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.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=) | |
| 1 | g.10324847G>T | CA338335735 | KIF1B | c.2489G>T (p.Gly830Val) c.2552G>T (p.Gly851Val) c.2627G>T (p.Gly876Val) c.2585G>T (p.Gly862Val) c.2549G>T (p.Gly850Val) | |
| 1 | g.10324848C>A | CA415881688 | KIF1B | c.2490C>A (p.Gly830=) c.2553C>A (p.Gly851=) c.2628C>A (p.Gly876=) c.2586C>A (p.Gly862=) c.2550C>A (p.Gly850=) | |
| 1 | g.10324848C>G | CA415881689 | KIF1B | c.2490C>G (p.Gly830=) c.2553C>G (p.Gly851=) c.2628C>G (p.Gly876=) c.2586C>G (p.Gly862=) c.2550C>G (p.Gly850=) | |
| 1 | g.10324848C>T | CA415881690 | KIF1B | c.2490C>T (p.Gly830=) c.2553C>T (p.Gly851=) c.2628C>T (p.Gly876=) c.2586C>T (p.Gly862=) c.2550C>T (p.Gly850=) | ClinVar |
| 1 | g.10324849A>C | CA338335738 | KIF1B | c.2491A>C (p.Ser831Arg) c.2554A>C (p.Ser852Arg) c.2629A>C (p.Ser877Arg) c.2587A>C (p.Ser863Arg) c.2551A>C (p.Ser851Arg) | |
| 1 | g.10324849A>G | CA338335741 | KIF1B | c.2491A>G (p.Ser831Gly) c.2554A>G (p.Ser852Gly) c.2629A>G (p.Ser877Gly) c.2587A>G (p.Ser863Gly) c.2551A>G (p.Ser851Gly) | |
| 1 | g.10324849A>T | CA338335739 | KIF1B | c.2491A>T (p.Ser831Cys) c.2554A>T (p.Ser852Cys) c.2629A>T (p.Ser877Cys) c.2587A>T (p.Ser863Cys) c.2551A>T (p.Ser851Cys) | |
| 1 | g.10324850G>A | CA338335742 | KIF1B | c.2492G>A (p.Ser831Asn) c.2555G>A (p.Ser852Asn) c.2630G>A (p.Ser877Asn) c.2588G>A (p.Ser863Asn) c.2552G>A (p.Ser851Asn) | dbSNP |
| 1 | g.10324850G>C | CA338335743 | KIF1B | c.2492G>C (p.Ser831Thr) c.2555G>C (p.Ser852Thr) c.2630G>C (p.Ser877Thr) c.2588G>C (p.Ser863Thr) c.2552G>C (p.Ser851Thr) | |
| 1 | g.10324850G= | CA1153159842 | KIF1B | c.2492G= (p.Ser831=) c.2555G= (p.Ser852=) c.2630G= (p.Ser877=) c.2588G= (p.Ser863=) c.2552G= (p.Ser851=) | |
| 1 | g.10324850G>T | CA338335745 | KIF1B | c.2492G>T (p.Ser831Ile) c.2555G>T (p.Ser852Ile) c.2630G>T (p.Ser877Ile) c.2588G>T (p.Ser863Ile) c.2552G>T (p.Ser851Ile) | gnomAD v4 |
| 1 | g.10324851C>A | CA338335747 | KIF1B | c.2493C>A (p.Ser831Arg) c.2556C>A (p.Ser852Arg) c.2631C>A (p.Ser877Arg) c.2589C>A (p.Ser863Arg) c.2553C>A (p.Ser851Arg) | |
| 1 | g.10324851C= | CA1143391989 | KIF1B | c.2493C= (p.Ser831=) c.2556C= (p.Ser852=) c.2631C= (p.Ser877=) c.2589C= (p.Ser863=) c.2553C= (p.Ser851=) | |
| 1 | g.10324851C>G | CA338335749 | KIF1B | c.2493C>G (p.Ser831Arg) c.2556C>G (p.Ser852Arg) c.2631C>G (p.Ser877Arg) c.2589C>G (p.Ser863Arg) c.2553C>G (p.Ser851Arg) | |
| 1 | g.10324851C>T | CA17836393 | KIF1B | c.2493C>T (p.Ser831=) c.2556C>T (p.Ser852=) c.2631C>T (p.Ser877=) c.2589C>T (p.Ser863=) c.2553C>T (p.Ser851=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.10324852G>A | CA338335755 | KIF1B | c.2494G>A (p.Asp832Asn) c.2557G>A (p.Asp853Asn) c.2632G>A (p.Asp878Asn) c.2590G>A (p.Asp864Asn) c.2554G>A (p.Asp852Asn) | dbSNP gnomAD v4 COSMIC |
| 1 | g.10324852G>C | CA338335757 | KIF1B | c.2494G>C (p.Asp832His) c.2557G>C (p.Asp853His) c.2632G>C (p.Asp878His) c.2590G>C (p.Asp864His) c.2554G>C (p.Asp852His) | |
| 1 | g.10324852G= | CA1153159849 | KIF1B | c.2494G= (p.Asp832=) c.2557G= (p.Asp853=) c.2632G= (p.Asp878=) c.2590G= (p.Asp864=) c.2554G= (p.Asp852=) | |
| 1 | g.10324852G>T | CA338335758 | KIF1B | c.2494G>T (p.Asp832Tyr) c.2557G>T (p.Asp853Tyr) c.2632G>T (p.Asp878Tyr) c.2590G>T (p.Asp864Tyr) c.2554G>T (p.Asp852Tyr) | |
| 1 | g.10324853A>C | CA338335759 | KIF1B | c.2495A>C (p.Asp832Ala) c.2558A>C (p.Asp853Ala) c.2633A>C (p.Asp878Ala) c.2591A>C (p.Asp864Ala) c.2555A>C (p.Asp852Ala) | |
| 1 | g.10324853A>G | CA338335760 | KIF1B | c.2495A>G (p.Asp832Gly) c.2558A>G (p.Asp853Gly) c.2633A>G (p.Asp878Gly) c.2591A>G (p.Asp864Gly) c.2555A>G (p.Asp852Gly) | |
| 1 | g.10324853A>T | CA338335761 | KIF1B | c.2495A>T (p.Asp832Val) c.2558A>T (p.Asp853Val) c.2633A>T (p.Asp878Val) c.2591A>T (p.Asp864Val) c.2555A>T (p.Asp852Val) | |
| 1 | g.10324854T>A | CA338335763 | KIF1B | c.2496T>A (p.Asp832Glu) c.2559T>A (p.Asp853Glu) c.2634T>A (p.Asp878Glu) c.2592T>A (p.Asp864Glu) c.2556T>A (p.Asp852Glu) | |
| 1 | g.10324854T>C | CA415881691 | KIF1B | c.2496T>C (p.Asp832=) c.2559T>C (p.Asp853=) c.2634T>C (p.Asp878=) c.2592T>C (p.Asp864=) c.2556T>C (p.Asp852=) | |
| 1 | g.10324854T>G | CA338335762 | KIF1B | c.2496T>G (p.Asp832Glu) c.2559T>G (p.Asp853Glu) c.2634T>G (p.Asp878Glu) c.2592T>G (p.Asp864Glu) c.2556T>G (p.Asp852Glu) | |
| 1 | g.10324855C>A | CA338335764 | KIF1B | c.2497C>A (p.Pro833Thr) c.2560C>A (p.Pro854Thr) c.2635C>A (p.Pro879Thr) c.2593C>A (p.Pro865Thr) c.2557C>A (p.Pro853Thr) | |
| 1 | g.10324855C= | CA1153159853 | KIF1B | c.2497C= (p.Pro833=) c.2560C= (p.Pro854=) c.2635C= (p.Pro879=) c.2593C= (p.Pro865=) c.2557C= (p.Pro853=) | |
| 1 | g.10324855C>G | CA581571 | KIF1B | c.2497C>G (p.Pro833Ala) c.2560C>G (p.Pro854Ala) c.2635C>G (p.Pro879Ala) c.2593C>G (p.Pro865Ala) c.2557C>G (p.Pro853Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10324855C>T | CA338335765 | KIF1B | c.2497C>T (p.Pro833Ser) c.2560C>T (p.Pro854Ser) c.2635C>T (p.Pro879Ser) c.2593C>T (p.Pro865Ser) c.2557C>T (p.Pro853Ser) | gnomAD v4 |
| 1 | g.10324856C>A | CA338335766 | KIF1B | c.2498C>A (p.Pro833His) c.2561C>A (p.Pro854His) c.2636C>A (p.Pro879His) c.2594C>A (p.Pro865His) c.2558C>A (p.Pro853His) | |
| 1 | g.10324856C= | CA1153159866 | KIF1B | c.2498C= (p.Pro833=) c.2561C= (p.Pro854=) c.2636C= (p.Pro879=) c.2594C= (p.Pro865=) c.2558C= (p.Pro853=) |