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 |
|---|---|---|---|---|---|
| 5 | g.56882195_56882197del | CA1548139498 | MAP3K1 | c.2995_2997del (p.Thr999del) c.2617_2619del (p.Thr873del) c.2740_2742del (p.Thr914del) c.2716_2718del (p.Thr906del) c.2584_2586del (p.Thr862del) c.2506_2508del (p.Thr836del) n.3026_3028del | dbSNP |
| 5 | g.56882196C>A | CA359787429 | MAP3K1 | c.2996C>A (p.Thr999Lys) c.2618C>A (p.Thr873Lys) c.2741C>A (p.Thr914Lys) c.2717C>A (p.Thr906Lys) c.2585C>A (p.Thr862Lys) c.2507C>A (p.Thr836Lys) n.3027C>A | dbSNP gnomAD v4 |
| 5 | g.56882196C>G | CA359787430 | MAP3K1 | c.2996C>G (p.Thr999Arg) c.2618C>G (p.Thr873Arg) c.2741C>G (p.Thr914Arg) c.2717C>G (p.Thr906Arg) c.2585C>G (p.Thr862Arg) c.2507C>G (p.Thr836Arg) n.3027C>G | |
| 5 | g.56882196C>T | CA359787431 | MAP3K1 | c.2996C>T (p.Thr999Ile) c.2618C>T (p.Thr873Ile) c.2741C>T (p.Thr914Ile) c.2717C>T (p.Thr906Ile) c.2585C>T (p.Thr862Ile) c.2507C>T (p.Thr836Ile) n.3027C>T | dbSNP gnomAD v4 |
| 5 | g.56882197A>C | CA444399444 | MAP3K1 | c.2997A>C (p.Thr999=) c.2619A>C (p.Thr873=) c.2742A>C (p.Thr914=) c.2718A>C (p.Thr906=) c.2586A>C (p.Thr862=) c.2508A>C (p.Thr836=) n.3028A>C | |
| 5 | g.56882197A>G | CA444399446 | MAP3K1 | c.2997A>G (p.Thr999=) c.2619A>G (p.Thr873=) c.2742A>G (p.Thr914=) c.2718A>G (p.Thr906=) c.2586A>G (p.Thr862=) c.2508A>G (p.Thr836=) n.3028A>G | |
| 5 | g.56882197A>T | CA444399447 | MAP3K1 | c.2997A>T (p.Thr999=) c.2619A>T (p.Thr873=) c.2742A>T (p.Thr914=) c.2718A>T (p.Thr906=) c.2586A>T (p.Thr862=) c.2508A>T (p.Thr836=) n.3028A>T | dbSNP |
| 5 | g.56882197_56882200del | CA645557022 | MAP3K1 | c.2997_3000del (p.Asp1000SerfsTer?) c.2619_2622del (p.Asp874SerfsTer?) c.2742_2745del (p.Asp915SerfsTer?) c.2718_2721del (p.Asp907SerfsTer?) c.2586_2589del (p.Asp863SerfsTer?) c.2508_2511del (p.Asp837SerfsTer?) n.3028_3031del | COSMIC |
| 5 | g.56882198G>A | CA359787432 | MAP3K1 | c.2998G>A (p.Asp1000Asn) c.2620G>A (p.Asp874Asn) c.2743G>A (p.Asp915Asn) c.2719G>A (p.Asp907Asn) c.2587G>A (p.Asp863Asn) c.2509G>A (p.Asp837Asn) n.3029G>A | dbSNP |
| 5 | g.56882198G>C | CA359787433 | MAP3K1 | c.2998G>C (p.Asp1000His) c.2620G>C (p.Asp874His) c.2743G>C (p.Asp915His) c.2719G>C (p.Asp907His) c.2587G>C (p.Asp863His) c.2509G>C (p.Asp837His) n.3029G>C | dbSNP |
| 5 | g.56882198G>T | CA359787434 | MAP3K1 | c.2998G>T (p.Asp1000Tyr) c.2620G>T (p.Asp874Tyr) c.2743G>T (p.Asp915Tyr) c.2719G>T (p.Asp907Tyr) c.2587G>T (p.Asp863Tyr) c.2509G>T (p.Asp837Tyr) n.3029G>T | dbSNP |
| 5 | g.56882199A>C | CA359787437 | MAP3K1 | c.2999A>C (p.Asp1000Ala) c.2621A>C (p.Asp874Ala) c.2744A>C (p.Asp915Ala) c.2720A>C (p.Asp907Ala) c.2588A>C (p.Asp863Ala) c.2510A>C (p.Asp837Ala) n.3030A>C | |
| 5 | g.56882199A>G | CA359787436 | MAP3K1 | c.2999A>G (p.Asp1000Gly) c.2621A>G (p.Asp874Gly) c.2744A>G (p.Asp915Gly) c.2720A>G (p.Asp907Gly) c.2588A>G (p.Asp863Gly) c.2510A>G (p.Asp837Gly) n.3030A>G | |
| 5 | g.56882199A>T | CA359787435 | MAP3K1 | c.2999A>T (p.Asp1000Val) c.2621A>T (p.Asp874Val) c.2744A>T (p.Asp915Val) c.2720A>T (p.Asp907Val) c.2588A>T (p.Asp863Val) c.2510A>T (p.Asp837Val) n.3030A>T | dbSNP |
| 5 | g.56882200T>A | CA359787438 | MAP3K1 | c.3000T>A (p.Asp1000Glu) c.2622T>A (p.Asp874Glu) c.2745T>A (p.Asp915Glu) c.2721T>A (p.Asp907Glu) c.2589T>A (p.Asp863Glu) c.2511T>A (p.Asp837Glu) n.3031T>A | dbSNP |
| 5 | g.56882200T>C | CA3273099 | MAP3K1 | c.3000T>C (p.Asp1000=) c.2622T>C (p.Asp874=) c.2745T>C (p.Asp915=) c.2721T>C (p.Asp907=) c.2589T>C (p.Asp863=) c.2511T>C (p.Asp837=) n.3031T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.56882200T>G | CA359787439 | MAP3K1 | c.3000T>G (p.Asp1000Glu) c.2622T>G (p.Asp874Glu) c.2745T>G (p.Asp915Glu) c.2721T>G (p.Asp907Glu) c.2589T>G (p.Asp863Glu) c.2511T>G (p.Asp837Glu) n.3031T>G | |
| 5 | g.56882200T= | CA1548139500 | MAP3K1 | c.3000T= (p.Asp1000=) c.2622T= (p.Asp874=) c.2745T= (p.Asp915=) c.2721T= (p.Asp907=) c.2589T= (p.Asp863=) c.2511T= (p.Asp837=) n.3031T= | |
| 5 | g.56882201G>A | CA119079931 | MAP3K1 | c.3001G>A (p.Val1001Ile) c.2623G>A (p.Val875Ile) c.2746G>A (p.Val916Ile) c.2722G>A (p.Val908Ile) c.2590G>A (p.Val864Ile) c.2512G>A (p.Val838Ile) n.3032G>A | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.56882201G>C | CA359787440 | MAP3K1 | c.3001G>C (p.Val1001Leu) c.2623G>C (p.Val875Leu) c.2746G>C (p.Val916Leu) c.2722G>C (p.Val908Leu) c.2590G>C (p.Val864Leu) c.2512G>C (p.Val838Leu) n.3032G>C | dbSNP gnomAD v4 |
| 5 | g.56882201G= | CA1548139501 | MAP3K1 | c.3001G= (p.Val1001=) c.2623G= (p.Val875=) c.2746G= (p.Val916=) c.2722G= (p.Val908=) c.2590G= (p.Val864=) c.2512G= (p.Val838=) n.3032G= | |
| 5 | g.56882201G>T | CA359787441 | MAP3K1 | c.3001G>T (p.Val1001Phe) c.2623G>T (p.Val875Phe) c.2746G>T (p.Val916Phe) c.2722G>T (p.Val908Phe) c.2590G>T (p.Val864Phe) c.2512G>T (p.Val838Phe) n.3032G>T | |
| 5 | g.56882202T>A | CA359787442 | MAP3K1 | c.3002T>A (p.Val1001Asp) c.2624T>A (p.Val875Asp) c.2747T>A (p.Val916Asp) c.2723T>A (p.Val908Asp) c.2591T>A (p.Val864Asp) c.2513T>A (p.Val838Asp) n.3033T>A | |
| 5 | g.56882202T>C | CA359787443 | MAP3K1 | c.3002T>C (p.Val1001Ala) c.2624T>C (p.Val875Ala) c.2747T>C (p.Val916Ala) c.2723T>C (p.Val908Ala) c.2591T>C (p.Val864Ala) c.2513T>C (p.Val838Ala) n.3033T>C | gnomAD v4 |
| 5 | g.56882202T>G | CA359787444 | MAP3K1 | c.3002T>G (p.Val1001Gly) c.2624T>G (p.Val875Gly) c.2747T>G (p.Val916Gly) c.2723T>G (p.Val908Gly) c.2591T>G (p.Val864Gly) c.2513T>G (p.Val838Gly) n.3033T>G | gnomAD v4 |
| 5 | g.56882203C>A | CA444399457 | MAP3K1 | c.3003C>A (p.Val1001=) c.2625C>A (p.Val875=) c.2748C>A (p.Val916=) c.2724C>A (p.Val908=) c.2592C>A (p.Val864=) c.2514C>A (p.Val838=) n.3034C>A | |
| 5 | g.56882203C>G | CA444399461 | MAP3K1 | c.3003C>G (p.Val1001=) c.2625C>G (p.Val875=) c.2748C>G (p.Val916=) c.2724C>G (p.Val908=) c.2592C>G (p.Val864=) c.2514C>G (p.Val838=) n.3034C>G | dbSNP |
| 5 | g.56882203C>T | CA444399463 | MAP3K1 | c.3003C>T (p.Val1001=) c.2625C>T (p.Val875=) c.2748C>T (p.Val916=) c.2724C>T (p.Val908=) c.2592C>T (p.Val864=) c.2514C>T (p.Val838=) n.3034C>T | dbSNP gnomAD v4 |
| 5 | g.56882204T>A | CA359787445 | MAP3K1 | c.3004T>A (p.Ser1002Thr) c.2626T>A (p.Ser876Thr) c.2749T>A (p.Ser917Thr) c.2725T>A (p.Ser909Thr) c.2593T>A (p.Ser865Thr) c.2515T>A (p.Ser839Thr) n.3035T>A | dbSNP |
| 5 | g.56882204T>C | CA359787446 | MAP3K1 | c.3004T>C (p.Ser1002Pro) c.2626T>C (p.Ser876Pro) c.2749T>C (p.Ser917Pro) c.2725T>C (p.Ser909Pro) c.2593T>C (p.Ser865Pro) c.2515T>C (p.Ser839Pro) n.3035T>C | |
| 5 | g.56882204T>G | CA359787447 | MAP3K1 | c.3004T>G (p.Ser1002Ala) c.2626T>G (p.Ser876Ala) c.2749T>G (p.Ser917Ala) c.2725T>G (p.Ser909Ala) c.2593T>G (p.Ser865Ala) c.2515T>G (p.Ser839Ala) n.3035T>G | |
| 5 | g.56882205C>A | CA359787450 | MAP3K1 | c.3005C>A (p.Ser1002Tyr) c.2627C>A (p.Ser876Tyr) c.2750C>A (p.Ser917Tyr) c.2726C>A (p.Ser909Tyr) c.2594C>A (p.Ser865Tyr) c.2516C>A (p.Ser839Tyr) n.3036C>A | |
| 5 | g.56882205C= | CA1548139502 | MAP3K1 | c.3005C= (p.Ser1002=) c.2627C= (p.Ser876=) c.2750C= (p.Ser917=) c.2726C= (p.Ser909=) c.2594C= (p.Ser865=) c.2516C= (p.Ser839=) n.3036C= | |
| 5 | g.56882205C>G | CA359787449 | MAP3K1 | c.3005C>G (p.Ser1002Cys) c.2627C>G (p.Ser876Cys) c.2750C>G (p.Ser917Cys) c.2726C>G (p.Ser909Cys) c.2594C>G (p.Ser865Cys) c.2516C>G (p.Ser839Cys) n.3036C>G | dbSNP |
| 5 | g.56882205C>T | CA359787448 | MAP3K1 | c.3005C>T (p.Ser1002Phe) c.2627C>T (p.Ser876Phe) c.2750C>T (p.Ser917Phe) c.2726C>T (p.Ser909Phe) c.2594C>T (p.Ser865Phe) c.2516C>T (p.Ser839Phe) n.3036C>T | dbSNP |
| 5 | g.56882206T>A | CA444399472 | MAP3K1 | c.3006T>A (p.Ser1002=) c.2628T>A (p.Ser876=) c.2751T>A (p.Ser917=) c.2727T>A (p.Ser909=) c.2595T>A (p.Ser865=) c.2517T>A (p.Ser839=) n.3037T>A | |
| 5 | g.56882206T>C | CA444399471 | MAP3K1 | c.3006T>C (p.Ser1002=) c.2628T>C (p.Ser876=) c.2751T>C (p.Ser917=) c.2727T>C (p.Ser909=) c.2595T>C (p.Ser865=) c.2517T>C (p.Ser839=) n.3037T>C | |
| 5 | g.56882206T>G | CA444399470 | MAP3K1 | c.3006T>G (p.Ser1002=) c.2628T>G (p.Ser876=) c.2751T>G (p.Ser917=) c.2727T>G (p.Ser909=) c.2595T>G (p.Ser865=) c.2517T>G (p.Ser839=) n.3037T>G | |
| 5 | g.56882206dup | CA645557023 | MAP3K1 | c.3006dup (p.Lys1003Ter) c.2628dup (p.Lys877Ter) c.2751dup (p.Lys918Ter) c.2727dup (p.Lys910Ter) c.2595dup (p.Lys866Ter) c.2517dup (p.Lys840Ter) n.3037dup | COSMIC |
| 5 | g.56882207A>C | CA359787451 | MAP3K1 | c.3007A>C (p.Lys1003Gln) c.2629A>C (p.Lys877Gln) c.2752A>C (p.Lys918Gln) c.2728A>C (p.Lys910Gln) c.2596A>C (p.Lys866Gln) c.2518A>C (p.Lys840Gln) n.3038A>C | |
| 5 | g.56882207A>G | CA359787453 | MAP3K1 | c.3007A>G (p.Lys1003Glu) c.2629A>G (p.Lys877Glu) c.2752A>G (p.Lys918Glu) c.2728A>G (p.Lys910Glu) c.2596A>G (p.Lys866Glu) c.2518A>G (p.Lys840Glu) n.3038A>G | |
| 5 | g.56882207A>T | CA359787452 | MAP3K1 | c.3007A>T (p.Lys1003Ter) c.2629A>T (p.Lys877Ter) c.2752A>T (p.Lys918Ter) c.2728A>T (p.Lys910Ter) c.2596A>T (p.Lys866Ter) c.2518A>T (p.Lys840Ter) n.3038A>T | |
| 5 | g.56882208del | CA2708987178 | MAP3K1 | c.3008del (p.Lys1003SerfsTer?) c.2630del (p.Lys877SerfsTer?) c.2753del (p.Lys918SerfsTer?) c.2729del (p.Lys910SerfsTer?) c.2597del (p.Lys866SerfsTer?) c.2519del (p.Lys840SerfsTer?) n.3039del | dbSNP |
| 5 | g.56882208A>C | CA359787454 | MAP3K1 | c.3008A>C (p.Lys1003Thr) c.2630A>C (p.Lys877Thr) c.2753A>C (p.Lys918Thr) c.2729A>C (p.Lys910Thr) c.2597A>C (p.Lys866Thr) c.2519A>C (p.Lys840Thr) n.3039A>C | |
| 5 | g.56882208A>G | CA359787455 | MAP3K1 | c.3008A>G (p.Lys1003Arg) c.2630A>G (p.Lys877Arg) c.2753A>G (p.Lys918Arg) c.2729A>G (p.Lys910Arg) c.2597A>G (p.Lys866Arg) c.2519A>G (p.Lys840Arg) n.3039A>G | gnomAD v4 |
| 5 | g.56882208A>T | CA359787456 | MAP3K1 | c.3008A>T (p.Lys1003Met) c.2630A>T (p.Lys877Met) c.2753A>T (p.Lys918Met) c.2729A>T (p.Lys910Met) c.2597A>T (p.Lys866Met) c.2519A>T (p.Lys840Met) n.3039A>T | dbSNP |
| 5 | g.56882209G>A | CA444399482 | MAP3K1 | c.3009G>A (p.Lys1003=) c.2631G>A (p.Lys877=) c.2754G>A (p.Lys918=) c.2730G>A (p.Lys910=) c.2598G>A (p.Lys866=) c.2520G>A (p.Lys840=) n.3040G>A | dbSNP |
| 5 | g.56882209G>C | CA359787457 | MAP3K1 | c.3009G>C (p.Lys1003Asn) c.2631G>C (p.Lys877Asn) c.2754G>C (p.Lys918Asn) c.2730G>C (p.Lys910Asn) c.2598G>C (p.Lys866Asn) c.2520G>C (p.Lys840Asn) n.3040G>C | dbSNP |
| 5 | g.56882209G>T | CA359787458 | MAP3K1 | c.3009G>T (p.Lys1003Asn) c.2631G>T (p.Lys877Asn) c.2754G>T (p.Lys918Asn) c.2730G>T (p.Lys910Asn) c.2598G>T (p.Lys866Asn) c.2520G>T (p.Lys840Asn) n.3040G>T | |
| 5 | g.56882210C>A | CA359787459 | MAP3K1 | c.3010C>A (p.His1004Asn) c.2632C>A (p.His878Asn) c.2755C>A (p.His919Asn) c.2731C>A (p.His911Asn) c.2599C>A (p.His867Asn) c.2521C>A (p.His841Asn) n.3041C>A | dbSNP |