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.28903067T>A | CA395415473 | ATP2A1 | c.2782T>A (p.Trp928Arg) c.2407T>A (p.Trp803Arg) | |
| 16 | g.28903067T>C | CA395415474 | ATP2A1 | c.2782T>C (p.Trp928Arg) c.2407T>C (p.Trp803Arg) | |
| 16 | g.28903067T>G | CA395415475 | ATP2A1 | c.2782T>G (p.Trp928Gly) c.2407T>G (p.Trp803Gly) | |
| 16 | g.28903068G>A | CA395415478 | ATP2A1 | c.2783G>A (p.Trp928Ter) c.2408G>A (p.Trp803Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28903068G>C | CA395415477 | ATP2A1 | c.2783G>C (p.Trp928Ser) c.2408G>C (p.Trp803Ser) | |
| 16 | g.28903068G= | CA2215889058 | ATP2A1 | c.2783G= (p.Trp928=) c.2408G= (p.Trp803=) | |
| 16 | g.28903068G>T | CA395415476 | ATP2A1 | c.2783G>T (p.Trp928Leu) c.2408G>T (p.Trp803Leu) | |
| 16 | g.28903069G>A | CA395415481 | ATP2A1 | c.2784G>A (p.Trp928Ter) c.2409G>A (p.Trp803Ter) | gnomAD v4 |
| 16 | g.28903069G>C | CA395415479 | ATP2A1 | c.2784G>C (p.Trp928Cys) c.2409G>C (p.Trp803Cys) | gnomAD v4 |
| 16 | g.28903069G>T | CA395415480 | ATP2A1 | c.2784G>T (p.Trp928Cys) c.2409G>T (p.Trp803Cys) | |
| 16 | g.28903070G>A | CA395415482 | ATP2A1 | c.2785G>A (p.Val929Met) c.2410G>A (p.Val804Met) | COSMIC |
| 16 | g.28903070G>C | CA395415483 | ATP2A1 | c.2785G>C (p.Val929Leu) c.2410G>C (p.Val804Leu) | |
| 16 | g.28903070G>T | CA395415484 | ATP2A1 | c.2785G>T (p.Val929Leu) c.2410G>T (p.Val804Leu) | |
| 16 | g.28903071T>A | CA395415485 | ATP2A1 | c.2786T>A (p.Val929Glu) c.2411T>A (p.Val804Glu) | |
| 16 | g.28903071T>C | CA395415486 | ATP2A1 | c.2786T>C (p.Val929Ala) c.2411T>C (p.Val804Ala) | |
| 16 | g.28903071T>G | CA395415487 | ATP2A1 | c.2786T>G (p.Val929Gly) c.2411T>G (p.Val804Gly) | |
| 16 | g.28903072G>A | CA494874493 | ATP2A1 | c.2787G>A (p.Val929=) c.2412G>A (p.Val804=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.28903072G>C | CA494874492 | ATP2A1 | c.2787G>C (p.Val929=) c.2412G>C (p.Val804=) | |
| 16 | g.28903072G= | CA2215889062 | ATP2A1 | c.2787G= (p.Val929=) c.2412G= (p.Val804=) | |
| 16 | g.28903072G>T | CA494874491 | ATP2A1 | c.2787G>T (p.Val929=) c.2412G>T (p.Val804=) | |
| 16 | g.28903073A>C | CA395415488 | ATP2A1 | c.2788A>C (p.Asn930His) c.2413A>C (p.Asn805His) | |
| 16 | g.28903073A>G | CA395415489 | ATP2A1 | c.2788A>G (p.Asn930Asp) c.2413A>G (p.Asn805Asp) | |
| 16 | g.28903073A>T | CA395415490 | ATP2A1 | c.2788A>T (p.Asn930Tyr) c.2413A>T (p.Asn805Tyr) | |
| 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) |