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.189575199A>C | CA349989678 | SLC40A1 | c.233T>G (p.Ile78Ser) n.674T>G n.514T>G c.113T>G (p.Ile38Ser) | |
| 2 | g.189575199A>G | CA349989679 | SLC40A1 | c.233T>C (p.Ile78Thr) n.674T>C n.514T>C c.113T>C (p.Ile38Thr) | |
| 2 | g.189575199A>T | CA349989680 | SLC40A1 | c.233T>A (p.Ile78Asn) n.674T>A n.514T>A c.113T>A (p.Ile38Asn) | |
| 2 | g.189575200T>A | CA349989681 | SLC40A1 | c.232A>T (p.Ile78Phe) n.673A>T n.513A>T c.112A>T (p.Ile38Phe) | |
| 2 | g.189575200T>C | CA349989682 | SLC40A1 | c.232A>G (p.Ile78Val) n.673A>G n.513A>G c.112A>G (p.Ile38Val) | gnomAD v4 |
| 2 | g.189575200T>G | CA349989683 | SLC40A1 | c.232A>C (p.Ile78Leu) n.673A>C n.513A>C c.112A>C (p.Ile38Leu) | |
| 2 | g.189575201G>A | CA430367505 | SLC40A1 | c.231C>T (p.Ala77=) n.672C>T n.512C>T c.111C>T (p.Ala37=) | |
| 2 | g.189575201G>C | CA430367506 | SLC40A1 | c.231C>G (p.Ala77=) n.672C>G n.512C>G c.111C>G (p.Ala37=) | |
| 2 | g.189575201G>T | CA430367507 | SLC40A1 | c.231C>A (p.Ala77=) n.672C>A n.512C>A c.111C>A (p.Ala37=) | |
| 2 | g.189575202G>A | CA349989684 | SLC40A1 | c.230C>T (p.Ala77Val) n.671C>T n.511C>T c.110C>T (p.Ala37Val) | |
| 2 | g.189575202G>C | CA349989685 | SLC40A1 | c.230C>G (p.Ala77Gly) n.671C>G n.511C>G c.110C>G (p.Ala37Gly) | COSMIC |
| 2 | g.189575202G= | CA1315653689 | SLC40A1 | c.230C= (p.Ala77=) n.671C= n.511C= c.110C= (p.Ala37=) | |
| 2 | g.189575202G>T | CA117517 | SLC40A1 | c.230C>A (p.Ala77Asp) n.671C>A n.511C>A c.110C>A (p.Ala37Asp) | ClinVar dbSNP |
| 2 | g.189575203C>A | CA349989686 | SLC40A1 | c.229G>T (p.Ala77Ser) n.670G>T n.510G>T c.109G>T (p.Ala37Ser) | |
| 2 | g.189575203C= | CA1315653694 | SLC40A1 | c.229G= (p.Ala77=) n.670G= n.510G= c.109G= (p.Ala37=) | |
| 2 | g.189575203C>G | CA349989687 | SLC40A1 | c.229G>C (p.Ala77Pro) n.670G>C n.510G>C c.109G>C (p.Ala37Pro) | |
| 2 | g.189575203C>T | CA62904036 | SLC40A1 | c.229G>A (p.Ala77Thr) n.670G>A n.510G>A c.109G>A (p.Ala37Thr) | dbSNP |
| 2 | g.189575204T>A | CA430367508 | SLC40A1 | c.228A>T (p.Gly76=) n.669A>T n.509A>T c.108A>T (p.Gly36=) | |
| 2 | g.189575204T>C | CA430367509 | SLC40A1 | c.228A>G (p.Gly76=) n.669A>G n.509A>G c.108A>G (p.Gly36=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.189575204T>G | CA430367510 | SLC40A1 | c.228A>C (p.Gly76=) n.669A>C n.509A>C c.108A>C (p.Gly36=) | |
| 2 | g.189575204T= | CA1315653696 | SLC40A1 | c.228A= (p.Gly76=) n.669A= n.509A= c.108A= (p.Gly36=) | |
| 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) |