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 |
|---|---|---|---|---|---|
| 7 | g.116763110C>A | CA368983121 | MET | c.2425C>A (p.Leu809Met) c.*30C>A (n.*30C>A) c.2479C>A (p.Leu827Met) c.265C>A (p.Leu89Met) c.1135C>A (p.Leu379Met) c.2482C>A (p.Leu828Met) n.2556C>A | |
| 7 | g.116763110C>G | CA368983123 | MET | c.2425C>G (p.Leu809Val) c.*30C>G (n.*30C>G) c.2479C>G (p.Leu827Val) c.265C>G (p.Leu89Val) c.1135C>G (p.Leu379Val) c.2482C>G (p.Leu828Val) n.2556C>G | dbSNP |
| 7 | g.116763110C>T | CA457441669 | MET | c.2425C>T (p.Leu809=) c.*30C>T (n.*30C>T) c.2479C>T (p.Leu827=) c.265C>T (p.Leu89=) c.1135C>T (p.Leu379=) c.2482C>T (p.Leu828=) n.2556C>T | dbSNP |
| 7 | g.116763111T>A | CA368983126 | MET | c.2426T>A (p.Leu809Gln) c.*31T>A (n.*31T>A) c.2480T>A (p.Leu827Gln) c.266T>A (p.Leu89Gln) c.1136T>A (p.Leu379Gln) c.2483T>A (p.Leu828Gln) n.2557T>A | dbSNP |
| 7 | g.116763111T>C | CA368983129 | MET | c.2426T>C (p.Leu809Pro) c.*31T>C (n.*31T>C) c.2480T>C (p.Leu827Pro) c.266T>C (p.Leu89Pro) c.1136T>C (p.Leu379Pro) c.2483T>C (p.Leu828Pro) n.2557T>C | ClinVar dbSNP |
| 7 | g.116763111T>G | CA368983134 | MET | c.2426T>G (p.Leu809Arg) c.*31T>G (n.*31T>G) c.2480T>G (p.Leu827Arg) c.266T>G (p.Leu89Arg) c.1136T>G (p.Leu379Arg) c.2483T>G (p.Leu828Arg) n.2557T>G | |
| 7 | g.116763112G>A | CA457441670 | MET | c.2427G>A (p.Leu809=) c.*32G>A (n.*32G>A) c.2481G>A (p.Leu827=) c.267G>A (p.Leu89=) c.1137G>A (p.Leu379=) c.2484G>A (p.Leu828=) n.2558G>A | ClinVar dbSNP |
| 7 | g.116763112G>C | CA457441671 | MET | c.2427G>C (p.Leu809=) c.*32G>C (n.*32G>C) c.2481G>C (p.Leu827=) c.267G>C (p.Leu89=) c.1137G>C (p.Leu379=) c.2484G>C (p.Leu828=) n.2558G>C | dbSNP gnomAD v4 |
| 7 | g.116763112G= | CA1737029450 | MET | c.2427G= (p.Leu809=) c.*32G= (n.*32G=) c.2481G= (p.Leu827=) c.267G= (p.Leu89=) c.1137G= (p.Leu379=) c.2484G= (p.Leu828=) n.2558G= | |
| 7 | g.116763112G>T | CA457441672 | MET | c.2427G>T (p.Leu809=) c.*32G>T (n.*32G>T) c.2481G>T (p.Leu827=) c.267G>T (p.Leu89=) c.1137G>T (p.Leu379=) c.2484G>T (p.Leu828=) n.2558G>T | dbSNP |
| 7 | g.116763113A>C | CA368983137 | MET | c.2428A>C (p.Asn810His) c.*33A>C (n.*33A>C) c.2482A>C (p.Asn828His) c.268A>C (p.Asn90His) c.1138A>C (p.Asn380His) c.2485A>C (p.Asn829His) n.2559A>C | |
| 7 | g.116763113A>G | CA368983139 | MET | c.2428A>G (p.Asn810Asp) c.*33A>G (n.*33A>G) c.2482A>G (p.Asn828Asp) c.268A>G (p.Asn90Asp) c.1138A>G (p.Asn380Asp) c.2485A>G (p.Asn829Asp) n.2559A>G | ClinVar |
| 7 | g.116763113A>T | CA368983141 | MET | c.2428A>T (p.Asn810Tyr) c.*33A>T (n.*33A>T) c.2482A>T (p.Asn828Tyr) c.268A>T (p.Asn90Tyr) c.1138A>T (p.Asn380Tyr) c.2485A>T (p.Asn829Tyr) n.2559A>T | dbSNP |
| 7 | g.116763114A>C | CA368983144 | MET | c.2429A>C (p.Asn810Thr) c.*34A>C (n.*34A>C) c.2483A>C (p.Asn828Thr) c.269A>C (p.Asn90Thr) c.1139A>C (p.Asn380Thr) c.2486A>C (p.Asn829Thr) n.2560A>C | |
| 7 | g.116763114A>G | CA368983146 | MET | c.2429A>G (p.Asn810Ser) c.*34A>G (n.*34A>G) c.2483A>G (p.Asn828Ser) c.269A>G (p.Asn90Ser) c.1139A>G (p.Asn380Ser) c.2486A>G (p.Asn829Ser) n.2560A>G | |
| 7 | g.116763114A>T | CA368983149 | MET | c.2429A>T (p.Asn810Ile) c.*34A>T (n.*34A>T) c.2483A>T (p.Asn828Ile) c.269A>T (p.Asn90Ile) c.1139A>T (p.Asn380Ile) c.2486A>T (p.Asn829Ile) n.2560A>T | dbSNP |
| 7 | g.116763115T>A | CA368983152 | MET | c.2430T>A (p.Asn810Lys) c.*35T>A (n.*35T>A) c.2484T>A (p.Asn828Lys) c.270T>A (p.Asn90Lys) c.1140T>A (p.Asn380Lys) c.2487T>A (p.Asn829Lys) n.2561T>A | ClinVar dbSNP |
| 7 | g.116763115T>C | CA457441673 | MET | c.2430T>C (p.Asn810=) c.*35T>C (n.*35T>C) c.2484T>C (p.Asn828=) c.270T>C (p.Asn90=) c.1140T>C (p.Asn380=) c.2487T>C (p.Asn829=) n.2561T>C | dbSNP |
| 7 | g.116763115T>G | CA368983155 | MET | c.2430T>G (p.Asn810Lys) c.*35T>G (n.*35T>G) c.2484T>G (p.Asn828Lys) c.270T>G (p.Asn90Lys) c.1140T>G (p.Asn380Lys) c.2487T>G (p.Asn829Lys) n.2561T>G | |
| 7 | g.116763115T= | CA1737029453 | MET | c.2430T= (p.Asn810=) c.*35T= (n.*35T=) c.2484T= (p.Asn828=) c.270T= (p.Asn90=) c.1140T= (p.Asn380=) c.2487T= (p.Asn829=) n.2561T= | |
| 7 | g.116763116C>A | CA368983158 | MET | c.2431C>A (p.Leu811Met) c.*36C>A (n.*36C>A) c.2485C>A (p.Leu829Met) c.271C>A (p.Leu91Met) c.1141C>A (p.Leu381Met) c.2488C>A (p.Leu830Met) n.2562C>A | ClinVar dbSNP |
| 7 | g.116763116C= | CA1737029456 | MET | c.2431C= (p.Leu811=) c.*36C= (n.*36C=) c.2485C= (p.Leu829=) c.271C= (p.Leu91=) c.1141C= (p.Leu381=) c.2488C= (p.Leu830=) n.2562C= | |
| 7 | g.116763116C>G | CA368983159 | MET | c.2431C>G (p.Leu811Val) c.*36C>G (n.*36C>G) c.2485C>G (p.Leu829Val) c.271C>G (p.Leu91Val) c.1141C>G (p.Leu381Val) c.2488C>G (p.Leu830Val) n.2562C>G | dbSNP |
| 7 | g.116763116C>T | CA457441674 | MET | c.2431C>T (p.Leu811=) c.*36C>T (n.*36C>T) c.2485C>T (p.Leu829=) c.271C>T (p.Leu91=) c.1141C>T (p.Leu381=) c.2488C>T (p.Leu830=) n.2562C>T | ClinVar dbSNP |
| 7 | g.116763117T>A | CA368983162 | MET | c.2432T>A (p.Leu811Gln) c.*37T>A (n.*37T>A) c.2486T>A (p.Leu829Gln) c.272T>A (p.Leu91Gln) c.1142T>A (p.Leu381Gln) c.2489T>A (p.Leu830Gln) n.2563T>A | ClinVar dbSNP gnomAD v4 |
| 7 | g.116763117T>C | CA368983165 | MET | c.2432T>C (p.Leu811Pro) c.*37T>C (n.*37T>C) c.2486T>C (p.Leu829Pro) c.272T>C (p.Leu91Pro) c.1142T>C (p.Leu381Pro) c.2489T>C (p.Leu830Pro) n.2563T>C | ClinVar dbSNP |
| 7 | g.116763117T>G | CA368983163 | MET | c.2432T>G (p.Leu811Arg) c.*37T>G (n.*37T>G) c.2486T>G (p.Leu829Arg) c.272T>G (p.Leu91Arg) c.1142T>G (p.Leu381Arg) c.2489T>G (p.Leu830Arg) n.2563T>G | |
| 7 | g.116763117T= | CA1737029464 | MET | c.2432T= (p.Leu811=) c.*37T= (n.*37T=) c.2486T= (p.Leu829=) c.272T= (p.Leu91=) c.1142T= (p.Leu381=) c.2489T= (p.Leu830=) n.2563T= | |
| 7 | g.116763118G>A | CA457441675 | MET | c.2433G>A (p.Leu811=) c.*38G>A (n.*38G>A) c.2487G>A (p.Leu829=) c.273G>A (p.Leu91=) c.1143G>A (p.Leu381=) c.2490G>A (p.Leu830=) n.2564G>A | dbSNP gnomAD v4 |
| 7 | g.116763118G>C | CA457441676 | MET | c.2433G>C (p.Leu811=) c.*38G>C (n.*38G>C) c.2487G>C (p.Leu829=) c.273G>C (p.Leu91=) c.1143G>C (p.Leu381=) c.2490G>C (p.Leu830=) n.2564G>C | dbSNP |
| 7 | g.116763118G>T | CA457441677 | MET | c.2433G>T (p.Leu811=) c.*38G>T (n.*38G>T) c.2487G>T (p.Leu829=) c.273G>T (p.Leu91=) c.1143G>T (p.Leu381=) c.2490G>T (p.Leu830=) n.2564G>T | |
| 7 | g.116763119C>A | CA368983168 | MET | c.2434C>A (p.Gln812Lys) c.*39C>A (n.*39C>A) c.2488C>A (p.Gln830Lys) c.274C>A (p.Gln92Lys) c.1144C>A (p.Gln382Lys) c.2491C>A (p.Gln831Lys) n.2565C>A | |
| 7 | g.116763119C= | CA1737029475 | MET | c.2434C= (p.Gln812=) c.*39C= (n.*39C=) c.2488C= (p.Gln830=) c.274C= (p.Gln92=) c.1144C= (p.Gln382=) c.2491C= (p.Gln831=) n.2565C= | |
| 7 | g.116763119C>G | CA221500 | MET | c.2434C>G (p.Gln812Glu) c.*39C>G (n.*39C>G) c.2488C>G (p.Gln830Glu) c.274C>G (p.Gln92Glu) c.1144C>G (p.Gln382Glu) c.2491C>G (p.Gln831Glu) n.2565C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.116763119C>T | CA368983171 | MET | c.2434C>T (p.Gln812Ter) c.*39C>T (n.*39C>T) c.2488C>T (p.Gln830Ter) c.274C>T (p.Gln92Ter) c.1144C>T (p.Gln382Ter) c.2491C>T (p.Gln831Ter) n.2565C>T | dbSNP |
| 7 | g.116763120A= | CA1737029482 | MET | c.2435A= (p.Gln812=) c.*40A= (n.*40A=) c.2489A= (p.Gln830=) c.275A= (p.Gln92=) c.1145A= (p.Gln382=) c.2492A= (p.Gln831=) n.2566A= | |
| 7 | g.116763120A>C | CA4448487 | MET | c.2435A>C (p.Gln812Pro) c.*40A>C (n.*40A>C) c.2489A>C (p.Gln830Pro) c.275A>C (p.Gln92Pro) c.1145A>C (p.Gln382Pro) c.2492A>C (p.Gln831Pro) n.2566A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.116763120A>G | CA368983174 | MET | c.2435A>G (p.Gln812Arg) c.*40A>G (n.*40A>G) c.2489A>G (p.Gln830Arg) c.275A>G (p.Gln92Arg) c.1145A>G (p.Gln382Arg) c.2492A>G (p.Gln831Arg) n.2566A>G | COSMIC |
| 7 | g.116763120A>T | CA368983177 | MET | c.2435A>T (p.Gln812Leu) c.*40A>T (n.*40A>T) c.2489A>T (p.Gln830Leu) c.275A>T (p.Gln92Leu) c.1145A>T (p.Gln382Leu) c.2492A>T (p.Gln831Leu) n.2566A>T | ClinVar dbSNP |
| 7 | g.116763121A>C | CA368983180 | MET | c.2436A>C (p.Gln812His) c.*41A>C (n.*41A>C) c.2490A>C (p.Gln830His) c.276A>C (p.Gln92His) c.1146A>C (p.Gln382His) c.2493A>C (p.Gln831His) n.2567A>C | |
| 7 | g.116763121A>G | CA457441068 | MET | c.2436A>G (p.Gln812=) c.*41A>G (n.*41A>G) c.2490A>G (p.Gln830=) c.276A>G (p.Gln92=) c.1146A>G (p.Gln382=) c.2493A>G (p.Gln831=) n.2567A>G | |
| 7 | g.116763121A>T | CA368983182 | MET | c.2436A>T (p.Gln812His) c.*41A>T (n.*41A>T) c.2490A>T (p.Gln830His) c.276A>T (p.Gln92His) c.1146A>T (p.Gln382His) c.2493A>T (p.Gln831His) n.2567A>T | |
| 7 | g.116763122C>A | CA4448488 | MET | c.2437C>A (p.Leu813Ile) c.*42C>A (n.*42C>A) c.2491C>A (p.Leu831Ile) c.277C>A (p.Leu93Ile) c.1147C>A (p.Leu383Ile) c.2494C>A (p.Leu832Ile) n.2568C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.116763122C= | CA1737029491 | MET | c.2437C= (p.Leu813=) c.*42C= (n.*42C=) c.2491C= (p.Leu831=) c.277C= (p.Leu93=) c.1147C= (p.Leu383=) c.2494C= (p.Leu832=) n.2568C= | |
| 7 | g.116763122C>G | CA368983187 | MET | c.2437C>G (p.Leu813Val) c.*42C>G (n.*42C>G) c.2491C>G (p.Leu831Val) c.277C>G (p.Leu93Val) c.1147C>G (p.Leu383Val) c.2494C>G (p.Leu832Val) n.2568C>G | ClinVar dbSNP |
| 7 | g.116763122C>T | CA368983188 | MET | c.2437C>T (p.Leu813Phe) c.*42C>T (n.*42C>T) c.2491C>T (p.Leu831Phe) c.277C>T (p.Leu93Phe) c.1147C>T (p.Leu383Phe) c.2494C>T (p.Leu832Phe) n.2568C>T | ClinVar dbSNP COSMIC |
| 7 | g.116763123T>A | CA368983196 | MET | c.2438T>A (p.Leu813His) c.*43T>A (n.*43T>A) c.2492T>A (p.Leu831His) c.278T>A (p.Leu93His) c.1148T>A (p.Leu383His) c.2495T>A (p.Leu832His) n.2569T>A | |
| 7 | g.116763123T>C | CA368983193 | MET | c.2438T>C (p.Leu813Pro) c.*43T>C (n.*43T>C) c.2492T>C (p.Leu831Pro) c.278T>C (p.Leu93Pro) c.1148T>C (p.Leu383Pro) c.2495T>C (p.Leu832Pro) n.2569T>C | COSMIC |
| 7 | g.116763123T>G | CA368983190 | MET | c.2438T>G (p.Leu813Arg) c.*43T>G (n.*43T>G) c.2492T>G (p.Leu831Arg) c.278T>G (p.Leu93Arg) c.1148T>G (p.Leu383Arg) c.2495T>G (p.Leu832Arg) n.2569T>G | |
| 7 | g.116763123_116763124insTTATAATTTACCA | CA2529053972 | MET | c.2438_2439insTTATAATTTACCA (p.Pro814TyrfsTer23) c.*43_*44insTTATAATTTACCA (n.*43_*44insTTATAATTTACCA) c.2492_2493insTTATAATTTACCA (p.Pro832TyrfsTer23) c.278_279insTTATAATTTACCA (p.Pro94TyrfsTer23) c.1148_1149insTTATAATTTACCA (p.Pro384TyrfsTer23) c.2495_2496insTTATAATTTACCA (p.Pro833TyrfsTer23) n.2569_2570insTTATAATTTACCA |