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.41984995T>A | CA406052468 | ATP1A3 | c.955A>T (p.Thr319Ser) c.916A>T (p.Thr306Ser) n.229A>T c.949A>T (p.Thr317Ser) c.826A>T (p.Thr276Ser) | |
| 19 | g.41984995T>C | CA406052469 | ATP1A3 | c.955A>G (p.Thr319Ala) c.916A>G (p.Thr306Ala) n.229A>G c.949A>G (p.Thr317Ala) c.826A>G (p.Thr276Ala) | |
| 19 | g.41984995T>G | CA406052472 | ATP1A3 | c.955A>C (p.Thr319Pro) c.916A>C (p.Thr306Pro) n.229A>C c.949A>C (p.Thr317Pro) c.826A>C (p.Thr276Pro) | |
| 19 | g.41984996G>A | CA9467762 | ATP1A3 | c.954C>T (p.Tyr318=) c.915C>T (p.Tyr305=) n.228C>T c.948C>T (p.Tyr316=) c.825C>T (p.Tyr275=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41984996G>C | CA406052476 | ATP1A3 | c.954C>G (p.Tyr318Ter) c.915C>G (p.Tyr305Ter) n.228C>G c.948C>G (p.Tyr316Ter) c.825C>G (p.Tyr275Ter) | |
| 19 | g.41984996G= | CA2336727995 | ATP1A3 | c.954C= (p.Tyr318=) c.915C= (p.Tyr305=) n.228C= c.948C= (p.Tyr316=) c.825C= (p.Tyr275=) | |
| 19 | g.41984996G>T | CA406052478 | ATP1A3 | c.954C>A (p.Tyr318Ter) c.915C>A (p.Tyr305Ter) n.228C>A c.948C>A (p.Tyr316Ter) c.825C>A (p.Tyr275Ter) | |
| 19 | g.41984997T>A | CA406052481 | ATP1A3 | c.953A>T (p.Tyr318Phe) c.914A>T (p.Tyr305Phe) n.227A>T c.947A>T (p.Tyr316Phe) c.824A>T (p.Tyr275Phe) | |
| 19 | g.41984997T>C | CA406052484 | ATP1A3 | c.953A>G (p.Tyr318Cys) c.914A>G (p.Tyr305Cys) n.227A>G c.947A>G (p.Tyr316Cys) c.824A>G (p.Tyr275Cys) | |
| 19 | g.41984997T>G | CA406052487 | ATP1A3 | c.953A>C (p.Tyr318Ser) c.914A>C (p.Tyr305Ser) n.227A>C c.947A>C (p.Tyr316Ser) c.824A>C (p.Tyr275Ser) | |
| 19 | g.41984998A>C | CA406052488 | ATP1A3 | c.952T>G (p.Tyr318Asp) c.913T>G (p.Tyr305Asp) n.226T>G c.946T>G (p.Tyr316Asp) c.823T>G (p.Tyr275Asp) | |
| 19 | g.41984998A>G | CA406052490 | ATP1A3 | c.952T>C (p.Tyr318His) c.913T>C (p.Tyr305His) n.226T>C c.946T>C (p.Tyr316His) c.823T>C (p.Tyr275His) | |
| 19 | g.41984998A>T | CA406052493 | ATP1A3 | c.952T>A (p.Tyr318Asn) c.913T>A (p.Tyr305Asn) n.226T>A c.946T>A (p.Tyr316Asn) c.823T>A (p.Tyr275Asn) | |
| 19 | g.41984999T>A | CA507695415 | ATP1A3 | c.951A>T (p.Gly317=) c.912A>T (p.Gly304=) n.225A>T c.945A>T (p.Gly315=) c.822A>T (p.Gly274=) | |
| 19 | g.41984999T>C | CA507695417 | ATP1A3 | c.951A>G (p.Gly317=) c.912A>G (p.Gly304=) n.225A>G c.945A>G (p.Gly315=) c.822A>G (p.Gly274=) | |
| 19 | g.41984999T>G | CA507695416 | ATP1A3 | c.951A>C (p.Gly317=) c.912A>C (p.Gly304=) n.225A>C c.945A>C (p.Gly315=) c.822A>C (p.Gly274=) | |
| 19 | g.41985000C>A | CA406052499 | ATP1A3 | c.950G>T (p.Gly317Val) c.911G>T (p.Gly304Val) n.224G>T c.944G>T (p.Gly315Val) c.821G>T (p.Gly274Val) | COSMIC |
| 19 | g.41985000C>G | CA406052494 | ATP1A3 | c.950G>C (p.Gly317Ala) c.911G>C (p.Gly304Ala) n.224G>C c.944G>C (p.Gly315Ala) c.821G>C (p.Gly274Ala) | |
| 19 | g.41985000C>T | CA406052496 | ATP1A3 | c.950G>A (p.Gly317Glu) c.911G>A (p.Gly304Glu) n.224G>A c.944G>A (p.Gly315Glu) c.821G>A (p.Gly274Glu) | |
| 19 | g.41985001C>A | CA406052502 | ATP1A3 | c.949G>T (p.Gly317Ter) c.910G>T (p.Gly304Ter) n.223G>T c.943G>T (p.Gly315Ter) c.820G>T (p.Gly274Ter) | |
| 19 | g.41985001C= | CA2336727996 | ATP1A3 | c.949G= (p.Gly317=) c.910G= (p.Gly304=) n.223G= c.943G= (p.Gly315=) c.820G= (p.Gly274=) | |
| 19 | g.41985001C>G | CA406052505 | ATP1A3 | c.949G>C (p.Gly317Arg) c.910G>C (p.Gly304Arg) n.223G>C c.943G>C (p.Gly315Arg) c.820G>C (p.Gly274Arg) | |
| 19 | g.41985001C>T | CA308597221 | ATP1A3 | c.949G>A (p.Gly317Arg) c.910G>A (p.Gly304Arg) n.223G>A c.943G>A (p.Gly315Arg) c.820G>A (p.Gly274Arg) | ClinVar dbSNP |
| 19 | g.41985002G>A | CA9467763 | ATP1A3 | c.948C>T (p.Leu316=) c.909C>T (p.Leu303=) n.222C>T c.942C>T (p.Leu314=) c.819C>T (p.Leu273=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41985002G>C | CA9467764 | ATP1A3 | c.948C>G (p.Leu316=) c.909C>G (p.Leu303=) n.222C>G c.942C>G (p.Leu314=) c.819C>G (p.Leu273=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41985002G= | CA2336727997 | ATP1A3 | c.948C= (p.Leu316=) c.909C= (p.Leu303=) n.222C= c.942C= (p.Leu314=) c.819C= (p.Leu273=) | |
| 19 | g.41985002G>T | CA507695418 | ATP1A3 | c.948C>A (p.Leu316=) c.909C>A (p.Leu303=) n.222C>A c.942C>A (p.Leu314=) c.819C>A (p.Leu273=) | |
| 19 | g.41985003A>C | CA406052509 | ATP1A3 | c.947T>G (p.Leu316Arg) c.908T>G (p.Leu303Arg) n.221T>G c.941T>G (p.Leu314Arg) c.818T>G (p.Leu273Arg) | |
| 19 | g.41985003A>G | CA406052511 | ATP1A3 | c.947T>C (p.Leu316Pro) c.908T>C (p.Leu303Pro) n.221T>C c.941T>C (p.Leu314Pro) c.818T>C (p.Leu273Pro) | |
| 19 | g.41985003A>T | CA406052513 | ATP1A3 | c.947T>A (p.Leu316His) c.908T>A (p.Leu303His) n.221T>A c.941T>A (p.Leu314His) c.818T>A (p.Leu273His) | |
| 19 | g.41985004G>A | CA406052515 | ATP1A3 | c.946C>T (p.Leu316Phe) c.907C>T (p.Leu303Phe) n.220C>T c.940C>T (p.Leu314Phe) c.817C>T (p.Leu273Phe) | |
| 19 | g.41985004G>C | CA406052518 | ATP1A3 | c.946C>G (p.Leu316Val) c.907C>G (p.Leu303Val) n.220C>G c.940C>G (p.Leu314Val) c.817C>G (p.Leu273Val) | |
| 19 | g.41985004G>T | CA406052520 | ATP1A3 | c.946C>A (p.Leu316Ile) c.907C>A (p.Leu303Ile) n.220C>A c.940C>A (p.Leu314Ile) c.817C>A (p.Leu273Ile) | ClinVar |
| 19 | g.41985005A>C | CA406052522 | ATP1A3 | c.945T>G (p.Ile315Met) c.906T>G (p.Ile302Met) n.219T>G c.939T>G (p.Ile313Met) c.816T>G (p.Ile272Met) | |
| 19 | g.41985005A>G | CA507695419 | ATP1A3 | c.945T>C (p.Ile315=) c.906T>C (p.Ile302=) n.219T>C c.939T>C (p.Ile313=) c.816T>C (p.Ile272=) | |
| 19 | g.41985005A>T | CA507695420 | ATP1A3 | c.945T>A (p.Ile315=) c.906T>A (p.Ile302=) n.219T>A c.939T>A (p.Ile313=) c.816T>A (p.Ile272=) | |
| 19 | g.41985006A>C | CA406052529 | ATP1A3 | c.944T>G (p.Ile315Ser) c.905T>G (p.Ile302Ser) n.218T>G c.938T>G (p.Ile313Ser) c.815T>G (p.Ile272Ser) | |
| 19 | g.41985006A>G | CA406052530 | ATP1A3 | c.944T>C (p.Ile315Thr) c.905T>C (p.Ile302Thr) n.218T>C c.938T>C (p.Ile313Thr) c.815T>C (p.Ile272Thr) | |
| 19 | g.41985006A>T | CA406052525 | ATP1A3 | c.944T>A (p.Ile315Asn) c.905T>A (p.Ile302Asn) n.218T>A c.938T>A (p.Ile313Asn) c.815T>A (p.Ile272Asn) | |
| 19 | g.41985007T>A | CA406052534 | ATP1A3 | c.943A>T (p.Ile315Phe) c.904A>T (p.Ile302Phe) n.217A>T c.937A>T (p.Ile313Phe) c.814A>T (p.Ile272Phe) | |
| 19 | g.41985007T>C | CA9467765 | ATP1A3 | c.943A>G (p.Ile315Val) c.904A>G (p.Ile302Val) n.217A>G c.937A>G (p.Ile313Val) c.814A>G (p.Ile272Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41985007T>G | CA406052537 | ATP1A3 | c.943A>C (p.Ile315Leu) c.904A>C (p.Ile302Leu) n.217A>C c.937A>C (p.Ile313Leu) c.814A>C (p.Ile272Leu) | |
| 19 | g.41985007T= | CA2336727998 | ATP1A3 | c.943A= (p.Ile315=) c.904A= (p.Ile302=) n.217A= c.937A= (p.Ile313=) c.814A= (p.Ile272=) | |
| 19 | g.41985008G>A | CA507695421 | ATP1A3 | c.942C>T (p.Leu314=) c.903C>T (p.Leu301=) n.216C>T c.936C>T (p.Leu312=) c.813C>T (p.Leu271=) | gnomAD v4 |
| 19 | g.41985008G>C | CA507695422 | ATP1A3 | c.942C>G (p.Leu314=) c.903C>G (p.Leu301=) n.216C>G c.936C>G (p.Leu312=) c.813C>G (p.Leu271=) | |
| 19 | g.41985008G>T | CA507695423 | ATP1A3 | c.942C>A (p.Leu314=) c.903C>A (p.Leu301=) n.216C>A c.936C>A (p.Leu312=) c.813C>A (p.Leu271=) | |
| 19 | g.41985009A>C | CA406052541 | ATP1A3 | c.941T>G (p.Leu314Arg) c.902T>G (p.Leu301Arg) n.215T>G c.935T>G (p.Leu312Arg) c.812T>G (p.Leu271Arg) | ClinVar |
| 19 | g.41985009A>G | CA406052546 | ATP1A3 | c.941T>C (p.Leu314Pro) c.902T>C (p.Leu301Pro) n.215T>C c.935T>C (p.Leu312Pro) c.812T>C (p.Leu271Pro) | |
| 19 | g.41985009A>T | CA406052544 | ATP1A3 | c.941T>A (p.Leu314His) c.902T>A (p.Leu301His) n.215T>A c.935T>A (p.Leu312His) c.812T>A (p.Leu271His) | |
| 19 | g.41985010G>A | CA406052548 | ATP1A3 | c.940C>T (p.Leu314Phe) c.901C>T (p.Leu301Phe) n.214C>T c.934C>T (p.Leu312Phe) c.811C>T (p.Leu271Phe) |