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.10348669A= | CA1141661997 | KIF1B | c.3948A= (p.Thr1316=) c.3810A= (p.Thr1270=) c.3885A= (p.Thr1295=) c.3747A= (p.Thr1249=) n.340A= n.421A= c.3843A= (p.Thr1281=) c.3807A= (p.Thr1269=) | |
| 1 | g.10348669A>C | CA581915 | KIF1B | c.3948A>C (p.Thr1316=) c.3810A>C (p.Thr1270=) c.3885A>C (p.Thr1295=) c.3747A>C (p.Thr1249=) n.340A>C n.421A>C c.3843A>C (p.Thr1281=) c.3807A>C (p.Thr1269=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10348669A>G | CA17846259 | KIF1B | c.3948A>G (p.Thr1316=) c.3810A>G (p.Thr1270=) c.3885A>G (p.Thr1295=) c.3747A>G (p.Thr1249=) n.340A>G n.421A>G c.3843A>G (p.Thr1281=) c.3807A>G (p.Thr1269=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.10348669A>T | CA415885344 | KIF1B | c.3948A>T (p.Thr1316=) c.3810A>T (p.Thr1270=) c.3885A>T (p.Thr1295=) c.3747A>T (p.Thr1249=) n.340A>T n.421A>T c.3843A>T (p.Thr1281=) c.3807A>T (p.Thr1269=) | |
| 1 | g.10348670G>A | CA338343563 | KIF1B | c.3949G>A (p.Val1317Met) c.3811G>A (p.Val1271Met) c.3886G>A (p.Val1296Met) c.3748G>A (p.Val1250Met) n.341G>A n.422G>A c.3844G>A (p.Val1282Met) c.3808G>A (p.Val1270Met) | |
| 1 | g.10348670G>C | CA581916 | KIF1B | c.3949G>C (p.Val1317Leu) c.3811G>C (p.Val1271Leu) c.3886G>C (p.Val1296Leu) c.3748G>C (p.Val1250Leu) n.341G>C n.422G>C c.3844G>C (p.Val1282Leu) c.3808G>C (p.Val1270Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10348670G= | CA1148258932 | KIF1B | c.3949G= (p.Val1317=) c.3811G= (p.Val1271=) c.3886G= (p.Val1296=) c.3748G= (p.Val1250=) n.341G= n.422G= c.3844G= (p.Val1282=) c.3808G= (p.Val1270=) | |
| 1 | g.10348670G>T | CA338343565 | KIF1B | c.3949G>T (p.Val1317Leu) c.3811G>T (p.Val1271Leu) c.3886G>T (p.Val1296Leu) c.3748G>T (p.Val1250Leu) n.341G>T n.422G>T c.3844G>T (p.Val1282Leu) c.3808G>T (p.Val1270Leu) | |
| 1 | g.10348671T>A | CA338343567 | KIF1B | c.3950T>A (p.Val1317Glu) c.3812T>A (p.Val1271Glu) c.3887T>A (p.Val1296Glu) c.3749T>A (p.Val1250Glu) n.342T>A n.423T>A c.3845T>A (p.Val1282Glu) c.3809T>A (p.Val1270Glu) | |
| 1 | g.10348671T>C | CA338343568 | KIF1B | c.3950T>C (p.Val1317Ala) c.3812T>C (p.Val1271Ala) c.3887T>C (p.Val1296Ala) c.3749T>C (p.Val1250Ala) n.342T>C n.423T>C c.3845T>C (p.Val1282Ala) c.3809T>C (p.Val1270Ala) | |
| 1 | g.10348671T>G | CA338343572 | KIF1B | c.3950T>G (p.Val1317Gly) c.3812T>G (p.Val1271Gly) c.3887T>G (p.Val1296Gly) c.3749T>G (p.Val1250Gly) n.342T>G n.423T>G c.3845T>G (p.Val1282Gly) c.3809T>G (p.Val1270Gly) | |
| 1 | g.10348672G>A | CA415885345 | KIF1B | c.3951G>A (p.Val1317=) c.3813G>A (p.Val1271=) c.3888G>A (p.Val1296=) c.3750G>A (p.Val1250=) n.343G>A n.424G>A c.3846G>A (p.Val1282=) c.3810G>A (p.Val1270=) | |
| 1 | g.10348672G>C | CA415885346 | KIF1B | c.3951G>C (p.Val1317=) c.3813G>C (p.Val1271=) c.3888G>C (p.Val1296=) c.3750G>C (p.Val1250=) n.343G>C n.424G>C c.3846G>C (p.Val1282=) c.3810G>C (p.Val1270=) | |
| 1 | g.10348672G= | CA1153147272 | KIF1B | c.3951G= (p.Val1317=) c.3813G= (p.Val1271=) c.3888G= (p.Val1296=) c.3750G= (p.Val1250=) n.343G= n.424G= c.3846G= (p.Val1282=) c.3810G= (p.Val1270=) | |
| 1 | g.10348672G>T | CA415885347 | KIF1B | c.3951G>T (p.Val1317=) c.3813G>T (p.Val1271=) c.3888G>T (p.Val1296=) c.3750G>T (p.Val1250=) n.343G>T n.424G>T c.3846G>T (p.Val1282=) c.3810G>T (p.Val1270=) | dbSNP gnomAD v4 |
| 1 | g.10348673A>C | CA338343575 | KIF1B | c.3952A>C (p.Thr1318Pro) c.3814A>C (p.Thr1272Pro) c.3889A>C (p.Thr1297Pro) c.3751A>C (p.Thr1251Pro) n.344A>C n.425A>C c.3847A>C (p.Thr1283Pro) c.3811A>C (p.Thr1271Pro) | |
| 1 | g.10348673A>G | CA338343576 | KIF1B | c.3952A>G (p.Thr1318Ala) c.3814A>G (p.Thr1272Ala) c.3889A>G (p.Thr1297Ala) c.3751A>G (p.Thr1251Ala) n.344A>G n.425A>G c.3847A>G (p.Thr1283Ala) c.3811A>G (p.Thr1271Ala) | |
| 1 | g.10348673A>T | CA338343573 | KIF1B | c.3952A>T (p.Thr1318Ser) c.3814A>T (p.Thr1272Ser) c.3889A>T (p.Thr1297Ser) c.3751A>T (p.Thr1251Ser) n.344A>T n.425A>T c.3847A>T (p.Thr1283Ser) c.3811A>T (p.Thr1271Ser) | |
| 1 | g.10348674C>A | CA338343577 | KIF1B | c.3953C>A (p.Thr1318Asn) c.3815C>A (p.Thr1272Asn) c.3890C>A (p.Thr1297Asn) c.3752C>A (p.Thr1251Asn) n.345C>A n.426C>A c.3848C>A (p.Thr1283Asn) c.3812C>A (p.Thr1271Asn) | |
| 1 | g.10348674C= | CA1153147273 | KIF1B | c.3953C= (p.Thr1318=) c.3815C= (p.Thr1272=) c.3890C= (p.Thr1297=) c.3752C= (p.Thr1251=) n.345C= n.426C= c.3848C= (p.Thr1283=) c.3812C= (p.Thr1271=) | |
| 1 | g.10348674C>G | CA338343578 | KIF1B | c.3953C>G (p.Thr1318Ser) c.3815C>G (p.Thr1272Ser) c.3890C>G (p.Thr1297Ser) c.3752C>G (p.Thr1251Ser) n.345C>G n.426C>G c.3848C>G (p.Thr1283Ser) c.3812C>G (p.Thr1271Ser) | |
| 1 | g.10348674C>T | CA338343579 | KIF1B | c.3953C>T (p.Thr1318Ile) c.3815C>T (p.Thr1272Ile) c.3890C>T (p.Thr1297Ile) c.3752C>T (p.Thr1251Ile) n.345C>T n.426C>T c.3848C>T (p.Thr1283Ile) c.3812C>T (p.Thr1271Ile) | ClinVar dbSNP |
| 1 | g.10348675C>A | CA415885348 | KIF1B | c.3954C>A (p.Thr1318=) c.3816C>A (p.Thr1272=) c.3891C>A (p.Thr1297=) c.3753C>A (p.Thr1251=) n.346C>A n.427C>A c.3849C>A (p.Thr1283=) c.3813C>A (p.Thr1271=) | |
| 1 | g.10348675C= | CA1153147274 | KIF1B | c.3954C= (p.Thr1318=) c.3816C= (p.Thr1272=) c.3891C= (p.Thr1297=) c.3753C= (p.Thr1251=) n.346C= n.427C= c.3849C= (p.Thr1283=) c.3813C= (p.Thr1271=) | |
| 1 | g.10348675C>G | CA415885349 | KIF1B | c.3954C>G (p.Thr1318=) c.3816C>G (p.Thr1272=) c.3891C>G (p.Thr1297=) c.3753C>G (p.Thr1251=) n.346C>G n.427C>G c.3849C>G (p.Thr1283=) c.3813C>G (p.Thr1271=) | |
| 1 | g.10348675C>T | CA415885350 | KIF1B | c.3954C>T (p.Thr1318=) c.3816C>T (p.Thr1272=) c.3891C>T (p.Thr1297=) c.3753C>T (p.Thr1251=) n.346C>T n.427C>T c.3849C>T (p.Thr1283=) c.3813C>T (p.Thr1271=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.10348676A= | CA1144428271 | KIF1B | c.3955A= (p.Ile1319=) c.3817A= (p.Ile1273=) c.3892A= (p.Ile1298=) c.3754A= (p.Ile1252=) n.347A= n.428A= c.3850A= (p.Ile1284=) c.3814A= (p.Ile1272=) | |
| 1 | g.10348676A>C | CA338343580 | KIF1B | c.3955A>C (p.Ile1319Leu) c.3817A>C (p.Ile1273Leu) c.3892A>C (p.Ile1298Leu) c.3754A>C (p.Ile1252Leu) n.347A>C n.428A>C c.3850A>C (p.Ile1284Leu) c.3814A>C (p.Ile1272Leu) | |
| 1 | g.10348676A>G | CA17846272 | KIF1B | c.3955A>G (p.Ile1319Val) c.3817A>G (p.Ile1273Val) c.3892A>G (p.Ile1298Val) c.3754A>G (p.Ile1252Val) n.347A>G n.428A>G c.3850A>G (p.Ile1284Val) c.3814A>G (p.Ile1272Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.10348676A>T | CA338343584 | KIF1B | c.3955A>T (p.Ile1319Phe) c.3817A>T (p.Ile1273Phe) c.3892A>T (p.Ile1298Phe) c.3754A>T (p.Ile1252Phe) n.347A>T n.428A>T c.3850A>T (p.Ile1284Phe) c.3814A>T (p.Ile1272Phe) | gnomAD v4 |
| 1 | g.10348677T>A | CA338343587 | KIF1B | c.3956T>A (p.Ile1319Asn) c.3818T>A (p.Ile1273Asn) c.3893T>A (p.Ile1298Asn) c.3755T>A (p.Ile1252Asn) n.348T>A n.429T>A c.3851T>A (p.Ile1284Asn) c.3815T>A (p.Ile1272Asn) | |
| 1 | g.10348677T>C | CA338343588 | KIF1B | c.3956T>C (p.Ile1319Thr) c.3818T>C (p.Ile1273Thr) c.3893T>C (p.Ile1298Thr) c.3755T>C (p.Ile1252Thr) n.348T>C n.429T>C c.3851T>C (p.Ile1284Thr) c.3815T>C (p.Ile1272Thr) | ClinVar |
| 1 | g.10348677T>G | CA338343591 | KIF1B | c.3956T>G (p.Ile1319Ser) c.3818T>G (p.Ile1273Ser) c.3893T>G (p.Ile1298Ser) c.3755T>G (p.Ile1252Ser) n.348T>G n.429T>G c.3851T>G (p.Ile1284Ser) c.3815T>G (p.Ile1272Ser) | |
| 1 | g.10348678T>A | CA415885351 | KIF1B | c.3957T>A (p.Ile1319=) c.3819T>A (p.Ile1273=) c.3894T>A (p.Ile1298=) c.3756T>A (p.Ile1252=) n.349T>A n.430T>A c.3852T>A (p.Ile1284=) c.3816T>A (p.Ile1272=) | |
| 1 | g.10348678T>C | CA415885352 | KIF1B | c.3957T>C (p.Ile1319=) c.3819T>C (p.Ile1273=) c.3894T>C (p.Ile1298=) c.3756T>C (p.Ile1252=) n.349T>C n.430T>C c.3852T>C (p.Ile1284=) c.3816T>C (p.Ile1272=) | gnomAD v4 |
| 1 | g.10348678T>G | CA338343594 | KIF1B | c.3957T>G (p.Ile1319Met) c.3819T>G (p.Ile1273Met) c.3894T>G (p.Ile1298Met) c.3756T>G (p.Ile1252Met) n.349T>G n.430T>G c.3852T>G (p.Ile1284Met) c.3816T>G (p.Ile1272Met) | |
| 1 | g.10348679A>C | CA338343597 | KIF1B | c.3958A>C (p.Ile1320Leu) c.3820A>C (p.Ile1274Leu) c.3895A>C (p.Ile1299Leu) c.3757A>C (p.Ile1253Leu) n.350A>C n.431A>C c.3853A>C (p.Ile1285Leu) c.3817A>C (p.Ile1273Leu) | |
| 1 | g.10348679A>G | CA338343598 | KIF1B | c.3958A>G (p.Ile1320Val) c.3820A>G (p.Ile1274Val) c.3895A>G (p.Ile1299Val) c.3757A>G (p.Ile1253Val) n.350A>G n.431A>G c.3853A>G (p.Ile1285Val) c.3817A>G (p.Ile1273Val) | ClinVar |
| 1 | g.10348679A>T | CA338343600 | KIF1B | c.3958A>T (p.Ile1320Phe) c.3820A>T (p.Ile1274Phe) c.3895A>T (p.Ile1299Phe) c.3757A>T (p.Ile1253Phe) n.350A>T n.431A>T c.3853A>T (p.Ile1285Phe) c.3817A>T (p.Ile1273Phe) | |
| 1 | g.10348680T>A | CA338343605 | KIF1B | c.3959T>A (p.Ile1320Asn) c.3821T>A (p.Ile1274Asn) c.3896T>A (p.Ile1299Asn) c.3758T>A (p.Ile1253Asn) n.351T>A n.432T>A c.3854T>A (p.Ile1285Asn) c.3818T>A (p.Ile1273Asn) | gnomAD v4 |
| 1 | g.10348680T>C | CA338343603 | KIF1B | c.3959T>C (p.Ile1320Thr) c.3821T>C (p.Ile1274Thr) c.3896T>C (p.Ile1299Thr) c.3758T>C (p.Ile1253Thr) n.351T>C n.432T>C c.3854T>C (p.Ile1285Thr) c.3818T>C (p.Ile1273Thr) | |
| 1 | g.10348680T>G | CA338343602 | KIF1B | c.3959T>G (p.Ile1320Ser) c.3821T>G (p.Ile1274Ser) c.3896T>G (p.Ile1299Ser) c.3758T>G (p.Ile1253Ser) n.351T>G n.432T>G c.3854T>G (p.Ile1285Ser) c.3818T>G (p.Ile1273Ser) | |
| 1 | g.10348681C>A | CA415885353 | KIF1B | c.3960C>A (p.Ile1320=) c.3822C>A (p.Ile1274=) c.3897C>A (p.Ile1299=) c.3759C>A (p.Ile1253=) n.352C>A n.433C>A c.3855C>A (p.Ile1285=) c.3819C>A (p.Ile1273=) | |
| 1 | g.10348681C= | CA1142006365 | KIF1B | c.3960C= (p.Ile1320=) c.3822C= (p.Ile1274=) c.3897C= (p.Ile1299=) c.3759C= (p.Ile1253=) n.352C= n.433C= c.3855C= (p.Ile1285=) c.3819C= (p.Ile1273=) | |
| 1 | g.10348681C>G | CA338343607 | KIF1B | c.3960C>G (p.Ile1320Met) c.3822C>G (p.Ile1274Met) c.3897C>G (p.Ile1299Met) c.3759C>G (p.Ile1253Met) n.352C>G n.433C>G c.3855C>G (p.Ile1285Met) c.3819C>G (p.Ile1273Met) | gnomAD v4 |
| 1 | g.10348681C>T | CA581917 | KIF1B | c.3960C>T (p.Ile1320=) c.3822C>T (p.Ile1274=) c.3897C>T (p.Ile1299=) c.3759C>T (p.Ile1253=) n.352C>T n.433C>T c.3855C>T (p.Ile1285=) c.3819C>T (p.Ile1273=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.10348682C>A | CA338343610 | KIF1B | c.3961C>A (p.His1321Asn) c.3823C>A (p.His1275Asn) c.3898C>A (p.His1300Asn) c.3760C>A (p.His1254Asn) n.353C>A n.434C>A c.3856C>A (p.His1286Asn) c.3820C>A (p.His1274Asn) | |
| 1 | g.10348682C>G | CA338343613 | KIF1B | c.3961C>G (p.His1321Asp) c.3823C>G (p.His1275Asp) c.3898C>G (p.His1300Asp) c.3760C>G (p.His1254Asp) n.353C>G n.434C>G c.3856C>G (p.His1286Asp) c.3820C>G (p.His1274Asp) | |
| 1 | g.10348682C>T | CA338343616 | KIF1B | c.3961C>T (p.His1321Tyr) c.3823C>T (p.His1275Tyr) c.3898C>T (p.His1300Tyr) c.3760C>T (p.His1254Tyr) n.353C>T n.434C>T c.3856C>T (p.His1286Tyr) c.3820C>T (p.His1274Tyr) | |
| 1 | g.10348683A>C | CA338343620 | KIF1B | c.3962A>C (p.His1321Pro) c.3824A>C (p.His1275Pro) c.3899A>C (p.His1300Pro) c.3761A>C (p.His1254Pro) n.354A>C n.435A>C c.3857A>C (p.His1286Pro) c.3821A>C (p.His1274Pro) |