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 |
|---|---|---|---|---|---|
| 9 | g.133353882G>A | CA375694395 | SURF1 | c.382C>T (p.His128Tyr) n.328C>T n.372C>T c.55C>T (p.His19Tyr) | dbSNP |
| 9 | g.133353882G>C | CA375694396 | SURF1 | c.382C>G (p.His128Asp) n.328C>G n.372C>G c.55C>G (p.His19Asp) | |
| 9 | g.133353882G>T | CA375694397 | SURF1 | c.382C>A (p.His128Asn) n.328C>A n.372C>A c.55C>A (p.His19Asn) | |
| 9 | g.133353882_133353884delinsAGG | CA322599 | SURF1 | c.380_382delinsCCT (p.Asp127_His128delinsAlaTyr) n.326_328delinsCCT n.370_372delinsCCT c.53_55delinsCCT (p.Asp18_His19delinsAlaTyr) | ClinVar dbSNP |
| 9 | g.133353882_133353884delinsGGT | CA1882635734 | SURF1 | c.380_382delinsACC (p.Asp127=) n.326_328delinsACC n.370_372delinsACC c.53_55delinsACC (p.Asp18=) | |
| 9 | g.133353883G>A | CA2692340598 | SURF1 | c.381C>T (p.Asp127=) n.327C>T n.371C>T c.54C>T (p.Asp18=) | gnomAD v4 |
| 9 | g.133353883G>C | CA375694398 | SURF1 | c.381C>G (p.Asp127Glu) n.327C>G n.371C>G c.54C>G (p.Asp18Glu) | |
| 9 | g.133353883G>T | CA375694399 | SURF1 | c.381C>A (p.Asp127Glu) n.327C>A n.371C>A c.54C>A (p.Asp18Glu) | |
| 9 | g.133353884T>A | CA375694400 | SURF1 | c.380A>T (p.Asp127Val) n.326A>T n.370A>T c.53A>T (p.Asp18Val) | |
| 9 | g.133353884T>C | CA375694401 | SURF1 | c.380A>G (p.Asp127Gly) n.326A>G n.370A>G c.53A>G (p.Asp18Gly) | |
| 9 | g.133353884T>G | CA200833049 | SURF1 | c.380A>C (p.Asp127Ala) n.326A>C n.370A>C c.53A>C (p.Asp18Ala) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133353884T= | CA1882635737 | SURF1 | c.380A= (p.Asp127=) n.326A= n.370A= c.53A= (p.Asp18=) | |
| 9 | g.133353885C>A | CA375694404 | SURF1 | c.379G>T (p.Asp127Tyr) n.325G>T n.369G>T c.52G>T (p.Asp18Tyr) | |
| 9 | g.133353885C>G | CA375694402 | SURF1 | c.379G>C (p.Asp127His) n.325G>C n.369G>C c.52G>C (p.Asp18His) | gnomAD v4 |
| 9 | g.133353885C>T | CA375694403 | SURF1 | c.379G>A (p.Asp127Asn) n.325G>A n.369G>A c.52G>A (p.Asp18Asn) | |
| 9 | g.133353886A= | CA1882635739 | SURF1 | c.378T= (p.Phe126=) n.324T= n.368T= c.51T= (p.Phe17=) | |
| 9 | g.133353886A>C | CA375694405 | SURF1 | c.378T>G (p.Phe126Leu) n.324T>G n.368T>G c.51T>G (p.Phe17Leu) | ClinVar dbSNP |
| 9 | g.133353886A>T | CA375694406 | SURF1 | c.378T>A (p.Phe126Leu) n.324T>A n.368T>A c.51T>A (p.Phe17Leu) | |
| 9 | g.133353887A>C | CA375694407 | SURF1 | c.377T>G (p.Phe126Cys) n.323T>G n.367T>G c.50T>G (p.Phe17Cys) | |
| 9 | g.133353887A>G | CA375694408 | SURF1 | c.377T>C (p.Phe126Ser) n.323T>C n.367T>C c.50T>C (p.Phe17Ser) | |
| 9 | g.133353887A>T | CA375694409 | SURF1 | c.377T>A (p.Phe126Tyr) n.323T>A n.367T>A c.50T>A (p.Phe17Tyr) | gnomAD v4 |
| 9 | g.133353888A>C | CA375694410 | SURF1 | c.376T>G (p.Phe126Val) n.322T>G n.366T>G c.49T>G (p.Phe17Val) | |
| 9 | g.133353888A>G | CA375694411 | SURF1 | c.376T>C (p.Phe126Leu) n.322T>C n.366T>C c.49T>C (p.Phe17Leu) | |
| 9 | g.133353888A>T | CA375694412 | SURF1 | c.376T>A (p.Phe126Ile) n.322T>A n.366T>A c.49T>A (p.Phe17Ile) | |
| 9 | g.133353889G>C | CA200833051 | SURF1 | c.375C>G (p.Cys125Trp) n.321C>G n.365C>G c.48C>G (p.Cys16Trp) | dbSNP |
| 9 | g.133353889G= | CA1882635741 | SURF1 | c.375C= (p.Cys125=) n.321C= n.365C= c.48C= (p.Cys16=) | |
| 9 | g.133353889G>T | CA375694413 | SURF1 | c.375C>A (p.Cys125Ter) n.321C>A n.365C>A c.48C>A (p.Cys16Ter) | |
| 9 | g.133353890C>A | CA375694416 | SURF1 | c.374G>T (p.Cys125Phe) n.320G>T n.364G>T c.47G>T (p.Cys16Phe) | |
| 9 | g.133353890C>G | CA375694414 | SURF1 | c.374G>C (p.Cys125Ser) n.320G>C n.364G>C c.47G>C (p.Cys16Ser) | |
| 9 | g.133353890C>T | CA375694415 | SURF1 | c.374G>A (p.Cys125Tyr) n.320G>A n.364G>A c.47G>A (p.Cys16Tyr) | |
| 9 | g.133353891A>C | CA375694417 | SURF1 | c.373T>G (p.Cys125Gly) n.319T>G n.363T>G c.46T>G (p.Cys16Gly) | |
| 9 | g.133353891A>G | CA375694418 | SURF1 | c.373T>C (p.Cys125Arg) n.319T>C n.363T>C c.46T>C (p.Cys16Arg) | |
| 9 | g.133353891A>T | CA375694419 | SURF1 | c.373T>A (p.Cys125Ser) n.319T>A n.363T>A c.46T>A (p.Cys16Ser) | |
| 9 | g.133353892C>A | CA860709497 | SURF1 | c.372G>T (p.Gly124=) n.318G>T n.362G>T c.45G>T (p.Gly15=) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133353892C= | CA1882635743 | SURF1 | c.372G= (p.Gly124=) n.318G= n.362G= c.45G= (p.Gly15=) | |
| 9 | g.133353892C>G | CA2692340646 | SURF1 | c.372G>C (p.Gly124=) n.318G>C n.362G>C c.45G>C (p.Gly15=) | gnomAD v4 |
| 9 | g.133353892C>T | CA200833053 | SURF1 | c.372G>A (p.Gly124=) n.318G>A n.362G>A c.45G>A (p.Gly15=) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133353896dup | CA2786166205 | SURF1 | c.372dup (p.Cys125ValfsTer3) n.318dup n.362dup c.45dup (p.Cys16ValfsTer3) | |
| 9 | g.133353893C>A | CA375694420 | SURF1 | c.371G>T (p.Gly124Val) n.317G>T n.361G>T c.44G>T (p.Gly15Val) | |
| 9 | g.133353893C= | CA1882635746 | SURF1 | c.371G= (p.Gly124=) n.317G= n.361G= c.44G= (p.Gly15=) | |
| 9 | g.133353893C>G | CA375694421 | SURF1 | c.371G>C (p.Gly124Ala) n.317G>C n.361G>C c.44G>C (p.Gly15Ala) | |
| 9 | g.133353893C>T | CA122697 | SURF1 | c.371G>A (p.Gly124Glu) n.317G>A n.361G>A c.44G>A (p.Gly15Glu) | ClinVar dbSNP dbSNP |
| 9 | g.133353894C>A | CA375694422 | SURF1 | c.370G>T (p.Gly124Trp) n.316G>T n.360G>T c.43G>T (p.Gly15Trp) | |
| 9 | g.133353894C= | CA1882635750 | SURF1 | c.370G= (p.Gly124=) n.316G= n.360G= c.43G= (p.Gly15=) | |
| 9 | g.133353894C>G | CA375694423 | SURF1 | c.370G>C (p.Gly124Arg) n.316G>C n.360G>C c.43G>C (p.Gly15Arg) | |
| 9 | g.133353894C>T | CA200833060 | SURF1 | c.370G>A (p.Gly124Arg) n.316G>A n.360G>A c.43G>A (p.Gly15Arg) | dbSNP gnomAD v4 |
| 9 | g.133353895C>A | CA375694424 | SURF1 | c.369G>T (p.Arg123Ser) n.315G>T n.359G>T c.42G>T (p.Arg14Ser) | |
| 9 | g.133353895C= | CA1882635754 | SURF1 | c.369G= (p.Arg123=) n.315G= n.359G= c.42G= (p.Arg14=) | |
| 9 | g.133353895C>G | CA200833062 | SURF1 | c.369G>C (p.Arg123Ser) n.315G>C n.359G>C c.42G>C (p.Arg14Ser) | ClinVar dbSNP gnomAD v4 |
| 9 | g.133353896C>A | CA375694426 | SURF1 | c.368G>T (p.Arg123Met) n.314G>T n.358G>T c.41G>T (p.Arg14Met) |