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 |
|---|---|---|---|---|---|
| 18 | g.3457478A>C | CA401723353 | TGIF1 | c.297A>C (p.Glu99Asp) c.357A>C (p.Glu119Asp) c.744A>C (p.Glu248Asp) c.*70A>C (n.*70A>C) c.399A>C (p.Glu133Asp) c.366A>C (p.Glu122Asp) | |
| 18 | g.3457478A>G | CA502810427 | TGIF1 | c.297A>G (p.Glu99=) c.357A>G (p.Glu119=) c.744A>G (p.Glu248=) c.*70A>G (n.*70A>G) c.399A>G (p.Glu133=) c.366A>G (p.Glu122=) | |
| 18 | g.3457478A>T | CA401723354 | TGIF1 | c.297A>T (p.Glu99Asp) c.357A>T (p.Glu119Asp) c.744A>T (p.Glu248Asp) c.*70A>T (n.*70A>T) c.399A>T (p.Glu133Asp) c.366A>T (p.Glu122Asp) | |
| 18 | g.3457479A>C | CA401723355 | TGIF1 | c.298A>C (p.Thr100Pro) c.358A>C (p.Thr120Pro) c.745A>C (p.Thr249Pro) c.*71A>C (n.*71A>C) c.400A>C (p.Thr134Pro) c.367A>C (p.Thr123Pro) | |
| 18 | g.3457479A>G | CA401723356 | TGIF1 | c.298A>G (p.Thr100Ala) c.358A>G (p.Thr120Ala) c.745A>G (p.Thr249Ala) c.*71A>G (n.*71A>G) c.400A>G (p.Thr134Ala) c.367A>G (p.Thr123Ala) | gnomAD v4 |
| 18 | g.3457479A>T | CA401723357 | TGIF1 | c.298A>T (p.Thr100Ser) c.358A>T (p.Thr120Ser) c.745A>T (p.Thr249Ser) c.*71A>T (n.*71A>T) c.400A>T (p.Thr134Ser) c.367A>T (p.Thr123Ser) | |
| 18 | g.3457480C>A | CA401723358 | TGIF1 | c.299C>A (p.Thr100Lys) c.359C>A (p.Thr120Lys) c.746C>A (p.Thr249Lys) c.*72C>A (n.*72C>A) c.401C>A (p.Thr134Lys) c.368C>A (p.Thr123Lys) | |
| 18 | g.3457480C= | CA2281035536 | TGIF1 | c.299C= (p.Thr100=) c.359C= (p.Thr120=) c.746C= (p.Thr249=) c.*72C= (n.*72C=) c.401C= (p.Thr134=) c.368C= (p.Thr123=) | |
| 18 | g.3457480C>G | CA401723359 | TGIF1 | c.299C>G (p.Thr100Arg) c.359C>G (p.Thr120Arg) c.746C>G (p.Thr249Arg) c.*72C>G (n.*72C>G) c.401C>G (p.Thr134Arg) c.368C>G (p.Thr123Arg) | |
| 18 | g.3457480C>T | CA8875938 | TGIF1 | c.299C>T (p.Thr100Met) c.359C>T (p.Thr120Met) c.746C>T (p.Thr249Met) c.*72C>T (n.*72C>T) c.401C>T (p.Thr134Met) c.368C>T (p.Thr123Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.3457481G>A | CA8875939 | TGIF1 | c.300G>A (p.Thr100=) c.360G>A (p.Thr120=) c.747G>A (p.Thr249=) c.*73G>A (n.*73G>A) c.402G>A (p.Thr134=) c.369G>A (p.Thr123=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.3457481G>C | CA502810429 | TGIF1 | c.300G>C (p.Thr100=) c.360G>C (p.Thr120=) c.747G>C (p.Thr249=) c.*73G>C (n.*73G>C) c.402G>C (p.Thr134=) c.369G>C (p.Thr123=) | gnomAD v4 |
| 18 | g.3457481G= | CA2281035537 | TGIF1 | c.300G= (p.Thr100=) c.360G= (p.Thr120=) c.747G= (p.Thr249=) c.*73G= (n.*73G=) c.402G= (p.Thr134=) c.369G= (p.Thr123=) | |
| 18 | g.3457481G>T | CA502810430 | TGIF1 | c.300G>T (p.Thr100=) c.360G>T (p.Thr120=) c.747G>T (p.Thr249=) c.*73G>T (n.*73G>T) c.402G>T (p.Thr134=) c.369G>T (p.Thr123=) | |
| 18 | g.3457482A>C | CA401723362 | TGIF1 | c.301A>C (p.Ser101Arg) c.361A>C (p.Ser121Arg) c.748A>C (p.Ser250Arg) c.*74A>C (n.*74A>C) c.403A>C (p.Ser135Arg) c.370A>C (p.Ser124Arg) | |
| 18 | g.3457482A>G | CA401723360 | TGIF1 | c.301A>G (p.Ser101Gly) c.361A>G (p.Ser121Gly) c.748A>G (p.Ser250Gly) c.*74A>G (n.*74A>G) c.403A>G (p.Ser135Gly) c.370A>G (p.Ser124Gly) | |
| 18 | g.3457482A>T | CA401723361 | TGIF1 | c.301A>T (p.Ser101Cys) c.361A>T (p.Ser121Cys) c.748A>T (p.Ser250Cys) c.*74A>T (n.*74A>T) c.403A>T (p.Ser135Cys) c.370A>T (p.Ser124Cys) | |
| 18 | g.3457483G>A | CA401723363 | TGIF1 | c.302G>A (p.Ser101Asn) c.362G>A (p.Ser121Asn) c.749G>A (p.Ser250Asn) c.*75G>A (n.*75G>A) c.404G>A (p.Ser135Asn) c.371G>A (p.Ser124Asn) | |
| 18 | g.3457483G>C | CA401723364 | TGIF1 | c.302G>C (p.Ser101Thr) c.362G>C (p.Ser121Thr) c.749G>C (p.Ser250Thr) c.*75G>C (n.*75G>C) c.404G>C (p.Ser135Thr) c.371G>C (p.Ser124Thr) | |
| 18 | g.3457483G>T | CA401723365 | TGIF1 | c.302G>T (p.Ser101Ile) c.362G>T (p.Ser121Ile) c.749G>T (p.Ser250Ile) c.*75G>T (n.*75G>T) c.404G>T (p.Ser135Ile) c.371G>T (p.Ser124Ile) | |
| 18 | g.3457484C>A | CA401723366 | TGIF1 | c.303C>A (p.Ser101Arg) c.363C>A (p.Ser121Arg) c.750C>A (p.Ser250Arg) c.*76C>A (n.*76C>A) c.405C>A (p.Ser135Arg) c.372C>A (p.Ser124Arg) | |
| 18 | g.3457484C>G | CA401723367 | TGIF1 | c.303C>G (p.Ser101Arg) c.363C>G (p.Ser121Arg) c.750C>G (p.Ser250Arg) c.*76C>G (n.*76C>G) c.405C>G (p.Ser135Arg) c.372C>G (p.Ser124Arg) | gnomAD v4 |
| 18 | g.3457484C>T | CA502810432 | TGIF1 | c.303C>T (p.Ser101=) c.363C>T (p.Ser121=) c.750C>T (p.Ser250=) c.*76C>T (n.*76C>T) c.405C>T (p.Ser135=) c.372C>T (p.Ser124=) | |
| 18 | g.3457485T>A | CA401723368 | TGIF1 | c.304T>A (p.Ser102Thr) c.364T>A (p.Ser122Thr) c.751T>A (p.Ser251Thr) c.*77T>A (n.*77T>A) c.406T>A (p.Ser136Thr) c.373T>A (p.Ser125Thr) | |
| 18 | g.3457485T>C | CA401723369 | TGIF1 | c.304T>C (p.Ser102Pro) c.364T>C (p.Ser122Pro) c.751T>C (p.Ser251Pro) c.*77T>C (n.*77T>C) c.406T>C (p.Ser136Pro) c.373T>C (p.Ser125Pro) | |
| 18 | g.3457485T>G | CA401723370 | TGIF1 | c.304T>G (p.Ser102Ala) c.364T>G (p.Ser122Ala) c.751T>G (p.Ser251Ala) c.*77T>G (n.*77T>G) c.406T>G (p.Ser136Ala) c.373T>G (p.Ser125Ala) | |
| 18 | g.3457486C>A | CA401723371 | TGIF1 | c.305C>A (p.Ser102Tyr) c.365C>A (p.Ser122Tyr) c.752C>A (p.Ser251Tyr) c.*78C>A (n.*78C>A) c.407C>A (p.Ser136Tyr) c.374C>A (p.Ser125Tyr) | |
| 18 | g.3457486C>G | CA401723372 | TGIF1 | c.305C>G (p.Ser102Cys) c.365C>G (p.Ser122Cys) c.752C>G (p.Ser251Cys) c.*78C>G (n.*78C>G) c.407C>G (p.Ser136Cys) c.374C>G (p.Ser125Cys) | |
| 18 | g.3457486C>T | CA401723373 | TGIF1 | c.305C>T (p.Ser102Phe) c.365C>T (p.Ser122Phe) c.752C>T (p.Ser251Phe) c.*78C>T (n.*78C>T) c.407C>T (p.Ser136Phe) c.374C>T (p.Ser125Phe) | |
| 18 | g.3457487T>A | CA502810433 | TGIF1 | c.306T>A (p.Ser102=) c.366T>A (p.Ser122=) c.753T>A (p.Ser251=) c.*79T>A (n.*79T>A) c.408T>A (p.Ser136=) c.375T>A (p.Ser125=) | |
| 18 | g.3457487T>C | CA502810435 | TGIF1 | c.306T>C (p.Ser102=) c.366T>C (p.Ser122=) c.753T>C (p.Ser251=) c.*79T>C (n.*79T>C) c.408T>C (p.Ser136=) c.375T>C (p.Ser125=) | |
| 18 | g.3457487T>G | CA502810436 | TGIF1 | c.306T>G (p.Ser102=) c.366T>G (p.Ser122=) c.753T>G (p.Ser251=) c.*79T>G (n.*79T>G) c.408T>G (p.Ser136=) c.375T>G (p.Ser125=) | |
| 18 | g.3457488G>A | CA401723375 | TGIF1 | c.307G>A (p.Val103Met) c.367G>A (p.Val123Met) c.754G>A (p.Val252Met) c.*80G>A (n.*80G>A) c.409G>A (p.Val137Met) c.376G>A (p.Val126Met) | |
| 18 | g.3457488G>C | CA401723376 | TGIF1 | c.307G>C (p.Val103Leu) c.367G>C (p.Val123Leu) c.754G>C (p.Val252Leu) c.*80G>C (n.*80G>C) c.409G>C (p.Val137Leu) c.376G>C (p.Val126Leu) | gnomAD v4 |
| 18 | g.3457488G>T | CA401723374 | TGIF1 | c.307G>T (p.Val103Leu) c.367G>T (p.Val123Leu) c.754G>T (p.Val252Leu) c.*80G>T (n.*80G>T) c.409G>T (p.Val137Leu) c.376G>T (p.Val126Leu) | |
| 18 | g.3457489T>A | CA401723379 | TGIF1 | c.308T>A (p.Val103Glu) c.368T>A (p.Val123Glu) c.755T>A (p.Val252Glu) c.*81T>A (n.*81T>A) c.410T>A (p.Val137Glu) c.377T>A (p.Val126Glu) | |
| 18 | g.3457489T>C | CA401723377 | TGIF1 | c.308T>C (p.Val103Ala) c.368T>C (p.Val123Ala) c.755T>C (p.Val252Ala) c.*81T>C (n.*81T>C) c.410T>C (p.Val137Ala) c.377T>C (p.Val126Ala) | |
| 18 | g.3457489T>G | CA401723378 | TGIF1 | c.308T>G (p.Val103Gly) c.368T>G (p.Val123Gly) c.755T>G (p.Val252Gly) c.*81T>G (n.*81T>G) c.410T>G (p.Val137Gly) c.377T>G (p.Val126Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.3457489T= | CA2281035538 | TGIF1 | c.308T= (p.Val103=) c.368T= (p.Val123=) c.755T= (p.Val252=) c.*81T= (n.*81T=) c.410T= (p.Val137=) c.377T= (p.Val126=) | |
| 18 | g.3457490G>A | CA502810440 | TGIF1 | c.309G>A (p.Val103=) c.369G>A (p.Val123=) c.756G>A (p.Val252=) c.*82G>A (n.*82G>A) c.411G>A (p.Val137=) c.378G>A (p.Val126=) | |
| 18 | g.3457490G>C | CA502810441 | TGIF1 | c.309G>C (p.Val103=) c.369G>C (p.Val123=) c.756G>C (p.Val252=) c.*82G>C (n.*82G>C) c.411G>C (p.Val137=) c.378G>C (p.Val126=) | |
| 18 | g.3457490G>T | CA502810442 | TGIF1 | c.309G>T (p.Val103=) c.369G>T (p.Val123=) c.756G>T (p.Val252=) c.*82G>T (n.*82G>T) c.411G>T (p.Val137=) c.378G>T (p.Val126=) | |
| 18 | g.3457491G>A | CA401723380 | TGIF1 | c.310G>A (p.Glu104Lys) c.370G>A (p.Glu124Lys) c.757G>A (p.Glu253Lys) c.*83G>A (n.*83G>A) c.412G>A (p.Glu138Lys) c.379G>A (p.Glu127Lys) | |
| 18 | g.3457491G>C | CA401723381 | TGIF1 | c.310G>C (p.Glu104Gln) c.370G>C (p.Glu124Gln) c.757G>C (p.Glu253Gln) c.*83G>C (n.*83G>C) c.412G>C (p.Glu138Gln) c.379G>C (p.Glu127Gln) | |
| 18 | g.3457491G>T | CA401723382 | TGIF1 | c.310G>T (p.Glu104Ter) c.370G>T (p.Glu124Ter) c.757G>T (p.Glu253Ter) c.*83G>T (n.*83G>T) c.412G>T (p.Glu138Ter) c.379G>T (p.Glu127Ter) | |
| 18 | g.3457492A>C | CA401723383 | TGIF1 | c.311A>C (p.Glu104Ala) c.371A>C (p.Glu124Ala) c.758A>C (p.Glu253Ala) c.*84A>C (n.*84A>C) c.413A>C (p.Glu138Ala) c.380A>C (p.Glu127Ala) | |
| 18 | g.3457492A>G | CA401723384 | TGIF1 | c.311A>G (p.Glu104Gly) c.371A>G (p.Glu124Gly) c.758A>G (p.Glu253Gly) c.*84A>G (n.*84A>G) c.413A>G (p.Glu138Gly) c.380A>G (p.Glu127Gly) | |
| 18 | g.3457492A>T | CA401723385 | TGIF1 | c.311A>T (p.Glu104Val) c.371A>T (p.Glu124Val) c.758A>T (p.Glu253Val) c.*84A>T (n.*84A>T) c.413A>T (p.Glu138Val) c.380A>T (p.Glu127Val) | |
| 18 | g.3457493G>A | CA502810443 | TGIF1 | c.312G>A (p.Glu104=) c.372G>A (p.Glu124=) c.759G>A (p.Glu253=) c.*85G>A (n.*85G>A) c.414G>A (p.Glu138=) c.381G>A (p.Glu127=) | |
| 18 | g.3457493G>C | CA401723386 | TGIF1 | c.312G>C (p.Glu104Asp) c.372G>C (p.Glu124Asp) c.759G>C (p.Glu253Asp) c.*85G>C (n.*85G>C) c.414G>C (p.Glu138Asp) c.381G>C (p.Glu127Asp) |