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 |
|---|---|---|---|---|---|
| 2 | g.189575205C>A | CA349989690 | SLC40A1 | c.227G>T (p.Gly76Val) n.668G>T n.508G>T c.107G>T (p.Gly36Val) | |
| 2 | g.189575205C>G | CA349989689 | SLC40A1 | c.227G>C (p.Gly76Ala) n.668G>C n.508G>C c.107G>C (p.Gly36Ala) | |
| 2 | g.189575205C>T | CA349989688 | SLC40A1 | c.227G>A (p.Gly76Glu) n.668G>A n.508G>A c.107G>A (p.Gly36Glu) | COSMIC |
| 2 | g.189575206C>A | CA349989691 | SLC40A1 | c.226G>T (p.Gly76Ter) n.667G>T n.507G>T c.106G>T (p.Gly36Ter) | |
| 2 | g.189575206C>G | CA349989692 | SLC40A1 | c.226G>C (p.Gly76Arg) n.667G>C n.507G>C c.106G>C (p.Gly36Arg) | |
| 2 | g.189575206C>T | CA349989693 | SLC40A1 | c.226G>A (p.Gly76Arg) n.667G>A n.507G>A c.106G>A (p.Gly36Arg) | |
| 2 | g.189575207C>A | CA430367511 | SLC40A1 | c.225G>T (p.Leu75=) n.666G>T n.506G>T c.105G>T (p.Leu35=) | |
| 2 | g.189575207C>G | CA430367512 | SLC40A1 | c.225G>C (p.Leu75=) n.666G>C n.506G>C c.105G>C (p.Leu35=) | COSMIC |
| 2 | g.189575207C>T | CA430367513 | SLC40A1 | c.225G>A (p.Leu75=) n.666G>A n.506G>A c.105G>A (p.Leu35=) | |
| 2 | g.189575208A= | CA1315653699 | SLC40A1 | c.224T= (p.Leu75=) n.665T= n.505T= c.104T= (p.Leu35=) | |
| 2 | g.189575208A>C | CA349989694 | SLC40A1 | c.224T>G (p.Leu75Arg) n.665T>G n.505T>G c.104T>G (p.Leu35Arg) | |
| 2 | g.189575208A>G | CA62904037 | SLC40A1 | c.224T>C (p.Leu75Pro) n.665T>C n.505T>C c.104T>C (p.Leu35Pro) | dbSNP |
| 2 | g.189575208A>T | CA349989695 | SLC40A1 | c.224T>A (p.Leu75Gln) n.665T>A n.505T>A c.104T>A (p.Leu35Gln) | |
| 2 | g.189575209G>A | CA430367514 | SLC40A1 | c.223C>T (p.Leu75=) n.664C>T n.504C>T c.103C>T (p.Leu35=) | |
| 2 | g.189575209G>C | CA349989696 | SLC40A1 | c.223C>G (p.Leu75Val) n.664C>G n.504C>G c.103C>G (p.Leu35Val) | COSMIC |
| 2 | g.189575209G>T | CA349989697 | SLC40A1 | c.223C>A (p.Leu75Met) n.664C>A n.504C>A c.103C>A (p.Leu35Met) | |
| 2 | g.189575210G>A | CA430367515 | SLC40A1 | c.222C>T (p.Val74=) n.663C>T n.503C>T c.102C>T (p.Val34=) | |
| 2 | g.189575210G>C | CA430367516 | SLC40A1 | c.222C>G (p.Val74=) n.663C>G n.503C>G c.102C>G (p.Val34=) | |
| 2 | g.189575210G>T | CA430367517 | SLC40A1 | c.222C>A (p.Val74=) n.663C>A n.503C>A c.102C>A (p.Val34=) | |
| 2 | g.189575211A>C | CA349989698 | SLC40A1 | c.221T>G (p.Val74Gly) n.662T>G n.502T>G c.101T>G (p.Val34Gly) | |
| 2 | g.189575211A>G | CA349989699 | SLC40A1 | c.221T>C (p.Val74Ala) n.662T>C n.502T>C c.101T>C (p.Val34Ala) | |
| 2 | g.189575211A>T | CA349989700 | SLC40A1 | c.221T>A (p.Val74Asp) n.662T>A n.502T>A c.101T>A (p.Val34Asp) | |
| 2 | g.189575212C>A | CA349989701 | SLC40A1 | c.220G>T (p.Val74Phe) n.661G>T n.501G>T c.100G>T (p.Val34Phe) | |
| 2 | g.189575212C>G | CA349989702 | SLC40A1 | c.220G>C (p.Val74Leu) n.661G>C n.501G>C c.100G>C (p.Val34Leu) | |
| 2 | g.189575212C>T | CA349989703 | SLC40A1 | c.220G>A (p.Val74Ile) n.661G>A n.501G>A c.100G>A (p.Val34Ile) | |
| 2 | g.189575213C>A | CA430367518 | SLC40A1 | c.219G>T (p.Leu73=) n.660G>T n.500G>T c.99G>T (p.Leu33=) | |
| 2 | g.189575213C>G | CA430367520 | SLC40A1 | c.219G>C (p.Leu73=) n.660G>C n.500G>C c.99G>C (p.Leu33=) | |
| 2 | g.189575213C>T | CA430367519 | SLC40A1 | c.219G>A (p.Leu73=) n.660G>A n.500G>A c.99G>A (p.Leu33=) | |
| 2 | g.189575214A>C | CA349989705 | SLC40A1 | c.218T>G (p.Leu73Arg) n.659T>G n.499T>G c.98T>G (p.Leu33Arg) | |
| 2 | g.189575214A>G | CA349989706 | SLC40A1 | c.218T>C (p.Leu73Pro) n.659T>C n.499T>C c.98T>C (p.Leu33Pro) | |
| 2 | g.189575214A>T | CA349989704 | SLC40A1 | c.218T>A (p.Leu73Gln) n.659T>A n.499T>A c.98T>A (p.Leu33Gln) | |
| 2 | g.189575215G>A | CA430367521 | SLC40A1 | c.217C>T (p.Leu73=) n.658C>T n.498C>T c.97C>T (p.Leu33=) | |
| 2 | g.189575215G>C | CA349989707 | SLC40A1 | c.217C>G (p.Leu73Val) n.658C>G n.498C>G c.97C>G (p.Leu33Val) | COSMIC |
| 2 | g.189575215G>T | CA349989708 | SLC40A1 | c.217C>A (p.Leu73Met) n.658C>A n.498C>A c.97C>A (p.Leu33Met) | |
| 2 | g.189575216A>C | CA430367522 | SLC40A1 | c.216T>G (p.Val72=) n.657T>G n.497T>G c.96T>G (p.Val32=) | |
| 2 | g.189575216A>G | CA430367523 | SLC40A1 | c.216T>C (p.Val72=) n.657T>C n.497T>C c.96T>C (p.Val32=) | |
| 2 | g.189575216A>T | CA430367524 | SLC40A1 | c.216T>A (p.Val72=) n.657T>A n.497T>A c.96T>A (p.Val32=) | |
| 2 | g.189575217A>C | CA349989709 | SLC40A1 | c.215T>G (p.Val72Gly) n.656T>G n.496T>G c.95T>G (p.Val32Gly) | |
| 2 | g.189575217A>G | CA349989710 | SLC40A1 | c.215T>C (p.Val72Ala) n.656T>C n.496T>C c.95T>C (p.Val32Ala) | |
| 2 | g.189575217A>T | CA349989711 | SLC40A1 | c.215T>A (p.Val72Asp) n.656T>A n.496T>A c.95T>A (p.Val32Asp) | |
| 2 | g.189575218C>A | CA349989713 | SLC40A1 | c.214G>T (p.Val72Phe) n.655G>T n.495G>T c.94G>T (p.Val32Phe) | dbSNP |
| 2 | g.189575218C= | CA1315653703 | SLC40A1 | c.214G= (p.Val72=) n.655G= n.495G= c.94G= (p.Val32=) | |
| 2 | g.189575218C>G | CA62904038 | SLC40A1 | c.214G>C (p.Val72Leu) n.655G>C n.495G>C c.94G>C (p.Val32Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.189575218C>T | CA349989712 | SLC40A1 | c.214G>A (p.Val72Ile) n.655G>A n.495G>A c.94G>A (p.Val32Ile) | |
| 2 | g.189575219A>C | CA430367525 | SLC40A1 | c.213T>G (p.Ser71=) n.654T>G n.494T>G c.93T>G (p.Ser31=) | |
| 2 | g.189575219A>G | CA430367526 | SLC40A1 | c.213T>C (p.Ser71=) n.654T>C n.494T>C c.93T>C (p.Ser31=) | gnomAD v4 |
| 2 | g.189575219A>T | CA430367527 | SLC40A1 | c.213T>A (p.Ser71=) n.654T>A n.494T>A c.93T>A (p.Ser31=) | |
| 2 | g.189575220G>A | CA349989714 | SLC40A1 | c.212C>T (p.Ser71Phe) n.653C>T n.493C>T c.92C>T (p.Ser31Phe) | ClinVar dbSNP |
| 2 | g.189575220G>C | CA62904039 | SLC40A1 | c.212C>G (p.Ser71Cys) n.653C>G n.493C>G c.92C>G (p.Ser31Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189575220G= | CA1315653706 | SLC40A1 | c.212C= (p.Ser71=) n.653C= n.493C= c.92C= (p.Ser31=) |