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.203183684T>A | CA344298990 | CHI3L1 | c.422A>T (p.Tyr141Phe) c.440A>T (p.Tyr147Phe) | |
| 1 | g.203183684T>C | CA344298982 | CHI3L1 | c.422A>G (p.Tyr141Cys) c.440A>G (p.Tyr147Cys) | |
| 1 | g.203183684T>G | CA344298985 | CHI3L1 | c.422A>C (p.Tyr141Ser) c.440A>C (p.Tyr147Ser) | |
| 1 | g.203183685A>C | CA344298994 | CHI3L1 | c.421T>G (p.Tyr141Asp) c.439T>G (p.Tyr147Asp) | |
| 1 | g.203183685A>G | CA344298995 | CHI3L1 | c.421T>C (p.Tyr141His) c.439T>C (p.Tyr147His) | |
| 1 | g.203183685A>T | CA344298996 | CHI3L1 | c.421T>A (p.Tyr141Asn) c.439T>A (p.Tyr147Asn) | |
| 1 | g.203183686G>A | CA422634245 | CHI3L1 | c.420C>T (p.Leu140=) c.438C>T (p.Leu146=) | |
| 1 | g.203183686G>C | CA422634248 | CHI3L1 | c.420C>G (p.Leu140=) c.438C>G (p.Leu146=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.203183686G= | CA2481647401 | CHI3L1 | c.420C= (p.Leu140=) c.438C= (p.Leu146=) | |
| 1 | g.203183686G>T | CA422634251 | CHI3L1 | c.420C>A (p.Leu140=) c.438C>A (p.Leu146=) | |
| 1 | g.203183687A>C | CA344299009 | CHI3L1 | c.419T>G (p.Leu140Arg) c.437T>G (p.Leu146Arg) | |
| 1 | g.203183687A>G | CA344299010 | CHI3L1 | c.419T>C (p.Leu140Pro) c.437T>C (p.Leu146Pro) | |
| 1 | g.203183687A>T | CA344299011 | CHI3L1 | c.419T>A (p.Leu140His) c.437T>A (p.Leu146His) | |
| 1 | g.203183688G>A | CA344299013 | CHI3L1 | c.418C>T (p.Leu140Phe) c.436C>T (p.Leu146Phe) | gnomAD v4 |
| 1 | g.203183688G>C | CA344299014 | CHI3L1 | c.418C>G (p.Leu140Val) c.436C>G (p.Leu146Val) | |
| 1 | g.203183688G>T | CA344299015 | CHI3L1 | c.418C>A (p.Leu140Ile) c.436C>A (p.Leu146Ile) | |
| 1 | g.203183689C>A | CA344299018 | CHI3L1 | c.417G>T (p.Trp139Cys) c.435G>T (p.Trp145Cys) | gnomAD v4 |
| 1 | g.203183689C>G | CA344299019 | CHI3L1 | c.417G>C (p.Trp139Cys) c.435G>C (p.Trp145Cys) | |
| 1 | g.203183689C>T | CA344299020 | CHI3L1 | c.417G>A (p.Trp139Ter) c.435G>A (p.Trp145Ter) | |
| 1 | g.203183690C>A | CA344299023 | CHI3L1 | c.416G>T (p.Trp139Leu) c.434G>T (p.Trp145Leu) | |
| 1 | g.203183690C>G | CA344299028 | CHI3L1 | c.416G>C (p.Trp139Ser) c.434G>C (p.Trp145Ser) | |
| 1 | g.203183690C>T | CA344299025 | CHI3L1 | c.416G>A (p.Trp139Ter) c.434G>A (p.Trp145Ter) | |
| 1 | g.203183691A>C | CA344299032 | CHI3L1 | c.415T>G (p.Trp139Gly) c.433T>G (p.Trp145Gly) | |
| 1 | g.203183691A>G | CA344299037 | CHI3L1 | c.415T>C (p.Trp139Arg) c.433T>C (p.Trp145Arg) | |
| 1 | g.203183691A>T | CA344299034 | CHI3L1 | c.415T>A (p.Trp139Arg) c.433T>A (p.Trp145Arg) | |
| 1 | g.203183692G>A | CA422634282 | CHI3L1 | c.414C>T (p.Ala138=) c.432C>T (p.Ala144=) | dbSNP |
| 1 | g.203183692G>C | CA422634284 | CHI3L1 | c.414C>G (p.Ala138=) c.432C>G (p.Ala144=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.203183692G= | CA2481647402 | CHI3L1 | c.414C= (p.Ala138=) c.432C= (p.Ala144=) | |
| 1 | g.203183692G>T | CA422634287 | CHI3L1 | c.414C>A (p.Ala138=) c.432C>A (p.Ala144=) | |
| 1 | g.203183693G>A | CA344299038 | CHI3L1 | c.413C>T (p.Ala138Val) c.431C>T (p.Ala144Val) | dbSNP |
| 1 | g.203183693G>C | CA344299040 | CHI3L1 | c.413C>G (p.Ala138Gly) c.431C>G (p.Ala144Gly) | |
| 1 | g.203183693G>T | CA344299039 | CHI3L1 | c.413C>A (p.Ala138Asp) c.431C>A (p.Ala144Asp) | |
| 1 | g.203183694C>A | CA344299041 | CHI3L1 | c.412G>T (p.Ala138Ser) c.430G>T (p.Ala144Ser) | |
| 1 | g.203183694C>G | CA344299042 | CHI3L1 | c.412G>C (p.Ala138Pro) c.430G>C (p.Ala144Pro) | |
| 1 | g.203183694C>T | CA344299043 | CHI3L1 | c.412G>A (p.Ala138Thr) c.430G>A (p.Ala144Thr) | dbSNP |
| 1 | g.203183695A>C | CA422634302 | CHI3L1 | c.411T>G (p.Leu137=) c.429T>G (p.Leu143=) | |
| 1 | g.203183695A>G | CA422634305 | CHI3L1 | c.411T>C (p.Leu137=) c.429T>C (p.Leu143=) | |
| 1 | g.203183695A>T | CA422634307 | CHI3L1 | c.411T>A (p.Leu137=) c.429T>A (p.Leu143=) | |
| 1 | g.203183696A>C | CA344299044 | CHI3L1 | c.410T>G (p.Leu137Arg) c.428T>G (p.Leu143Arg) | |
| 1 | g.203183696A>G | CA344299045 | CHI3L1 | c.410T>C (p.Leu137Pro) c.428T>C (p.Leu143Pro) | |
| 1 | g.203183696A>T | CA344299047 | CHI3L1 | c.410T>A (p.Leu137His) c.428T>A (p.Leu143His) | |
| 1 | g.203183697G>A | CA344299050 | CHI3L1 | c.409C>T (p.Leu137Phe) c.427C>T (p.Leu143Phe) | |
| 1 | g.203183697G>C | CA344299052 | CHI3L1 | c.409C>G (p.Leu137Val) c.427C>G (p.Leu143Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.203183697G= | CA2481647403 | CHI3L1 | c.409C= (p.Leu137=) c.427C= (p.Leu143=) | |
| 1 | g.203183697G>T | CA35635855 | CHI3L1 | c.409C>A (p.Leu137Ile) c.427C>A (p.Leu143Ile) | dbSNP |
| 1 | g.203183698G>A | CA1339309 | CHI3L1 | c.408C>T (p.Asp136=) c.426C>T (p.Asp142=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.203183698G>C | CA344299060 | CHI3L1 | c.408C>G (p.Asp136Glu) c.426C>G (p.Asp142Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.203183698G= | CA2481647404 | CHI3L1 | c.408C= (p.Asp136=) c.426C= (p.Asp142=) | |
| 1 | g.203183698G>T | CA344299063 | CHI3L1 | c.408C>A (p.Asp136Glu) c.426C>A (p.Asp142Glu) | |
| 1 | g.203183699T>A | CA344299066 | CHI3L1 | c.407A>T (p.Asp136Val) c.425A>T (p.Asp142Val) |