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.10324757G>A | CA338335343 | KIF1B | c.2400-1G>A (n.2400-1G>A) c.2463-1G>A (n.2463-1G>A) c.2538-1G>A (n.2538-1G>A) c.2496-1G>A (n.2496-1G>A) c.2460-1G>A (n.2460-1G>A) | ClinVar gnomAD v4 |
| 1 | g.10324757G>C | CA338335346 | KIF1B | c.2400-1G>C (n.2400-1G>C) c.2463-1G>C (n.2463-1G>C) c.2538-1G>C (n.2538-1G>C) c.2496-1G>C (n.2496-1G>C) c.2460-1G>C (n.2460-1G>C) | |
| 1 | g.10324757G>T | CA338335349 | KIF1B | c.2400-1G>T (n.2400-1G>T) c.2463-1G>T (n.2463-1G>T) c.2538-1G>T (n.2538-1G>T) c.2496-1G>T (n.2496-1G>T) c.2460-1G>T (n.2460-1G>T) | |
| 1 | g.10324758G>A | CA415881641 | KIF1B | c.2400G>A (p.Lys800=) c.2463G>A (p.Lys821=) c.2538G>A (p.Lys846=) c.2496G>A (p.Lys832=) c.2460G>A (p.Lys820=) | |
| 1 | g.10324758G>C | CA338335351 | KIF1B | c.2400G>C (p.Lys800Asn) c.2463G>C (p.Lys821Asn) c.2538G>C (p.Lys846Asn) c.2496G>C (p.Lys832Asn) c.2460G>C (p.Lys820Asn) | |
| 1 | g.10324758G>T | CA338335352 | KIF1B | c.2400G>T (p.Lys800Asn) c.2463G>T (p.Lys821Asn) c.2538G>T (p.Lys846Asn) c.2496G>T (p.Lys832Asn) c.2460G>T (p.Lys820Asn) | |
| 1 | g.10324759C>A | CA338335355 | KIF1B | c.2401C>A (p.Gln801Lys) c.2464C>A (p.Gln822Lys) c.2539C>A (p.Gln847Lys) c.2497C>A (p.Gln833Lys) c.2461C>A (p.Gln821Lys) | gnomAD v4 |
| 1 | g.10324759C= | CA1153159586 | KIF1B | c.2401C= (p.Gln801=) c.2464C= (p.Gln822=) c.2539C= (p.Gln847=) c.2497C= (p.Gln833=) c.2461C= (p.Gln821=) | |
| 1 | g.10324759C>G | CA338335358 | KIF1B | c.2401C>G (p.Gln801Glu) c.2464C>G (p.Gln822Glu) c.2539C>G (p.Gln847Glu) c.2497C>G (p.Gln833Glu) c.2461C>G (p.Gln821Glu) | |
| 1 | g.10324759C>T | CA338335360 | KIF1B | c.2401C>T (p.Gln801Ter) c.2464C>T (p.Gln822Ter) c.2539C>T (p.Gln847Ter) c.2497C>T (p.Gln833Ter) c.2461C>T (p.Gln821Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.10324760A>C | CA338335367 | KIF1B | c.2402A>C (p.Gln801Pro) c.2465A>C (p.Gln822Pro) c.2540A>C (p.Gln847Pro) c.2498A>C (p.Gln833Pro) c.2462A>C (p.Gln821Pro) | |
| 1 | g.10324760A>G | CA338335368 | KIF1B | c.2402A>G (p.Gln801Arg) c.2465A>G (p.Gln822Arg) c.2540A>G (p.Gln847Arg) c.2498A>G (p.Gln833Arg) c.2462A>G (p.Gln821Arg) | |
| 1 | g.10324760A>T | CA338335370 | KIF1B | c.2402A>T (p.Gln801Leu) c.2465A>T (p.Gln822Leu) c.2540A>T (p.Gln847Leu) c.2498A>T (p.Gln833Leu) c.2462A>T (p.Gln821Leu) | |
| 1 | g.10324761G>A | CA415881642 | KIF1B | c.2403G>A (p.Gln801=) c.2466G>A (p.Gln822=) c.2541G>A (p.Gln847=) c.2499G>A (p.Gln833=) c.2463G>A (p.Gln821=) | |
| 1 | g.10324761G>C | CA581552 | KIF1B | c.2403G>C (p.Gln801His) c.2466G>C (p.Gln822His) c.2541G>C (p.Gln847His) c.2499G>C (p.Gln833His) c.2463G>C (p.Gln821His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.10324761G= | CA1153159593 | KIF1B | c.2403G= (p.Gln801=) c.2466G= (p.Gln822=) c.2541G= (p.Gln847=) c.2499G= (p.Gln833=) c.2463G= (p.Gln821=) | |
| 1 | g.10324761G>T | CA338335373 | KIF1B | c.2403G>T (p.Gln801His) c.2466G>T (p.Gln822His) c.2541G>T (p.Gln847His) c.2499G>T (p.Gln833His) c.2463G>T (p.Gln821His) | |
| 1 | g.10324762A>C | CA415881643 | KIF1B | c.2404A>C (p.Arg802=) c.2467A>C (p.Arg823=) c.2542A>C (p.Arg848=) c.2500A>C (p.Arg834=) c.2464A>C (p.Arg822=) | |
| 1 | g.10324762A>G | CA338335374 | KIF1B | c.2404A>G (p.Arg802Gly) c.2467A>G (p.Arg823Gly) c.2542A>G (p.Arg848Gly) c.2500A>G (p.Arg834Gly) c.2464A>G (p.Arg822Gly) | |
| 1 | g.10324762A>T | CA338335375 | KIF1B | c.2404A>T (p.Arg802Trp) c.2467A>T (p.Arg823Trp) c.2542A>T (p.Arg848Trp) c.2500A>T (p.Arg834Trp) c.2464A>T (p.Arg822Trp) | |
| 1 | g.10324763G>A | CA338335376 | KIF1B | c.2405G>A (p.Arg802Lys) c.2468G>A (p.Arg823Lys) c.2543G>A (p.Arg848Lys) c.2501G>A (p.Arg834Lys) c.2465G>A (p.Arg822Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.10324763G>C | CA338335377 | KIF1B | c.2405G>C (p.Arg802Thr) c.2468G>C (p.Arg823Thr) c.2543G>C (p.Arg848Thr) c.2501G>C (p.Arg834Thr) c.2465G>C (p.Arg822Thr) | |
| 1 | g.10324763G= | CA1153159600 | KIF1B | c.2405G= (p.Arg802=) c.2468G= (p.Arg823=) c.2543G= (p.Arg848=) c.2501G= (p.Arg834=) c.2465G= (p.Arg822=) | |
| 1 | g.10324763G>T | CA338335378 | KIF1B | c.2405G>T (p.Arg802Met) c.2468G>T (p.Arg823Met) c.2543G>T (p.Arg848Met) c.2501G>T (p.Arg834Met) c.2465G>T (p.Arg822Met) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.10324764G>A | CA415881644 | KIF1B | c.2406G>A (p.Arg802=) c.2469G>A (p.Arg823=) c.2544G>A (p.Arg848=) c.2502G>A (p.Arg834=) c.2466G>A (p.Arg822=) | dbSNP |
| 1 | g.10324764G>C | CA338335380 | KIF1B | c.2406G>C (p.Arg802Ser) c.2469G>C (p.Arg823Ser) c.2544G>C (p.Arg848Ser) c.2502G>C (p.Arg834Ser) c.2466G>C (p.Arg822Ser) | |
| 1 | g.10324764G= | CA1153159604 | KIF1B | c.2406G= (p.Arg802=) c.2469G= (p.Arg823=) c.2544G= (p.Arg848=) c.2502G= (p.Arg834=) c.2466G= (p.Arg822=) | |
| 1 | g.10324764G>T | CA338335379 | KIF1B | c.2406G>T (p.Arg802Ser) c.2469G>T (p.Arg823Ser) c.2544G>T (p.Arg848Ser) c.2502G>T (p.Arg834Ser) c.2466G>T (p.Arg822Ser) | gnomAD v4 |
| 1 | g.10324765C>A | CA338335382 | KIF1B | c.2407C>A (p.Leu803Met) c.2470C>A (p.Leu824Met) c.2545C>A (p.Leu849Met) c.2503C>A (p.Leu835Met) c.2467C>A (p.Leu823Met) | |
| 1 | g.10324765C>G | CA338335383 | KIF1B | c.2407C>G (p.Leu803Val) c.2470C>G (p.Leu824Val) c.2545C>G (p.Leu849Val) c.2503C>G (p.Leu835Val) c.2467C>G (p.Leu823Val) | |
| 1 | g.10324765C>T | CA415881645 | KIF1B | c.2407C>T (p.Leu803=) c.2470C>T (p.Leu824=) c.2545C>T (p.Leu849=) c.2503C>T (p.Leu835=) c.2467C>T (p.Leu823=) | ClinVar |
| 1 | g.10324766T>A | CA338335384 | KIF1B | c.2408T>A (p.Leu803Gln) c.2471T>A (p.Leu824Gln) c.2546T>A (p.Leu849Gln) c.2504T>A (p.Leu835Gln) c.2468T>A (p.Leu823Gln) | |
| 1 | g.10324766T>C | CA338335386 | KIF1B | c.2408T>C (p.Leu803Pro) c.2471T>C (p.Leu824Pro) c.2546T>C (p.Leu849Pro) c.2504T>C (p.Leu835Pro) c.2468T>C (p.Leu823Pro) | |
| 1 | g.10324766T>G | CA338335387 | KIF1B | c.2408T>G (p.Leu803Arg) c.2471T>G (p.Leu824Arg) c.2546T>G (p.Leu849Arg) c.2504T>G (p.Leu835Arg) c.2468T>G (p.Leu823Arg) | |
| 1 | g.10324767G>A | CA415881646 | KIF1B | c.2409G>A (p.Leu803=) c.2472G>A (p.Leu824=) c.2547G>A (p.Leu849=) c.2505G>A (p.Leu835=) c.2469G>A (p.Leu823=) | |
| 1 | g.10324767G>C | CA415881648 | KIF1B | c.2409G>C (p.Leu803=) c.2472G>C (p.Leu824=) c.2547G>C (p.Leu849=) c.2505G>C (p.Leu835=) c.2469G>C (p.Leu823=) | |
| 1 | g.10324767G>T | CA415881647 | KIF1B | c.2409G>T (p.Leu803=) c.2472G>T (p.Leu824=) c.2547G>T (p.Leu849=) c.2505G>T (p.Leu835=) c.2469G>T (p.Leu823=) | |
| 1 | g.10324768G>A | CA338335390 | KIF1B | c.2410G>A (p.Asp804Asn) c.2473G>A (p.Asp825Asn) c.2548G>A (p.Asp850Asn) c.2506G>A (p.Asp836Asn) c.2470G>A (p.Asp824Asn) | ClinVar gnomAD v4 |
| 1 | g.10324768G>C | CA338335392 | KIF1B | c.2410G>C (p.Asp804His) c.2473G>C (p.Asp825His) c.2548G>C (p.Asp850His) c.2506G>C (p.Asp836His) c.2470G>C (p.Asp824His) | ClinVar |
| 1 | g.10324768G>T | CA338335394 | KIF1B | c.2410G>T (p.Asp804Tyr) c.2473G>T (p.Asp825Tyr) c.2548G>T (p.Asp850Tyr) c.2506G>T (p.Asp836Tyr) c.2470G>T (p.Asp824Tyr) | |
| 1 | g.10324769A= | CA1153159610 | KIF1B | c.2411A= (p.Asp804=) c.2474A= (p.Asp825=) c.2549A= (p.Asp850=) c.2507A= (p.Asp836=) c.2471A= (p.Asp824=) | |
| 1 | g.10324769A>C | CA338335396 | KIF1B | c.2411A>C (p.Asp804Ala) c.2474A>C (p.Asp825Ala) c.2549A>C (p.Asp850Ala) c.2507A>C (p.Asp836Ala) c.2471A>C (p.Asp824Ala) | |
| 1 | g.10324769A>G | CA581553 | KIF1B | c.2411A>G (p.Asp804Gly) c.2474A>G (p.Asp825Gly) c.2549A>G (p.Asp850Gly) c.2507A>G (p.Asp836Gly) c.2471A>G (p.Asp824Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.10324769A>T | CA338335399 | KIF1B | c.2411A>T (p.Asp804Val) c.2474A>T (p.Asp825Val) c.2549A>T (p.Asp850Val) c.2507A>T (p.Asp836Val) c.2471A>T (p.Asp824Val) | |
| 1 | g.10324770T>A | CA338335402 | KIF1B | c.2412T>A (p.Asp804Glu) c.2475T>A (p.Asp825Glu) c.2550T>A (p.Asp850Glu) c.2508T>A (p.Asp836Glu) c.2472T>A (p.Asp824Glu) | |
| 1 | g.10324770T>C | CA415881649 | KIF1B | c.2412T>C (p.Asp804=) c.2475T>C (p.Asp825=) c.2550T>C (p.Asp850=) c.2508T>C (p.Asp836=) c.2472T>C (p.Asp824=) | |
| 1 | g.10324770T>G | CA338335404 | KIF1B | c.2412T>G (p.Asp804Glu) c.2475T>G (p.Asp825Glu) c.2550T>G (p.Asp850Glu) c.2508T>G (p.Asp836Glu) c.2472T>G (p.Asp824Glu) | |
| 1 | g.10324771T>A | CA581554 | KIF1B | c.2413T>A (p.Leu805Met) c.2476T>A (p.Leu826Met) c.2551T>A (p.Leu851Met) c.2509T>A (p.Leu837Met) c.2473T>A (p.Leu825Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10324771T>C | CA415881650 | KIF1B | c.2413T>C (p.Leu805=) c.2476T>C (p.Leu826=) c.2551T>C (p.Leu851=) c.2509T>C (p.Leu837=) c.2473T>C (p.Leu825=) | |
| 1 | g.10324771T>G | CA338335406 | KIF1B | c.2413T>G (p.Leu805Val) c.2476T>G (p.Leu826Val) c.2551T>G (p.Leu851Val) c.2509T>G (p.Leu837Val) c.2473T>G (p.Leu825Val) |