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.10339764_10339769delinsTGAAGC | CA1153183383 | KIF1B | c.3285-5_3285delinsTGAAGC c.3348-5_3348delinsTGAAGC c.3423-5_3423delinsTGAAGC c.3381-5_3381delinsTGAAGC c.3345-5_3345delinsTGAAGC | |
| 1 | g.10339765_10339769del | CA521150597 | KIF1B | c.3285-4_3285del c.3348-4_3348del c.3423-4_3423del c.3381-4_3381del c.3345-4_3345del | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.10339768G>A | CA338340865 | KIF1B | c.3285-1G>A (n.3285-1G>A) c.3348-1G>A (n.3348-1G>A) c.3423-1G>A (n.3423-1G>A) c.3381-1G>A (n.3381-1G>A) c.3345-1G>A (n.3345-1G>A) | |
| 1 | g.10339768G>C | CA338340867 | KIF1B | c.3285-1G>C (n.3285-1G>C) c.3348-1G>C (n.3348-1G>C) c.3423-1G>C (n.3423-1G>C) c.3381-1G>C (n.3381-1G>C) c.3345-1G>C (n.3345-1G>C) | |
| 1 | g.10339768G>T | CA338340868 | KIF1B | c.3285-1G>T (n.3285-1G>T) c.3348-1G>T (n.3348-1G>T) c.3423-1G>T (n.3423-1G>T) c.3381-1G>T (n.3381-1G>T) c.3345-1G>T (n.3345-1G>T) | |
| 1 | g.10339769C>A | CA338340870 | KIF1B | c.3285C>A (p.Asn1095Lys) c.3348C>A (p.Asn1116Lys) c.3423C>A (p.Asn1141Lys) c.3381C>A (p.Asn1127Lys) c.3345C>A (p.Asn1115Lys) | |
| 1 | g.10339769C>G | CA338340871 | KIF1B | c.3285C>G (p.Asn1095Lys) c.3348C>G (p.Asn1116Lys) c.3423C>G (p.Asn1141Lys) c.3381C>G (p.Asn1127Lys) c.3345C>G (p.Asn1115Lys) | |
| 1 | g.10339769C>T | CA415883874 | KIF1B | c.3285C>T (p.Asn1095=) c.3348C>T (p.Asn1116=) c.3423C>T (p.Asn1141=) c.3381C>T (p.Asn1127=) c.3345C>T (p.Asn1115=) | gnomAD v4 COSMIC |
| 1 | g.10339770T>A | CA338340872 | KIF1B | c.3286T>A (p.Phe1096Ile) c.3349T>A (p.Phe1117Ile) c.3424T>A (p.Phe1142Ile) c.3382T>A (p.Phe1128Ile) c.3346T>A (p.Phe1116Ile) | |
| 1 | g.10339770T>C | CA338340876 | KIF1B | c.3286T>C (p.Phe1096Leu) c.3349T>C (p.Phe1117Leu) c.3424T>C (p.Phe1142Leu) c.3382T>C (p.Phe1128Leu) c.3346T>C (p.Phe1116Leu) | |
| 1 | g.10339770T>G | CA338340874 | KIF1B | c.3286T>G (p.Phe1096Val) c.3349T>G (p.Phe1117Val) c.3424T>G (p.Phe1142Val) c.3382T>G (p.Phe1128Val) c.3346T>G (p.Phe1116Val) | gnomAD v4 |
| 1 | g.10339771_10339774dup | CA521150599 | KIF1B | c.3287_3290dup (p.Leu1097PhefsTer6) c.3350_3353dup (p.Leu1118PhefsTer6) c.3425_3428dup (p.Leu1143PhefsTer6) c.3383_3386dup (p.Leu1129PhefsTer6) c.3347_3350dup (p.Leu1117PhefsTer6) | gnomAD v2 |
| 1 | g.10339770_10339774dup | CA521150601 | KIF1B | c.3286_3290dup (p.Leu1097PhefsTer?) c.3349_3353dup (p.Leu1118PhefsTer?) c.3424_3428dup (p.Leu1143PhefsTer?) c.3382_3386dup (p.Leu1129PhefsTer?) c.3346_3350dup (p.Leu1117PhefsTer?) | gnomAD v2 |
| 1 | g.10339771T>A | CA338340878 | KIF1B | c.3287T>A (p.Phe1096Tyr) c.3350T>A (p.Phe1117Tyr) c.3425T>A (p.Phe1142Tyr) c.3383T>A (p.Phe1128Tyr) c.3347T>A (p.Phe1116Tyr) | |
| 1 | g.10339771T>C | CA338340879 | KIF1B | c.3287T>C (p.Phe1096Ser) c.3350T>C (p.Phe1117Ser) c.3425T>C (p.Phe1142Ser) c.3383T>C (p.Phe1128Ser) c.3347T>C (p.Phe1116Ser) | |
| 1 | g.10339771T>G | CA338340880 | KIF1B | c.3287T>G (p.Phe1096Cys) c.3350T>G (p.Phe1117Cys) c.3425T>G (p.Phe1142Cys) c.3383T>G (p.Phe1128Cys) c.3347T>G (p.Phe1116Cys) | |
| 1 | g.10339772T>A | CA338340883 | KIF1B | c.3288T>A (p.Phe1096Leu) c.3351T>A (p.Phe1117Leu) c.3426T>A (p.Phe1142Leu) c.3384T>A (p.Phe1128Leu) c.3348T>A (p.Phe1116Leu) | |
| 1 | g.10339772T>C | CA415883877 | KIF1B | c.3288T>C (p.Phe1096=) c.3351T>C (p.Phe1117=) c.3426T>C (p.Phe1142=) c.3384T>C (p.Phe1128=) c.3348T>C (p.Phe1116=) | |
| 1 | g.10339772T>G | CA338340885 | KIF1B | c.3288T>G (p.Phe1096Leu) c.3351T>G (p.Phe1117Leu) c.3426T>G (p.Phe1142Leu) c.3384T>G (p.Phe1128Leu) c.3348T>G (p.Phe1116Leu) | |
| 1 | g.10339773T>A | CA338340887 | KIF1B | c.3289T>A (p.Leu1097Met) c.3352T>A (p.Leu1118Met) c.3427T>A (p.Leu1143Met) c.3385T>A (p.Leu1129Met) c.3349T>A (p.Leu1117Met) | |
| 1 | g.10339773T>C | CA415883878 | KIF1B | c.3289T>C (p.Leu1097=) c.3352T>C (p.Leu1118=) c.3427T>C (p.Leu1143=) c.3385T>C (p.Leu1129=) c.3349T>C (p.Leu1117=) | |
| 1 | g.10339773T>G | CA338340888 | KIF1B | c.3289T>G (p.Leu1097Val) c.3352T>G (p.Leu1118Val) c.3427T>G (p.Leu1143Val) c.3385T>G (p.Leu1129Val) c.3349T>G (p.Leu1117Val) | |
| 1 | g.10339774T>A | CA338340891 | KIF1B | c.3290T>A (p.Leu1097Ter) c.3353T>A (p.Leu1118Ter) c.3428T>A (p.Leu1143Ter) c.3386T>A (p.Leu1129Ter) c.3350T>A (p.Leu1117Ter) | |
| 1 | g.10339774T>C | CA338340892 | KIF1B | c.3290T>C (p.Leu1097Ser) c.3353T>C (p.Leu1118Ser) c.3428T>C (p.Leu1143Ser) c.3386T>C (p.Leu1129Ser) c.3350T>C (p.Leu1117Ser) | |
| 1 | g.10339774T>G | CA338340893 | KIF1B | c.3290T>G (p.Leu1097Trp) c.3353T>G (p.Leu1118Trp) c.3428T>G (p.Leu1143Trp) c.3386T>G (p.Leu1129Trp) c.3350T>G (p.Leu1117Trp) | |
| 1 | g.10339775G>A | CA415883880 | KIF1B | c.3291G>A (p.Leu1097=) c.3354G>A (p.Leu1118=) c.3429G>A (p.Leu1143=) c.3387G>A (p.Leu1129=) c.3351G>A (p.Leu1117=) | ClinVar gnomAD v4 |
| 1 | g.10339775G>C | CA338340894 | KIF1B | c.3291G>C (p.Leu1097Phe) c.3354G>C (p.Leu1118Phe) c.3429G>C (p.Leu1143Phe) c.3387G>C (p.Leu1129Phe) c.3351G>C (p.Leu1117Phe) | |
| 1 | g.10339775G= | CA1153183393 | KIF1B | c.3291G= (p.Leu1097=) c.3354G= (p.Leu1118=) c.3429G= (p.Leu1143=) c.3387G= (p.Leu1129=) c.3351G= (p.Leu1117=) | |
| 1 | g.10339775G>T | CA338340896 | KIF1B | c.3291G>T (p.Leu1097Phe) c.3354G>T (p.Leu1118Phe) c.3429G>T (p.Leu1143Phe) c.3387G>T (p.Leu1129Phe) c.3351G>T (p.Leu1117Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.10339776C>A | CA338340901 | KIF1B | c.3292C>A (p.His1098Asn) c.3355C>A (p.His1119Asn) c.3430C>A (p.His1144Asn) c.3388C>A (p.His1130Asn) c.3352C>A (p.His1118Asn) | |
| 1 | g.10339776C= | CA1153183399 | KIF1B | c.3292C= (p.His1098=) c.3355C= (p.His1119=) c.3430C= (p.His1144=) c.3388C= (p.His1130=) c.3352C= (p.His1118=) | |
| 1 | g.10339776C>G | CA338340898 | KIF1B | c.3292C>G (p.His1098Asp) c.3355C>G (p.His1119Asp) c.3430C>G (p.His1144Asp) c.3388C>G (p.His1130Asp) c.3352C>G (p.His1118Asp) | |
| 1 | g.10339776C>T | CA338340900 | KIF1B | c.3292C>T (p.His1098Tyr) c.3355C>T (p.His1119Tyr) c.3430C>T (p.His1144Tyr) c.3388C>T (p.His1130Tyr) c.3352C>T (p.His1118Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.10339777A= | CA1153183409 | KIF1B | c.3293A= (p.His1098=) c.3356A= (p.His1119=) c.3431A= (p.His1144=) c.3389A= (p.His1130=) c.3353A= (p.His1118=) | |
| 1 | g.10339777A>C | CA338340903 | KIF1B | c.3293A>C (p.His1098Pro) c.3356A>C (p.His1119Pro) c.3431A>C (p.His1144Pro) c.3389A>C (p.His1130Pro) c.3353A>C (p.His1118Pro) | |
| 1 | g.10339777A>G | CA581782 | KIF1B | c.3293A>G (p.His1098Arg) c.3356A>G (p.His1119Arg) c.3431A>G (p.His1144Arg) c.3389A>G (p.His1130Arg) c.3353A>G (p.His1118Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.10339777A>T | CA338340906 | KIF1B | c.3293A>T (p.His1098Leu) c.3356A>T (p.His1119Leu) c.3431A>T (p.His1144Leu) c.3389A>T (p.His1130Leu) c.3353A>T (p.His1118Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.10339778T>A | CA338340907 | KIF1B | c.3294T>A (p.His1098Gln) c.3357T>A (p.His1119Gln) c.3432T>A (p.His1144Gln) c.3390T>A (p.His1130Gln) c.3354T>A (p.His1118Gln) | |
| 1 | g.10339778T>C | CA415883884 | KIF1B | c.3294T>C (p.His1098=) c.3357T>C (p.His1119=) c.3432T>C (p.His1144=) c.3390T>C (p.His1130=) c.3354T>C (p.His1118=) | dbSNP |
| 1 | g.10339778T>G | CA338340908 | KIF1B | c.3294T>G (p.His1098Gln) c.3357T>G (p.His1119Gln) c.3432T>G (p.His1144Gln) c.3390T>G (p.His1130Gln) c.3354T>G (p.His1118Gln) | |
| 1 | g.10339778T= | CA1153183419 | KIF1B | c.3294T= (p.His1098=) c.3357T= (p.His1119=) c.3432T= (p.His1144=) c.3390T= (p.His1130=) c.3354T= (p.His1118=) | |
| 1 | g.10339779C>A | CA338340909 | KIF1B | c.3295C>A (p.Arg1099Ser) c.3358C>A (p.Arg1120Ser) c.3433C>A (p.Arg1145Ser) c.3391C>A (p.Arg1131Ser) c.3355C>A (p.Arg1119Ser) | |
| 1 | g.10339779C= | CA1153183420 | KIF1B | c.3295C= (p.Arg1099=) c.3358C= (p.Arg1120=) c.3433C= (p.Arg1145=) c.3391C= (p.Arg1131=) c.3355C= (p.Arg1119=) | |
| 1 | g.10339779C>G | CA338340910 | KIF1B | c.3295C>G (p.Arg1099Gly) c.3358C>G (p.Arg1120Gly) c.3433C>G (p.Arg1145Gly) c.3391C>G (p.Arg1131Gly) c.3355C>G (p.Arg1119Gly) | |
| 1 | g.10339779C>T | CA338340912 | KIF1B | c.3295C>T (p.Arg1099Cys) c.3358C>T (p.Arg1120Cys) c.3433C>T (p.Arg1145Cys) c.3391C>T (p.Arg1131Cys) c.3355C>T (p.Arg1119Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10339780G>A | CA581783 | KIF1B | c.3296G>A (p.Arg1099His) c.3359G>A (p.Arg1120His) c.3434G>A (p.Arg1145His) c.3392G>A (p.Arg1131His) c.3356G>A (p.Arg1119His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.10339780G>C | CA338340914 | KIF1B | c.3296G>C (p.Arg1099Pro) c.3359G>C (p.Arg1120Pro) c.3434G>C (p.Arg1145Pro) c.3392G>C (p.Arg1131Pro) c.3356G>C (p.Arg1119Pro) | |
| 1 | g.10339780G= | CA1143942846 | KIF1B | c.3296G= (p.Arg1099=) c.3359G= (p.Arg1120=) c.3434G= (p.Arg1145=) c.3392G= (p.Arg1131=) c.3356G= (p.Arg1119=) | |
| 1 | g.10339780G>T | CA338340915 | KIF1B | c.3296G>T (p.Arg1099Leu) c.3359G>T (p.Arg1120Leu) c.3434G>T (p.Arg1145Leu) c.3392G>T (p.Arg1131Leu) c.3356G>T (p.Arg1119Leu) | dbSNP |
| 1 | g.10339781C>A | CA415883886 | KIF1B | c.3297C>A (p.Arg1099=) c.3360C>A (p.Arg1120=) c.3435C>A (p.Arg1145=) c.3393C>A (p.Arg1131=) c.3357C>A (p.Arg1119=) |