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.10337425A>C | CA338340440 | KIF1B | c.3176A>C (p.Glu1059Ala) c.3239A>C (p.Glu1080Ala) c.3314A>C (p.Glu1105Ala) c.3272A>C (p.Glu1091Ala) c.3236A>C (p.Glu1079Ala) | gnomAD v4 |
| 1 | g.10337425A>G | CA338340441 | KIF1B | c.3176A>G (p.Glu1059Gly) c.3239A>G (p.Glu1080Gly) c.3314A>G (p.Glu1105Gly) c.3272A>G (p.Glu1091Gly) c.3236A>G (p.Glu1079Gly) | |
| 1 | g.10337425A>T | CA338340443 | KIF1B | c.3176A>T (p.Glu1059Val) c.3239A>T (p.Glu1080Val) c.3314A>T (p.Glu1105Val) c.3272A>T (p.Glu1091Val) c.3236A>T (p.Glu1079Val) | |
| 1 | g.10337426A>C | CA338340445 | KIF1B | c.3177A>C (p.Glu1059Asp) c.3240A>C (p.Glu1080Asp) c.3315A>C (p.Glu1105Asp) c.3273A>C (p.Glu1091Asp) c.3237A>C (p.Glu1079Asp) | |
| 1 | g.10337426A>G | CA415883413 | KIF1B | c.3177A>G (p.Glu1059=) c.3240A>G (p.Glu1080=) c.3315A>G (p.Glu1105=) c.3273A>G (p.Glu1091=) c.3237A>G (p.Glu1079=) | |
| 1 | g.10337426A>T | CA338340447 | KIF1B | c.3177A>T (p.Glu1059Asp) c.3240A>T (p.Glu1080Asp) c.3315A>T (p.Glu1105Asp) c.3273A>T (p.Glu1091Asp) c.3237A>T (p.Glu1079Asp) | |
| 1 | g.10337427G>A | CA338340448 | KIF1B | c.3178G>A (p.Glu1060Lys) c.3241G>A (p.Glu1081Lys) c.3316G>A (p.Glu1106Lys) c.3274G>A (p.Glu1092Lys) c.3238G>A (p.Glu1080Lys) | ClinVar |
| 1 | g.10337427G>C | CA581752 | KIF1B | c.3178G>C (p.Glu1060Gln) c.3241G>C (p.Glu1081Gln) c.3316G>C (p.Glu1106Gln) c.3274G>C (p.Glu1092Gln) c.3238G>C (p.Glu1080Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.10337427G= | CA1153180514 | KIF1B | c.3178G= (p.Glu1060=) c.3241G= (p.Glu1081=) c.3316G= (p.Glu1106=) c.3274G= (p.Glu1092=) c.3238G= (p.Glu1080=) | |
| 1 | g.10337427G>T | CA338340449 | KIF1B | c.3178G>T (p.Glu1060Ter) c.3241G>T (p.Glu1081Ter) c.3316G>T (p.Glu1106Ter) c.3274G>T (p.Glu1092Ter) c.3238G>T (p.Glu1080Ter) | dbSNP |
| 1 | g.10337428A>C | CA338340451 | KIF1B | c.3179A>C (p.Glu1060Ala) c.3242A>C (p.Glu1081Ala) c.3317A>C (p.Glu1106Ala) c.3275A>C (p.Glu1092Ala) c.3239A>C (p.Glu1080Ala) | |
| 1 | g.10337428A>G | CA338340452 | KIF1B | c.3179A>G (p.Glu1060Gly) c.3242A>G (p.Glu1081Gly) c.3317A>G (p.Glu1106Gly) c.3275A>G (p.Glu1092Gly) c.3239A>G (p.Glu1080Gly) | |
| 1 | g.10337428A>T | CA338340453 | KIF1B | c.3179A>T (p.Glu1060Val) c.3242A>T (p.Glu1081Val) c.3317A>T (p.Glu1106Val) c.3275A>T (p.Glu1092Val) c.3239A>T (p.Glu1080Val) | |
| 1 | g.10337429G>A | CA415883423 | KIF1B | c.3180G>A (p.Glu1060=) c.3243G>A (p.Glu1081=) c.3318G>A (p.Glu1106=) c.3276G>A (p.Glu1092=) c.3240G>A (p.Glu1080=) | COSMIC |
| 1 | g.10337429G>C | CA338340455 | KIF1B | c.3180G>C (p.Glu1060Asp) c.3243G>C (p.Glu1081Asp) c.3318G>C (p.Glu1106Asp) c.3276G>C (p.Glu1092Asp) c.3240G>C (p.Glu1080Asp) | |
| 1 | g.10337429G>T | CA338340456 | KIF1B | c.3180G>T (p.Glu1060Asp) c.3243G>T (p.Glu1081Asp) c.3318G>T (p.Glu1106Asp) c.3276G>T (p.Glu1092Asp) c.3240G>T (p.Glu1080Asp) | |
| 1 | g.10337430A>C | CA338340458 | KIF1B | c.3181A>C (p.Ile1061Leu) c.3244A>C (p.Ile1082Leu) c.3319A>C (p.Ile1107Leu) c.3277A>C (p.Ile1093Leu) c.3241A>C (p.Ile1081Leu) | |
| 1 | g.10337430A>G | CA338340460 | KIF1B | c.3181A>G (p.Ile1061Val) c.3244A>G (p.Ile1082Val) c.3319A>G (p.Ile1107Val) c.3277A>G (p.Ile1093Val) c.3241A>G (p.Ile1081Val) | gnomAD v4 |
| 1 | g.10337430A>T | CA338340461 | KIF1B | c.3181A>T (p.Ile1061Phe) c.3244A>T (p.Ile1082Phe) c.3319A>T (p.Ile1107Phe) c.3277A>T (p.Ile1093Phe) c.3241A>T (p.Ile1081Phe) | |
| 1 | g.10337431T>A | CA338340462 | KIF1B | c.3182T>A (p.Ile1061Asn) c.3245T>A (p.Ile1082Asn) c.3320T>A (p.Ile1107Asn) c.3278T>A (p.Ile1093Asn) c.3242T>A (p.Ile1081Asn) | |
| 1 | g.10337431T>C | CA581753 | KIF1B | c.3182T>C (p.Ile1061Thr) c.3245T>C (p.Ile1082Thr) c.3320T>C (p.Ile1107Thr) c.3278T>C (p.Ile1093Thr) c.3242T>C (p.Ile1081Thr) | dbSNP ExAC gnomAD v2 |
| 1 | g.10337431T>G | CA338340464 | KIF1B | c.3182T>G (p.Ile1061Ser) c.3245T>G (p.Ile1082Ser) c.3320T>G (p.Ile1107Ser) c.3278T>G (p.Ile1093Ser) c.3242T>G (p.Ile1081Ser) | |
| 1 | g.10337431T= | CA1153180522 | KIF1B | c.3182T= (p.Ile1061=) c.3245T= (p.Ile1082=) c.3320T= (p.Ile1107=) c.3278T= (p.Ile1093=) c.3242T= (p.Ile1081=) | |
| 1 | g.10337432T>A | CA415883434 | KIF1B | c.3183T>A (p.Ile1061=) c.3246T>A (p.Ile1082=) c.3321T>A (p.Ile1107=) c.3279T>A (p.Ile1093=) c.3243T>A (p.Ile1081=) | |
| 1 | g.10337432T>C | CA415883435 | KIF1B | c.3183T>C (p.Ile1061=) c.3246T>C (p.Ile1082=) c.3321T>C (p.Ile1107=) c.3279T>C (p.Ile1093=) c.3243T>C (p.Ile1081=) | |
| 1 | g.10337432T>G | CA338340466 | KIF1B | c.3183T>G (p.Ile1061Met) c.3246T>G (p.Ile1082Met) c.3321T>G (p.Ile1107Met) c.3279T>G (p.Ile1093Met) c.3243T>G (p.Ile1081Met) | |
| 1 | g.10337433G>A | CA338340468 | KIF1B | c.3184G>A (p.Gly1062Ser) c.3247G>A (p.Gly1083Ser) c.3322G>A (p.Gly1108Ser) c.3280G>A (p.Gly1094Ser) c.3244G>A (p.Gly1082Ser) | |
| 1 | g.10337433G>C | CA338340470 | KIF1B | c.3184G>C (p.Gly1062Arg) c.3247G>C (p.Gly1083Arg) c.3322G>C (p.Gly1108Arg) c.3280G>C (p.Gly1094Arg) c.3244G>C (p.Gly1082Arg) | |
| 1 | g.10337433G>T | CA338340469 | KIF1B | c.3184G>T (p.Gly1062Cys) c.3247G>T (p.Gly1083Cys) c.3322G>T (p.Gly1108Cys) c.3280G>T (p.Gly1094Cys) c.3244G>T (p.Gly1082Cys) | |
| 1 | g.10337434G>A | CA338340472 | KIF1B | c.3185G>A (p.Gly1062Asp) c.3248G>A (p.Gly1083Asp) c.3323G>A (p.Gly1108Asp) c.3281G>A (p.Gly1094Asp) c.3245G>A (p.Gly1082Asp) | ClinVar dbSNP COSMIC |
| 1 | g.10337434G>C | CA338340473 | KIF1B | c.3185G>C (p.Gly1062Ala) c.3248G>C (p.Gly1083Ala) c.3323G>C (p.Gly1108Ala) c.3281G>C (p.Gly1094Ala) c.3245G>C (p.Gly1082Ala) | |
| 1 | g.10337434G= | CA1153180525 | KIF1B | c.3185G= (p.Gly1062=) c.3248G= (p.Gly1083=) c.3323G= (p.Gly1108=) c.3281G= (p.Gly1094=) c.3245G= (p.Gly1082=) | |
| 1 | g.10337434G>T | CA338340475 | KIF1B | c.3185G>T (p.Gly1062Val) c.3248G>T (p.Gly1083Val) c.3323G>T (p.Gly1108Val) c.3281G>T (p.Gly1094Val) c.3245G>T (p.Gly1082Val) | |
| 1 | g.10337434_10337435delinsCA | CA2697552168 | KIF1B | c.3185_3186delinsCA (p.Gly1062Ala) c.3248_3249delinsCA (p.Gly1083Ala) c.3323_3324delinsCA (p.Gly1108Ala) c.3281_3282delinsCA (p.Gly1094Ala) c.3245_3246delinsCA (p.Gly1082Ala) | ClinVar |
| 1 | g.10337435C>A | CA415883445 | KIF1B | c.3186C>A (p.Gly1062=) c.3249C>A (p.Gly1083=) c.3324C>A (p.Gly1108=) c.3282C>A (p.Gly1094=) c.3246C>A (p.Gly1082=) | |
| 1 | g.10337435C>G | CA415883448 | KIF1B | c.3186C>G (p.Gly1062=) c.3249C>G (p.Gly1083=) c.3324C>G (p.Gly1108=) c.3282C>G (p.Gly1094=) c.3246C>G (p.Gly1082=) | |
| 1 | g.10337435C>T | CA415883446 | KIF1B | c.3186C>T (p.Gly1062=) c.3249C>T (p.Gly1083=) c.3324C>T (p.Gly1108=) c.3282C>T (p.Gly1094=) c.3246C>T (p.Gly1082=) | |
| 1 | g.10337436A>C | CA338340476 | KIF1B | c.3187A>C (p.Asn1063His) c.3250A>C (p.Asn1084His) c.3325A>C (p.Asn1109His) c.3283A>C (p.Asn1095His) c.3247A>C (p.Asn1083His) | |
| 1 | g.10337436A>G | CA338340477 | KIF1B | c.3187A>G (p.Asn1063Asp) c.3250A>G (p.Asn1084Asp) c.3325A>G (p.Asn1109Asp) c.3283A>G (p.Asn1095Asp) c.3247A>G (p.Asn1083Asp) | |
| 1 | g.10337436A>T | CA338340478 | KIF1B | c.3187A>T (p.Asn1063Tyr) c.3250A>T (p.Asn1084Tyr) c.3325A>T (p.Asn1109Tyr) c.3283A>T (p.Asn1095Tyr) c.3247A>T (p.Asn1083Tyr) | |
| 1 | g.10337437A>C | CA338340480 | KIF1B | c.3188A>C (p.Asn1063Thr) c.3251A>C (p.Asn1084Thr) c.3326A>C (p.Asn1109Thr) c.3284A>C (p.Asn1095Thr) c.3248A>C (p.Asn1083Thr) | |
| 1 | g.10337437A>G | CA338340483 | KIF1B | c.3188A>G (p.Asn1063Ser) c.3251A>G (p.Asn1084Ser) c.3326A>G (p.Asn1109Ser) c.3284A>G (p.Asn1095Ser) c.3248A>G (p.Asn1083Ser) | |
| 1 | g.10337437A>T | CA338340485 | KIF1B | c.3188A>T (p.Asn1063Ile) c.3251A>T (p.Asn1084Ile) c.3326A>T (p.Asn1109Ile) c.3284A>T (p.Asn1095Ile) c.3248A>T (p.Asn1083Ile) | |
| 1 | g.10337438C>A | CA581754 | KIF1B | c.3189C>A (p.Asn1063Lys) c.3252C>A (p.Asn1084Lys) c.3327C>A (p.Asn1109Lys) c.3285C>A (p.Asn1095Lys) c.3249C>A (p.Asn1083Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10337438C= | CA1143375899 | KIF1B | c.3189C= (p.Asn1063=) c.3252C= (p.Asn1084=) c.3327C= (p.Asn1109=) c.3285C= (p.Asn1095=) c.3249C= (p.Asn1083=) | |
| 1 | g.10337438C>G | CA338340487 | KIF1B | c.3189C>G (p.Asn1063Lys) c.3252C>G (p.Asn1084Lys) c.3327C>G (p.Asn1109Lys) c.3285C>G (p.Asn1095Lys) c.3249C>G (p.Asn1083Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.10337438C>T | CA415883457 | KIF1B | c.3189C>T (p.Asn1063=) c.3252C>T (p.Asn1084=) c.3327C>T (p.Asn1109=) c.3285C>T (p.Asn1095=) c.3249C>T (p.Asn1083=) | ClinVar gnomAD v4 COSMIC |
| 1 | g.10337439C>A | CA338340492 | KIF1B | c.3190C>A (p.His1064Asn) c.3253C>A (p.His1085Asn) c.3328C>A (p.His1110Asn) c.3286C>A (p.His1096Asn) c.3250C>A (p.His1084Asn) | dbSNP |
| 1 | g.10337439C= | CA1153180530 | KIF1B | c.3190C= (p.His1064=) c.3253C= (p.His1085=) c.3328C= (p.His1110=) c.3286C= (p.His1096=) c.3250C= (p.His1084=) | |
| 1 | g.10337439C>G | CA338340491 | KIF1B | c.3190C>G (p.His1064Asp) c.3253C>G (p.His1085Asp) c.3328C>G (p.His1110Asp) c.3286C>G (p.His1096Asp) c.3250C>G (p.His1084Asp) |