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 |
|---|---|---|---|---|---|
| 3 | g.24127703A>C | CA351888909 | THRB | c.940T>G (p.Ser314Ala) c.*1569T>G (n.*1569T>G) c.985T>G (p.Ser329Ala) c.847T>G (p.Ser283Ala) | |
| 3 | g.24127703A>G | CA351888910 | THRB | c.940T>C (p.Ser314Pro) c.*1569T>C (n.*1569T>C) c.985T>C (p.Ser329Pro) c.847T>C (p.Ser283Pro) | COSMIC |
| 3 | g.24127703A>T | CA351888911 | THRB | c.940T>A (p.Ser314Thr) c.*1569T>A (n.*1569T>A) c.985T>A (p.Ser329Thr) c.847T>A (p.Ser283Thr) | |
| 3 | g.24127704C>A | CA351888912 | THRB | c.939G>T (p.Met313Ile) c.*1568G>T (n.*1568G>T) c.984G>T (p.Met328Ile) c.846G>T (p.Met282Ile) | |
| 3 | g.24127704C>G | CA351888913 | THRB | c.939G>C (p.Met313Ile) c.*1568G>C (n.*1568G>C) c.984G>C (p.Met328Ile) c.846G>C (p.Met282Ile) | |
| 3 | g.24127704C>T | CA351888914 | THRB | c.939G>A (p.Met313Ile) c.*1568G>A (n.*1568G>A) c.984G>A (p.Met328Ile) c.846G>A (p.Met282Ile) | |
| 3 | g.24127705A= | CA1351825361 | THRB | c.938T= (p.Met313=) c.*1567T= (n.*1567T=) c.983T= (p.Met328=) c.845T= (p.Met282=) | |
| 3 | g.24127705A>C | CA351888915 | THRB | c.938T>G (p.Met313Arg) c.*1567T>G (n.*1567T>G) c.983T>G (p.Met328Arg) c.845T>G (p.Met282Arg) | |
| 3 | g.24127705A>G | CA351888916 | THRB | c.938T>C (p.Met313Thr) c.*1567T>C (n.*1567T>C) c.983T>C (p.Met328Thr) c.845T>C (p.Met282Thr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.24127705A>T | CA351888917 | THRB | c.938T>A (p.Met313Lys) c.*1567T>A (n.*1567T>A) c.983T>A (p.Met328Lys) c.845T>A (p.Met282Lys) | |
| 3 | g.24127706T>A | CA351888920 | THRB | c.937A>T (p.Met313Leu) c.*1566A>T (n.*1566A>T) c.982A>T (p.Met328Leu) c.844A>T (p.Met282Leu) | |
| 3 | g.24127706T>C | CA351888919 | THRB | c.937A>G (p.Met313Val) c.*1566A>G (n.*1566A>G) c.982A>G (p.Met328Val) c.844A>G (p.Met282Val) | ClinVar dbSNP |
| 3 | g.24127706T>G | CA351888918 | THRB | c.937A>C (p.Met313Leu) c.*1566A>C (n.*1566A>C) c.982A>C (p.Met328Leu) c.844A>C (p.Met282Leu) | |
| 3 | g.24127706T= | CA1351825362 | THRB | c.937A= (p.Met313=) c.*1566A= (n.*1566A=) c.982A= (p.Met328=) c.844A= (p.Met282=) | |
| 3 | g.24127707G>A | CA432916305 | THRB | c.936C>T (p.Ile312=) c.*1565C>T (n.*1565C>T) c.981C>T (p.Ile327=) c.843C>T (p.Ile281=) | |
| 3 | g.24127707G>C | CA351888921 | THRB | c.936C>G (p.Ile312Met) c.*1565C>G (n.*1565C>G) c.981C>G (p.Ile327Met) c.843C>G (p.Ile281Met) | gnomAD v4 |
| 3 | g.24127707G>T | CA432916306 | THRB | c.936C>A (p.Ile312=) c.*1565C>A (n.*1565C>A) c.981C>A (p.Ile327=) c.843C>A (p.Ile281=) | |
| 3 | g.24127708A>C | CA351888922 | THRB | c.935T>G (p.Ile312Ser) c.*1564T>G (n.*1564T>G) c.980T>G (p.Ile327Ser) c.842T>G (p.Ile281Ser) | |
| 3 | g.24127708A>G | CA351888923 | THRB | c.935T>C (p.Ile312Thr) c.*1564T>C (n.*1564T>C) c.980T>C (p.Ile327Thr) c.842T>C (p.Ile281Thr) | |
| 3 | g.24127708A>T | CA351888924 | THRB | c.935T>A (p.Ile312Asn) c.*1564T>A (n.*1564T>A) c.980T>A (p.Ile327Asn) c.842T>A (p.Ile281Asn) | |
| 3 | g.24127709T>A | CA351888925 | THRB | c.934A>T (p.Ile312Phe) c.*1563A>T (n.*1563A>T) c.979A>T (p.Ile327Phe) c.841A>T (p.Ile281Phe) | |
| 3 | g.24127709T>C | CA351888926 | THRB | c.934A>G (p.Ile312Val) c.*1563A>G (n.*1563A>G) c.979A>G (p.Ile327Val) c.841A>G (p.Ile281Val) | |
| 3 | g.24127709T>G | CA351888927 | THRB | c.934A>C (p.Ile312Leu) c.*1563A>C (n.*1563A>C) c.979A>C (p.Ile327Leu) c.841A>C (p.Ile281Leu) | |
| 3 | g.24127710C>A | CA351888928 | THRB | c.933G>T (p.Glu311Asp) c.*1562G>T (n.*1562G>T) c.978G>T (p.Glu326Asp) c.840G>T (p.Glu280Asp) | |
| 3 | g.24127710C>G | CA351888929 | THRB | c.933G>C (p.Glu311Asp) c.*1562G>C (n.*1562G>C) c.978G>C (p.Glu326Asp) c.840G>C (p.Glu280Asp) | |
| 3 | g.24127710C>T | CA432916307 | THRB | c.933G>A (p.Glu311=) c.*1562G>A (n.*1562G>A) c.978G>A (p.Glu326=) c.840G>A (p.Glu280=) | |
| 3 | g.24127711T>A | CA351888930 | THRB | c.932A>T (p.Glu311Val) c.*1561A>T (n.*1561A>T) c.977A>T (p.Glu326Val) c.839A>T (p.Glu280Val) | |
| 3 | g.24127711T>C | CA351888931 | THRB | c.932A>G (p.Glu311Gly) c.*1561A>G (n.*1561A>G) c.977A>G (p.Glu326Gly) c.839A>G (p.Glu280Gly) | |
| 3 | g.24127711T>G | CA351888932 | THRB | c.932A>C (p.Glu311Ala) c.*1561A>C (n.*1561A>C) c.977A>C (p.Glu326Ala) c.839A>C (p.Glu280Ala) | |
| 3 | g.24127712C>A | CA351888934 | THRB | c.931G>T (p.Glu311Ter) c.*1560G>T (n.*1560G>T) c.976G>T (p.Glu326Ter) c.838G>T (p.Glu280Ter) | |
| 3 | g.24127712C>G | CA351888935 | THRB | c.931G>C (p.Glu311Gln) c.*1560G>C (n.*1560G>C) c.976G>C (p.Glu326Gln) c.838G>C (p.Glu280Gln) | dbSNP |
| 3 | g.24127712C>T | CA351888933 | THRB | c.931G>A (p.Glu311Lys) c.*1560G>A (n.*1560G>A) c.976G>A (p.Glu326Lys) c.838G>A (p.Glu280Lys) | |
| 3 | g.24127713C>A | CA351888936 | THRB | c.930G>T (p.Met310Ile) c.*1559G>T (n.*1559G>T) c.975G>T (p.Met325Ile) c.837G>T (p.Met279Ile) | |
| 3 | g.24127713C>G | CA351888937 | THRB | c.930G>C (p.Met310Ile) c.*1559G>C (n.*1559G>C) c.975G>C (p.Met325Ile) c.837G>C (p.Met279Ile) | |
| 3 | g.24127713C>T | CA351888938 | THRB | c.930G>A (p.Met310Ile) c.*1559G>A (n.*1559G>A) c.975G>A (p.Met325Ile) c.837G>A (p.Met279Ile) | |
| 3 | g.24127714A= | CA1351825366 | THRB | c.929T= (p.Met310=) c.*1558T= (n.*1558T=) c.974T= (p.Met325=) c.836T= (p.Met279=) | |
| 3 | g.24127714A>C | CA351888939 | THRB | c.929T>G (p.Met310Arg) c.*1558T>G (n.*1558T>G) c.974T>G (p.Met325Arg) c.836T>G (p.Met279Arg) | |
| 3 | g.24127714A>G | CA122463 | THRB | c.929T>C (p.Met310Thr) c.*1558T>C (n.*1558T>C) c.974T>C (p.Met325Thr) c.836T>C (p.Met279Thr) | ClinVar dbSNP |
| 3 | g.24127714A>T | CA351888940 | THRB | c.929T>A (p.Met310Lys) c.*1558T>A (n.*1558T>A) c.974T>A (p.Met325Lys) c.836T>A (p.Met279Lys) | |
| 3 | g.24127715T>A | CA351888941 | THRB | c.928A>T (p.Met310Leu) c.*1557A>T (n.*1557A>T) c.973A>T (p.Met325Leu) c.835A>T (p.Met279Leu) | ClinVar dbSNP |
| 3 | g.24127715T>C | CA351888942 | THRB | c.928A>G (p.Met310Val) c.*1557A>G (n.*1557A>G) c.973A>G (p.Met325Val) c.835A>G (p.Met279Val) | ClinVar dbSNP |
| 3 | g.24127715T>G | CA351888943 | THRB | c.928A>C (p.Met310Leu) c.*1557A>C (n.*1557A>C) c.973A>C (p.Met325Leu) c.835A>C (p.Met279Leu) | |
| 3 | g.24127715T= | CA1351825376 | THRB | c.928A= (p.Met310=) c.*1557A= (n.*1557A=) c.973A= (p.Met325=) c.835A= (p.Met279=) | |
| 3 | g.24127716G>A | CA2287143 | THRB | c.927C>T (p.Cys309=) c.*1556C>T (n.*1556C>T) c.972C>T (p.Cys324=) c.834C>T (p.Cys278=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.24127716G>C | CA351888944 | THRB | c.927C>G (p.Cys309Trp) c.*1556C>G (n.*1556C>G) c.972C>G (p.Cys324Trp) c.834C>G (p.Cys278Trp) | |
| 3 | g.24127716G= | CA1351825379 | THRB | c.927C= (p.Cys309=) c.*1556C= (n.*1556C=) c.972C= (p.Cys324=) c.834C= (p.Cys278=) | |
| 3 | g.24127716G>T | CA351888945 | THRB | c.927C>A (p.Cys309Ter) c.*1556C>A (n.*1556C>A) c.972C>A (p.Cys324Ter) c.834C>A (p.Cys278Ter) | |
| 3 | g.24127717C>A | CA351888947 | THRB | c.926G>T (p.Cys309Phe) c.*1555G>T (n.*1555G>T) c.971G>T (p.Cys324Phe) c.833G>T (p.Cys278Phe) | |
| 3 | g.24127717C>G | CA351888948 | THRB | c.926G>C (p.Cys309Ser) c.*1555G>C (n.*1555G>C) c.971G>C (p.Cys324Ser) c.833G>C (p.Cys278Ser) | |
| 3 | g.24127717C>T | CA351888946 | THRB | c.926G>A (p.Cys309Tyr) c.*1555G>A (n.*1555G>A) c.971G>A (p.Cys324Tyr) c.833G>A (p.Cys278Tyr) |