys) c.2421G>T (p.Trp807Cys) | |
| 16 | g.28903082C>A | CA395415510 | ATP2A1 | c.2797C>A (p.Leu933Met) c.2422C>A (p.Leu808Met) | |
| 16 | g.28903082C>G | CA395415511 | ATP2A1 | c.2797C>G (p.Leu933Val) c.2422C>G (p.Leu808Val) | |
| 16 | g.28903082C>T | CA494874497 | ATP2A1 | c.2797C>T (p.Leu933=) c.2422C>T (p.Leu808=) | |
| 16 | g.28903083T>A | CA395415512 | ATP2A1 | c.2798T>A (p.Leu933Gln) c.2423T>A (p.Leu808Gln) | |
| 16 | g.28903083T>C | CA395415513 | ATP2A1 | c.2798T>C (p.Leu933Pro) c.2423T>C (p.Leu808Pro) | |
| 16 | g.28903083T>G | CA395415514 | ATP2A1 | c.2798T>G (p.Leu933Arg) c.2423T>G (p.Leu808Arg) | |
| 16 | g.28903084G>A | CA494874498 | ATP2A1 | c.2799G>A (p.Leu933=) c.2424G>A (p.Leu808=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28903084G>C | CA494874499 | ATP2A1 | c.2799G>C (p.Leu933=) c.2424G>C (p.Leu808=) | |
| 16 | g.28903084G= | CA2215889072 | ATP2A1 | c.2799G= (p.Leu933=) c.2424G= (p.Leu808=) | |
| 16 | g.28903084G>T | CA494874500 | ATP2A1 | c.2799G>T (p.Leu933=) c.2424G>T (p.Leu808=) | |
| 16 | g.28903085C>A | CA395415515 | ATP2A1 | c.2800C>A (p.Leu934Met) c.2425C>A (p.Leu809Met) | |
| 16 | g.28903085C= | CA2215889077 | ATP2A1 | c.2800C= (p.Leu934=) c.2425C= (p.Leu809=) | |
| 16 | g.28903085C>G | CA279244797 | ATP2A1 | c.2800C>G (p.Leu934Val) c.2425C>G (p.Leu809Val) | dbSNP |
| 16 | g.28903085C>T | CA494874501 | ATP2A1 | c.2800C>T (p.Leu934=) c.2425C>T (p.Leu809=) | |
| 16 | g.28903086T>A | CA395415516 | ATP2A1 | c.2801T>A (p.Leu934Gln) c.2426T>A (p.Leu809Gln) | |
| 16 | g.28903086T>C | CA395415517 | ATP2A1 | c.2801T>C (p.Leu934Pro) c.2426T>C (p.Leu809Pro) | |
| 16 | g.28903086T>G | CA395415518 | ATP2A1 | c.2801T>G (p.Leu934Arg) c.2426T>G (p.Leu809Arg) | |
| 16 | g.28903087G>A | CA494874504 | ATP2A1 | c.2802G>A (p.Leu934=) c.2427G>A (p.Leu809=) | |
| 16 | g.28903087G>C | CA494874503 | ATP2A1 | c.2802G>C (p.Leu934=) c.2427G>C (p.Leu809=) | dbSNP |
| 16 | g.28903087G= | CA2215889082 | ATP2A1 | c.2802G= (p.Leu934=) c.2427G= (p.Leu809=) | |
| 16 | g.28903087G>T | CA494874502 | ATP2A1 | c.2802G>T (p.Leu934=) c.2427G>T (p.Leu809=) | |
| 16 | g.28903088G>A | CA395415520 | ATP2A1 | c.2803G>A (p.Gly935Ser) c.2428G>A (p.Gly810Ser) | |
| 16 | g.28903088G>C | CA395415521 | ATP2A1 | c.2803G>C (p.Gly935Arg) c.2428G>C (p.Gly810Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.28903088G= | CA2215889085 | ATP2A1 | c.2803G= (p.Gly935=) c.2428G= (p.Gly810=) |