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.10324833A= | CA1153159801 | KIF1B | c.2475A= (p.Glu825=) c.2538A= (p.Glu846=) c.2613A= (p.Glu871=) c.2571A= (p.Glu857=) c.2535A= (p.Glu845=) | |
| 1 | g.10324833A>C | CA581569 | KIF1B | c.2475A>C (p.Glu825Asp) c.2538A>C (p.Glu846Asp) c.2613A>C (p.Glu871Asp) c.2571A>C (p.Glu857Asp) c.2535A>C (p.Glu845Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10324833A>G | CA415881675 | KIF1B | c.2475A>G (p.Glu825=) c.2538A>G (p.Glu846=) c.2613A>G (p.Glu871=) c.2571A>G (p.Glu857=) c.2535A>G (p.Glu845=) | gnomAD v4 |
| 1 | g.10324833A>T | CA338335690 | KIF1B | c.2475A>T (p.Glu825Asp) c.2538A>T (p.Glu846Asp) c.2613A>T (p.Glu871Asp) c.2571A>T (p.Glu857Asp) c.2535A>T (p.Glu845Asp) | |
| 1 | g.10324834A>C | CA338335691 | KIF1B | c.2476A>C (p.Thr826Pro) c.2539A>C (p.Thr847Pro) c.2614A>C (p.Thr872Pro) c.2572A>C (p.Thr858Pro) c.2536A>C (p.Thr846Pro) | |
| 1 | g.10324834A>G | CA338335693 | KIF1B | c.2476A>G (p.Thr826Ala) c.2539A>G (p.Thr847Ala) c.2614A>G (p.Thr872Ala) c.2572A>G (p.Thr858Ala) c.2536A>G (p.Thr846Ala) | |
| 1 | g.10324834A>T | CA338335695 | KIF1B | c.2476A>T (p.Thr826Ser) c.2539A>T (p.Thr847Ser) c.2614A>T (p.Thr872Ser) c.2572A>T (p.Thr858Ser) c.2536A>T (p.Thr846Ser) | |
| 1 | g.10324835C>A | CA338335696 | KIF1B | c.2477C>A (p.Thr826Asn) c.2540C>A (p.Thr847Asn) c.2615C>A (p.Thr872Asn) c.2573C>A (p.Thr858Asn) c.2537C>A (p.Thr846Asn) | |
| 1 | g.10324835C>G | CA338335697 | KIF1B | c.2477C>G (p.Thr826Ser) c.2540C>G (p.Thr847Ser) c.2615C>G (p.Thr872Ser) c.2573C>G (p.Thr858Ser) c.2537C>G (p.Thr846Ser) | ClinVar |
| 1 | g.10324835C>T | CA338335699 | KIF1B | c.2477C>T (p.Thr826Ile) c.2540C>T (p.Thr847Ile) c.2615C>T (p.Thr872Ile) c.2573C>T (p.Thr858Ile) c.2537C>T (p.Thr846Ile) | gnomAD v4 |
| 1 | g.10324836C>A | CA415881676 | KIF1B | c.2478C>A (p.Thr826=) c.2541C>A (p.Thr847=) c.2616C>A (p.Thr872=) c.2574C>A (p.Thr858=) c.2538C>A (p.Thr846=) | |
| 1 | g.10324836C>G | CA415881677 | KIF1B | c.2478C>G (p.Thr826=) c.2541C>G (p.Thr847=) c.2616C>G (p.Thr872=) c.2574C>G (p.Thr858=) c.2538C>G (p.Thr846=) | |
| 1 | g.10324836C>T | CA415881678 | KIF1B | c.2478C>T (p.Thr826=) c.2541C>T (p.Thr847=) c.2616C>T (p.Thr872=) c.2574C>T (p.Thr858=) c.2538C>T (p.Thr846=) | ClinVar gnomAD v4 |
| 1 | g.10324837A= | CA1153159805 | KIF1B | c.2479A= (p.Thr827=) c.2542A= (p.Thr848=) c.2617A= (p.Thr873=) c.2575A= (p.Thr859=) c.2539A= (p.Thr847=) | |
| 1 | g.10324837A>C | CA338335701 | KIF1B | c.2479A>C (p.Thr827Pro) c.2542A>C (p.Thr848Pro) c.2617A>C (p.Thr873Pro) c.2575A>C (p.Thr859Pro) c.2539A>C (p.Thr847Pro) | ClinVar |
| 1 | g.10324837A>G | CA338335703 | KIF1B | c.2479A>G (p.Thr827Ala) c.2542A>G (p.Thr848Ala) c.2617A>G (p.Thr873Ala) c.2575A>G (p.Thr859Ala) c.2539A>G (p.Thr847Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.10324837A>T | CA338335704 | KIF1B | c.2479A>T (p.Thr827Ser) c.2542A>T (p.Thr848Ser) c.2617A>T (p.Thr873Ser) c.2575A>T (p.Thr859Ser) c.2539A>T (p.Thr847Ser) | |
| 1 | g.10324838C>A | CA338335705 | KIF1B | c.2480C>A (p.Thr827Asn) c.2543C>A (p.Thr848Asn) c.2618C>A (p.Thr873Asn) c.2576C>A (p.Thr859Asn) c.2540C>A (p.Thr847Asn) | |
| 1 | g.10324838C= | CA1141580568 | KIF1B | c.2480C= (p.Thr827=) c.2543C= (p.Thr848=) c.2618C= (p.Thr873=) c.2576C= (p.Thr859=) c.2540C= (p.Thr847=) | |
| 1 | g.10324838C>G | CA338335706 | KIF1B | c.2480C>G (p.Thr827Ser) c.2543C>G (p.Thr848Ser) c.2618C>G (p.Thr873Ser) c.2576C>G (p.Thr859Ser) c.2540C>G (p.Thr847Ser) | |
| 1 | g.10324838C>T | CA116990 | KIF1B | c.2480C>T (p.Thr827Ile) c.2543C>T (p.Thr848Ile) c.2618C>T (p.Thr873Ile) c.2576C>T (p.Thr859Ile) c.2540C>T (p.Thr847Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10324839T>A | CA415881679 | KIF1B | c.2481T>A (p.Thr827=) c.2544T>A (p.Thr848=) c.2619T>A (p.Thr873=) c.2577T>A (p.Thr859=) c.2541T>A (p.Thr847=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.10324839T>C | CA415881680 | KIF1B | c.2481T>C (p.Thr827=) c.2544T>C (p.Thr848=) c.2619T>C (p.Thr873=) c.2577T>C (p.Thr859=) c.2541T>C (p.Thr847=) | ClinVar gnomAD v4 |
| 1 | g.10324839T>G | CA415881681 | KIF1B | c.2481T>G (p.Thr827=) c.2544T>G (p.Thr848=) c.2619T>G (p.Thr873=) c.2577T>G (p.Thr859=) c.2541T>G (p.Thr847=) | |
| 1 | g.10324839T= | CA1153159822 | KIF1B | c.2481T= (p.Thr827=) c.2544T= (p.Thr848=) c.2619T= (p.Thr873=) c.2577T= (p.Thr859=) c.2541T= (p.Thr847=) | |
| 1 | g.10324840G>A | CA338335710 | KIF1B | c.2482G>A (p.Val828Met) c.2545G>A (p.Val849Met) c.2620G>A (p.Val874Met) c.2578G>A (p.Val860Met) c.2542G>A (p.Val848Met) | ClinVar |
| 1 | g.10324840G>C | CA338335708 | KIF1B | c.2482G>C (p.Val828Leu) c.2545G>C (p.Val849Leu) c.2620G>C (p.Val874Leu) c.2578G>C (p.Val860Leu) c.2542G>C (p.Val848Leu) | gnomAD v4 |
| 1 | g.10324840G>T | CA338335707 | KIF1B | c.2482G>T (p.Val828Leu) c.2545G>T (p.Val849Leu) c.2620G>T (p.Val874Leu) c.2578G>T (p.Val860Leu) c.2542G>T (p.Val848Leu) | |
| 1 | g.10324841T>A | CA338335712 | KIF1B | c.2483T>A (p.Val828Glu) c.2546T>A (p.Val849Glu) c.2621T>A (p.Val874Glu) c.2579T>A (p.Val860Glu) c.2543T>A (p.Val848Glu) | |
| 1 | g.10324841T>C | CA338335713 | KIF1B | c.2483T>C (p.Val828Ala) c.2546T>C (p.Val849Ala) c.2621T>C (p.Val874Ala) c.2579T>C (p.Val860Ala) c.2543T>C (p.Val848Ala) | |
| 1 | g.10324841T>G | CA338335715 | KIF1B | c.2483T>G (p.Val828Gly) c.2546T>G (p.Val849Gly) c.2621T>G (p.Val874Gly) c.2579T>G (p.Val860Gly) c.2543T>G (p.Val848Gly) | |
| 1 | g.10324842G>A | CA415881682 | KIF1B | c.2484G>A (p.Val828=) c.2547G>A (p.Val849=) c.2622G>A (p.Val874=) c.2580G>A (p.Val860=) c.2544G>A (p.Val848=) | ClinVar dbSNP |
| 1 | g.10324842G>C | CA415881683 | KIF1B | c.2484G>C (p.Val828=) c.2547G>C (p.Val849=) c.2622G>C (p.Val874=) c.2580G>C (p.Val860=) c.2544G>C (p.Val848=) | |
| 1 | g.10324842G>T | CA415881684 | KIF1B | c.2484G>T (p.Val828=) c.2547G>T (p.Val849=) c.2622G>T (p.Val874=) c.2580G>T (p.Val860=) c.2544G>T (p.Val848=) | |
| 1 | g.10324843A>C | CA338335717 | KIF1B | c.2485A>C (p.Thr829Pro) c.2548A>C (p.Thr850Pro) c.2623A>C (p.Thr875Pro) c.2581A>C (p.Thr861Pro) c.2545A>C (p.Thr849Pro) | |
| 1 | g.10324843A>G | CA338335718 | KIF1B | c.2485A>G (p.Thr829Ala) c.2548A>G (p.Thr850Ala) c.2623A>G (p.Thr875Ala) c.2581A>G (p.Thr861Ala) c.2545A>G (p.Thr849Ala) | |
| 1 | g.10324843A>T | CA338335720 | KIF1B | c.2485A>T (p.Thr829Ser) c.2548A>T (p.Thr850Ser) c.2623A>T (p.Thr875Ser) c.2581A>T (p.Thr861Ser) c.2545A>T (p.Thr849Ser) | |
| 1 | g.10324844C>A | CA338335722 | KIF1B | c.2486C>A (p.Thr829Asn) c.2549C>A (p.Thr850Asn) c.2624C>A (p.Thr875Asn) c.2582C>A (p.Thr861Asn) c.2546C>A (p.Thr849Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10324844C= | CA1153159834 | KIF1B | c.2486C= (p.Thr829=) c.2549C= (p.Thr850=) c.2624C= (p.Thr875=) c.2582C= (p.Thr861=) c.2546C= (p.Thr849=) | |
| 1 | g.10324844C>G | CA338335724 | KIF1B | c.2486C>G (p.Thr829Ser) c.2549C>G (p.Thr850Ser) c.2624C>G (p.Thr875Ser) c.2582C>G (p.Thr861Ser) c.2546C>G (p.Thr849Ser) | gnomAD v4 |
| 1 | g.10324844C>T | CA581570 | KIF1B | c.2486C>T (p.Thr829Ile) c.2549C>T (p.Thr850Ile) c.2624C>T (p.Thr875Ile) c.2582C>T (p.Thr861Ile) c.2546C>T (p.Thr849Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10324845T>A | CA415881687 | KIF1B | c.2487T>A (p.Thr829=) c.2550T>A (p.Thr850=) c.2625T>A (p.Thr875=) c.2583T>A (p.Thr861=) c.2547T>A (p.Thr849=) | |
| 1 | g.10324845T>C | CA415881686 | KIF1B | c.2487T>C (p.Thr829=) c.2550T>C (p.Thr850=) c.2625T>C (p.Thr875=) c.2583T>C (p.Thr861=) c.2547T>C (p.Thr849=) | gnomAD v4 |
| 1 | g.10324845T>G | CA415881685 | KIF1B | c.2487T>G (p.Thr829=) c.2550T>G (p.Thr850=) c.2625T>G (p.Thr875=) c.2583T>G (p.Thr861=) c.2547T>G (p.Thr849=) | |
| 1 | g.10324846G>A | CA338335726 | KIF1B | c.2488G>A (p.Gly830Ser) c.2551G>A (p.Gly851Ser) c.2626G>A (p.Gly876Ser) c.2584G>A (p.Gly862Ser) c.2548G>A (p.Gly850Ser) | ClinVar gnomAD v4 |
| 1 | g.10324846G>C | CA338335728 | KIF1B | c.2488G>C (p.Gly830Arg) c.2551G>C (p.Gly851Arg) c.2626G>C (p.Gly876Arg) c.2584G>C (p.Gly862Arg) c.2548G>C (p.Gly850Arg) | |
| 1 | g.10324846G>T | CA338335730 | KIF1B | c.2488G>T (p.Gly830Cys) c.2551G>T (p.Gly851Cys) c.2626G>T (p.Gly876Cys) c.2584G>T (p.Gly862Cys) c.2548G>T (p.Gly850Cys) | |
| 1 | g.10324847G>A | CA338335737 | KIF1B | c.2489G>A (p.Gly830Asp) c.2552G>A (p.Gly851Asp) c.2627G>A (p.Gly876Asp) c.2585G>A (p.Gly862Asp) c.2549G>A (p.Gly850Asp) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.10324847G>C | CA338335736 | KIF1B | c.2489G>C (p.Gly830Ala) c.2552G>C (p.Gly851Ala) c.2627G>C (p.Gly876Ala) c.2585G>C (p.Gly862Ala) c.2549G>C (p.Gly850Ala) | ClinVar |
| 1 | g.10324847G= | CA1153159836 | KIF1B | c.2489G= (p.Gly830=) c.2552G= (p.Gly851=) c.2627G= (p.Gly876=) c.2585G= (p.Gly862=) c.2549G= (p.Gly850=) |