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 |
|---|---|---|---|---|---|
| 1 | g.114684285G>A | CA341752617 | AMPD1 | c.449C>T (p.Ser150Leu) c.461C>T (p.Ser154Leu) c.464C>T (p.Ser155Leu) n.126C>T c.548C>T (p.Ser183Leu) n.335C>T c.560C>T (p.Ser187Leu) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 1 | g.114684285G>C | CA341752618 | AMPD1 | c.449C>G (p.Ser150Trp) c.461C>G (p.Ser154Trp) c.464C>G (p.Ser155Trp) n.126C>G c.548C>G (p.Ser183Trp) n.335C>G c.560C>G (p.Ser187Trp) | |
| 1 | g.114684285G= | CA1190281857 | AMPD1 | c.449C= (p.Ser150=) c.461C= (p.Ser154=) c.464C= (p.Ser155=) n.126C= c.548C= (p.Ser183=) n.335C= c.560C= (p.Ser187=) | |
| 1 | g.114684285G>T | CA341752619 | AMPD1 | c.449C>A (p.Ser150Ter) c.461C>A (p.Ser154Ter) c.464C>A (p.Ser155Ter) n.126C>A c.548C>A (p.Ser183Ter) n.335C>A c.560C>A (p.Ser187Ter) | gnomAD v4 |
| 1 | g.114684286A= | CA1190281860 | AMPD1 | c.448T= (p.Ser150=) c.460T= (p.Ser154=) c.463T= (p.Ser155=) n.125T= c.547T= (p.Ser183=) n.334T= c.559T= (p.Ser187=) | |
| 1 | g.114684286A>C | CA341752622 | AMPD1 | c.448T>G (p.Ser150Ala) c.460T>G (p.Ser154Ala) c.463T>G (p.Ser155Ala) n.125T>G c.547T>G (p.Ser183Ala) n.334T>G c.559T>G (p.Ser187Ala) | |
| 1 | g.114684286A>G | CA1020425 | AMPD1 | c.448T>C (p.Ser150Pro) c.460T>C (p.Ser154Pro) c.463T>C (p.Ser155Pro) n.125T>C c.547T>C (p.Ser183Pro) n.334T>C c.559T>C (p.Ser187Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.114684286A>T | CA341752623 | AMPD1 | c.448T>A (p.Ser150Thr) c.460T>A (p.Ser154Thr) c.463T>A (p.Ser155Thr) n.125T>A c.547T>A (p.Ser183Thr) n.334T>A c.559T>A (p.Ser187Thr) | |
| 1 | g.114684287C>A | CA341752625 | AMPD1 | c.447G>T (p.Lys149Asn) c.459G>T (p.Lys153Asn) c.462G>T (p.Lys154Asn) n.124G>T c.546G>T (p.Lys182Asn) n.333G>T c.558G>T (p.Lys186Asn) | |
| 1 | g.114684287C>G | CA341752626 | AMPD1 | c.447G>C (p.Lys149Asn) c.459G>C (p.Lys153Asn) c.462G>C (p.Lys154Asn) n.124G>C c.546G>C (p.Lys182Asn) n.333G>C c.558G>C (p.Lys186Asn) | COSMIC COSMIC |
| 1 | g.114684287C>T | CA419883511 | AMPD1 | c.447G>A (p.Lys149=) c.459G>A (p.Lys153=) c.462G>A (p.Lys154=) n.124G>A c.546G>A (p.Lys182=) n.333G>A c.558G>A (p.Lys186=) | |
| 1 | g.114684288T>A | CA341752628 | AMPD1 | c.446A>T (p.Lys149Met) c.458A>T (p.Lys153Met) c.461A>T (p.Lys154Met) n.123A>T c.545A>T (p.Lys182Met) n.332A>T c.557A>T (p.Lys186Met) | gnomAD v4 |
| 1 | g.114684288T>C | CA341752629 | AMPD1 | c.446A>G (p.Lys149Arg) c.458A>G (p.Lys153Arg) c.461A>G (p.Lys154Arg) n.123A>G c.545A>G (p.Lys182Arg) n.332A>G c.557A>G (p.Lys186Arg) | |
| 1 | g.114684288T>G | CA341752631 | AMPD1 | c.446A>C (p.Lys149Thr) c.458A>C (p.Lys153Thr) c.461A>C (p.Lys154Thr) n.123A>C c.545A>C (p.Lys182Thr) n.332A>C c.557A>C (p.Lys186Thr) | |
| 1 | g.114684289T>A | CA341752636 | AMPD1 | c.445A>T (p.Lys149Ter) c.457A>T (p.Lys153Ter) c.460A>T (p.Lys154Ter) n.122A>T c.544A>T (p.Lys182Ter) n.331A>T c.556A>T (p.Lys186Ter) | |
| 1 | g.114684289T>C | CA341752633 | AMPD1 | c.445A>G (p.Lys149Glu) c.457A>G (p.Lys153Glu) c.460A>G (p.Lys154Glu) n.122A>G c.544A>G (p.Lys182Glu) n.331A>G c.556A>G (p.Lys186Glu) | |
| 1 | g.114684289T>G | CA341752635 | AMPD1 | c.445A>C (p.Lys149Gln) c.457A>C (p.Lys153Gln) c.460A>C (p.Lys154Gln) n.122A>C c.544A>C (p.Lys182Gln) n.331A>C c.556A>C (p.Lys186Gln) | |
| 1 | g.114684290C>A | CA341752637 | AMPD1 | c.444G>T (p.Gln148His) c.456G>T (p.Gln152His) c.459G>T (p.Gln153His) n.121G>T c.543G>T (p.Gln181His) n.330G>T c.555G>T (p.Gln185His) | |
| 1 | g.114684290C= | CA1190281863 | AMPD1 | c.444G= (p.Gln148=) c.456G= (p.Gln152=) c.459G= (p.Gln153=) n.121G= c.543G= (p.Gln181=) n.330G= c.555G= (p.Gln185=) | |
| 1 | g.114684290C>G | CA341752638 | AMPD1 | c.444G>C (p.Gln148His) c.456G>C (p.Gln152His) c.459G>C (p.Gln153His) n.121G>C c.543G>C (p.Gln181His) n.330G>C c.555G>C (p.Gln185His) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.114684290C>T | CA419883512 | AMPD1 | c.444G>A (p.Gln148=) c.456G>A (p.Gln152=) c.459G>A (p.Gln153=) n.121G>A c.543G>A (p.Gln181=) n.330G>A c.555G>A (p.Gln185=) | |
| 1 | g.114684291T>A | CA341752639 | AMPD1 | c.443A>T (p.Gln148Leu) c.455A>T (p.Gln152Leu) c.458A>T (p.Gln153Leu) n.120A>T c.542A>T (p.Gln181Leu) n.329A>T c.554A>T (p.Gln185Leu) | |
| 1 | g.114684291T>C | CA341752640 | AMPD1 | c.443A>G (p.Gln148Arg) c.455A>G (p.Gln152Arg) c.458A>G (p.Gln153Arg) n.120A>G c.542A>G (p.Gln181Arg) n.329A>G c.554A>G (p.Gln185Arg) | |
| 1 | g.114684291T>G | CA341752641 | AMPD1 | c.443A>C (p.Gln148Pro) c.455A>C (p.Gln152Pro) c.458A>C (p.Gln153Pro) n.120A>C c.542A>C (p.Gln181Pro) n.329A>C c.554A>C (p.Gln185Pro) | |
| 1 | g.114684292G>A | CA341752642 | AMPD1 | c.442C>T (p.Gln148Ter) c.454C>T (p.Gln152Ter) c.457C>T (p.Gln153Ter) n.119C>T c.541C>T (p.Gln181Ter) n.328C>T c.553C>T (p.Gln185Ter) | |
| 1 | g.114684292G>C | CA341752643 | AMPD1 | c.442C>G (p.Gln148Glu) c.454C>G (p.Gln152Glu) c.457C>G (p.Gln153Glu) n.119C>G c.541C>G (p.Gln181Glu) n.328C>G c.553C>G (p.Gln185Glu) | |
| 1 | g.114684292G= | CA1190281865 | AMPD1 | c.442C= (p.Gln148=) c.454C= (p.Gln152=) c.457C= (p.Gln153=) n.119C= c.541C= (p.Gln181=) n.328C= c.553C= (p.Gln185=) | |
| 1 | g.114684292G>T | CA341752644 | AMPD1 | c.442C>A (p.Gln148Lys) c.454C>A (p.Gln152Lys) c.457C>A (p.Gln153Lys) n.119C>A c.541C>A (p.Gln181Lys) n.328C>A c.553C>A (p.Gln185Lys) | dbSNP gnomAD v2 |
| 1 | g.114684293C>A | CA341752646 | AMPD1 | c.441G>T (p.Met147Ile) c.453G>T (p.Met151Ile) c.456G>T (p.Met152Ile) n.118G>T c.540G>T (p.Met180Ile) n.327G>T c.552G>T (p.Met184Ile) | |
| 1 | g.114684293C>G | CA341752647 | AMPD1 | c.441G>C (p.Met147Ile) c.453G>C (p.Met151Ile) c.456G>C (p.Met152Ile) n.118G>C c.540G>C (p.Met180Ile) n.327G>C c.552G>C (p.Met184Ile) | |
| 1 | g.114684293C>T | CA341752649 | AMPD1 | c.441G>A (p.Met147Ile) c.453G>A (p.Met151Ile) c.456G>A (p.Met152Ile) n.118G>A c.540G>A (p.Met180Ile) n.327G>A c.552G>A (p.Met184Ile) | |
| 1 | g.114684294A= | CA1190281869 | AMPD1 | c.440T= (p.Met147=) c.452T= (p.Met151=) c.455T= (p.Met152=) n.117T= c.539T= (p.Met180=) n.326T= c.551T= (p.Met184=) | |
| 1 | g.114684294A>C | CA341752652 | AMPD1 | c.440T>G (p.Met147Arg) c.452T>G (p.Met151Arg) c.455T>G (p.Met152Arg) n.117T>G c.539T>G (p.Met180Arg) n.326T>G c.551T>G (p.Met184Arg) | gnomAD v4 |
| 1 | g.114684294A>G | CA341752654 | AMPD1 | c.440T>C (p.Met147Thr) c.452T>C (p.Met151Thr) c.455T>C (p.Met152Thr) n.117T>C c.539T>C (p.Met180Thr) n.326T>C c.551T>C (p.Met184Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.114684294A>T | CA341752651 | AMPD1 | c.440T>A (p.Met147Lys) c.452T>A (p.Met151Lys) c.455T>A (p.Met152Lys) n.117T>A c.539T>A (p.Met180Lys) n.326T>A c.551T>A (p.Met184Lys) | |
| 1 | g.114684295T>A | CA1020426 | AMPD1 | c.439A>T (p.Met147Leu) c.451A>T (p.Met151Leu) c.454A>T (p.Met152Leu) n.116A>T c.538A>T (p.Met180Leu) n.325A>T c.550A>T (p.Met184Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.114684295T>C | CA341752656 | AMPD1 | c.439A>G (p.Met147Val) c.451A>G (p.Met151Val) c.454A>G (p.Met152Val) n.116A>G c.538A>G (p.Met180Val) n.325A>G c.550A>G (p.Met184Val) | gnomAD v4 |
| 1 | g.114684295T>G | CA341752657 | AMPD1 | c.439A>C (p.Met147Leu) c.451A>C (p.Met151Leu) c.454A>C (p.Met152Leu) n.116A>C c.538A>C (p.Met180Leu) n.325A>C c.550A>C (p.Met184Leu) | |
| 1 | g.114684295T= | CA1143782254 | AMPD1 | c.439A= (p.Met147=) c.451A= (p.Met151=) c.454A= (p.Met152=) n.116A= c.538A= (p.Met180=) n.325A= c.550A= (p.Met184=) | |
| 1 | g.114684296G>A | CA419883513 | AMPD1 | c.438C>T (p.Tyr146=) c.450C>T (p.Tyr150=) c.453C>T (p.Tyr151=) n.115C>T c.537C>T (p.Tyr179=) n.324C>T c.549C>T (p.Tyr183=) | |
| 1 | g.114684296G>C | CA341752660 | AMPD1 | c.438C>G (p.Tyr146Ter) c.450C>G (p.Tyr150Ter) c.453C>G (p.Tyr151Ter) n.115C>G c.537C>G (p.Tyr179Ter) n.324C>G c.549C>G (p.Tyr183Ter) | |
| 1 | g.114684296G>T | CA341752661 | AMPD1 | c.438C>A (p.Tyr146Ter) c.450C>A (p.Tyr150Ter) c.453C>A (p.Tyr151Ter) n.115C>A c.537C>A (p.Tyr179Ter) n.324C>A c.549C>A (p.Tyr183Ter) | |
| 1 | g.114684297T>A | CA341752663 | AMPD1 | c.437A>T (p.Tyr146Phe) c.449A>T (p.Tyr150Phe) c.452A>T (p.Tyr151Phe) n.114A>T c.536A>T (p.Tyr179Phe) n.323A>T c.548A>T (p.Tyr183Phe) | |
| 1 | g.114684297T>C | CA341752664 | AMPD1 | c.437A>G (p.Tyr146Cys) c.449A>G (p.Tyr150Cys) c.452A>G (p.Tyr151Cys) n.114A>G c.536A>G (p.Tyr179Cys) n.323A>G c.548A>G (p.Tyr183Cys) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.114684297T>G | CA341752666 | AMPD1 | c.437A>C (p.Tyr146Ser) c.449A>C (p.Tyr150Ser) c.452A>C (p.Tyr151Ser) n.114A>C c.536A>C (p.Tyr179Ser) n.323A>C c.548A>C (p.Tyr183Ser) | |
| 1 | g.114684297T= | CA1190281872 | AMPD1 | c.437A= (p.Tyr146=) c.449A= (p.Tyr150=) c.452A= (p.Tyr151=) n.114A= c.536A= (p.Tyr179=) n.323A= c.548A= (p.Tyr183=) | |
| 1 | g.114684298A= | CA1190281877 | AMPD1 | c.436T= (p.Tyr146=) c.448T= (p.Tyr150=) c.451T= (p.Tyr151=) n.113T= c.535T= (p.Tyr179=) n.322T= c.547T= (p.Tyr183=) | |
| 1 | g.114684298A>C | CA341752668 | AMPD1 | c.436T>G (p.Tyr146Asp) c.448T>G (p.Tyr150Asp) c.451T>G (p.Tyr151Asp) n.113T>G c.535T>G (p.Tyr179Asp) n.322T>G c.547T>G (p.Tyr183Asp) | |
| 1 | g.114684298A>G | CA341752669 | AMPD1 | c.436T>C (p.Tyr146His) c.448T>C (p.Tyr150His) c.451T>C (p.Tyr151His) n.113T>C c.535T>C (p.Tyr179His) n.322T>C c.547T>C (p.Tyr183His) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.114684298A>T | CA341752671 | AMPD1 | c.436T>A (p.Tyr146Asn) c.448T>A (p.Tyr150Asn) c.451T>A (p.Tyr151Asn) n.113T>A c.535T>A (p.Tyr179Asn) n.322T>A c.547T>A (p.Tyr183Asn) |