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 |
|---|---|---|---|---|---|
| 9 | g.99137989_99137991del | CA323464 | TGFBR1 | c.498_500del (p.Ser167del) c.510_512del (p.Ser171del) c.380-4547_380-4545del (n.380-4547_380-4545del) c.267_269del (p.Ser90del) c.*501_*503del (n.*501_*503del) c.705_707del (p.Ser236del) c.474_476del (p.Ser159del) c.717_719del (p.Ser240del) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 9 | g.99137989C>A | CA466434210 | TGFBR1 | c.498C>A (p.Ser166=) c.510C>A (p.Ser170=) c.380-4547C>A (n.380-4547C>A) c.267C>A (p.Ser89=) c.*501C>A (n.*501C>A) c.705C>A (p.Ser235=) c.474C>A (p.Ser158=) c.717C>A (p.Ser239=) | dbSNP |
| 9 | g.99137989C= | CA1867255832 | TGFBR1 | c.498C= (p.Ser166=) c.510C= (p.Ser170=) c.380-4547C= (n.380-4547C=) c.267C= (p.Ser89=) c.*501C= (n.*501C=) c.705C= (p.Ser235=) c.474C= (p.Ser158=) c.717C= (p.Ser239=) | |
| 9 | g.99137989C>G | CA466434211 | TGFBR1 | c.498C>G (p.Ser166=) c.510C>G (p.Ser170=) c.380-4547C>G (n.380-4547C>G) c.267C>G (p.Ser89=) c.*501C>G (n.*501C>G) c.705C>G (p.Ser235=) c.474C>G (p.Ser158=) c.717C>G (p.Ser239=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.99137989C>T | CA466434212 | TGFBR1 | c.498C>T (p.Ser166=) c.510C>T (p.Ser170=) c.380-4547C>T (n.380-4547C>T) c.267C>T (p.Ser89=) c.*501C>T (n.*501C>T) c.705C>T (p.Ser235=) c.474C>T (p.Ser158=) c.717C>T (p.Ser239=) | dbSNP |
| 9 | g.99137990T>A | CA374229744 | TGFBR1 | c.499T>A (p.Ser167Thr) c.511T>A (p.Ser171Thr) c.380-4546T>A (n.380-4546T>A) c.268T>A (p.Ser90Thr) c.*502T>A (n.*502T>A) c.706T>A (p.Ser236Thr) c.475T>A (p.Ser159Thr) c.718T>A (p.Ser240Thr) | dbSNP |
| 9 | g.99137990T>C | CA374229746 | TGFBR1 | c.499T>C (p.Ser167Pro) c.511T>C (p.Ser171Pro) c.380-4546T>C (n.380-4546T>C) c.268T>C (p.Ser90Pro) c.*502T>C (n.*502T>C) c.706T>C (p.Ser236Pro) c.475T>C (p.Ser159Pro) c.718T>C (p.Ser240Pro) | ClinVar |
| 9 | g.99137990T>G | CA374229743 | TGFBR1 | c.499T>G (p.Ser167Ala) c.511T>G (p.Ser171Ala) c.380-4546T>G (n.380-4546T>G) c.268T>G (p.Ser90Ala) c.*502T>G (n.*502T>G) c.706T>G (p.Ser236Ala) c.475T>G (p.Ser159Ala) c.718T>G (p.Ser240Ala) | ClinVar dbSNP |
| 9 | g.99137990T= | CA1867255838 | TGFBR1 | c.499T= (p.Ser167=) c.511T= (p.Ser171=) c.380-4546T= (n.380-4546T=) c.268T= (p.Ser90=) c.*502T= (n.*502T=) c.706T= (p.Ser236=) c.475T= (p.Ser159=) c.718T= (p.Ser240=) | |
| 9 | g.99137991C>A | CA374229748 | TGFBR1 | c.500C>A (p.Ser167Tyr) c.512C>A (p.Ser171Tyr) c.380-4545C>A (n.380-4545C>A) c.269C>A (p.Ser90Tyr) c.*503C>A (n.*503C>A) c.707C>A (p.Ser236Tyr) c.476C>A (p.Ser159Tyr) c.719C>A (p.Ser240Tyr) | dbSNP |
| 9 | g.99137991C= | CA1867255846 | TGFBR1 | c.500C= (p.Ser167=) c.512C= (p.Ser171=) c.380-4545C= (n.380-4545C=) c.269C= (p.Ser90=) c.*503C= (n.*503C=) c.707C= (p.Ser236=) c.476C= (p.Ser159=) c.719C= (p.Ser240=) | |
| 9 | g.99137991C>G | CA374229749 | TGFBR1 | c.500C>G (p.Ser167Cys) c.512C>G (p.Ser171Cys) c.380-4545C>G (n.380-4545C>G) c.269C>G (p.Ser90Cys) c.*503C>G (n.*503C>G) c.707C>G (p.Ser236Cys) c.476C>G (p.Ser159Cys) c.719C>G (p.Ser240Cys) | dbSNP |
| 9 | g.99137991C>T | CA321749 | TGFBR1 | c.500C>T (p.Ser167Phe) c.512C>T (p.Ser171Phe) c.380-4545C>T (n.380-4545C>T) c.269C>T (p.Ser90Phe) c.*503C>T (n.*503C>T) c.707C>T (p.Ser236Phe) c.476C>T (p.Ser159Phe) c.719C>T (p.Ser240Phe) | ClinVar dbSNP |
| 9 | g.99137992T>A | CA466434213 | TGFBR1 | c.501T>A (p.Ser167=) c.513T>A (p.Ser171=) c.380-4544T>A (n.380-4544T>A) c.270T>A (p.Ser90=) c.*504T>A (n.*504T>A) c.708T>A (p.Ser236=) c.477T>A (p.Ser159=) c.720T>A (p.Ser240=) | |
| 9 | g.99137992T>C | CA466434214 | TGFBR1 | c.501T>C (p.Ser167=) c.513T>C (p.Ser171=) c.380-4544T>C (n.380-4544T>C) c.270T>C (p.Ser90=) c.*504T>C (n.*504T>C) c.708T>C (p.Ser236=) c.477T>C (p.Ser159=) c.720T>C (p.Ser240=) | |
| 9 | g.99137992T>G | CA466434215 | TGFBR1 | c.501T>G (p.Ser167=) c.513T>G (p.Ser171=) c.380-4544T>G (n.380-4544T>G) c.270T>G (p.Ser90=) c.*504T>G (n.*504T>G) c.708T>G (p.Ser236=) c.477T>G (p.Ser159=) c.720T>G (p.Ser240=) | |
| 9 | g.99137993A= | CA1867255850 | TGFBR1 | c.502A= (p.Arg168=) c.514A= (p.Arg172=) c.380-4543A= (n.380-4543A=) c.271A= (p.Arg91=) c.*505A= (n.*505A=) c.709A= (p.Arg237=) c.478A= (p.Arg160=) c.721A= (p.Arg241=) | |
| 9 | g.99137993A>C | CA466434216 | TGFBR1 | c.502A>C (p.Arg168=) c.514A>C (p.Arg172=) c.380-4543A>C (n.380-4543A>C) c.271A>C (p.Arg91=) c.*505A>C (n.*505A>C) c.709A>C (p.Arg237=) c.478A>C (p.Arg160=) c.721A>C (p.Arg241=) | |
| 9 | g.99137993A>G | CA323375 | TGFBR1 | c.502A>G (p.Arg168Gly) c.514A>G (p.Arg172Gly) c.380-4543A>G (n.380-4543A>G) c.271A>G (p.Arg91Gly) c.*505A>G (n.*505A>G) c.709A>G (p.Arg237Gly) c.478A>G (p.Arg160Gly) c.721A>G (p.Arg241Gly) | ClinVar dbSNP |
| 9 | g.99137993A>T | CA374229752 | TGFBR1 | c.502A>T (p.Arg168Ter) c.514A>T (p.Arg172Ter) c.380-4543A>T (n.380-4543A>T) c.271A>T (p.Arg91Ter) c.*505A>T (n.*505A>T) c.709A>T (p.Arg237Ter) c.478A>T (p.Arg160Ter) c.721A>T (p.Arg241Ter) | dbSNP |
| 9 | g.99137994G>A | CA374229756 | TGFBR1 | c.503G>A (p.Arg168Lys) c.515G>A (p.Arg172Lys) c.380-4542G>A (n.380-4542G>A) c.272G>A (p.Arg91Lys) c.*506G>A (n.*506G>A) c.710G>A (p.Arg237Lys) c.479G>A (p.Arg160Lys) c.722G>A (p.Arg241Lys) | ClinVar dbSNP |
| 9 | g.99137994G>C | CA374229753 | TGFBR1 | c.503G>C (p.Arg168Thr) c.515G>C (p.Arg172Thr) c.380-4542G>C (n.380-4542G>C) c.272G>C (p.Arg91Thr) c.*506G>C (n.*506G>C) c.710G>C (p.Arg237Thr) c.479G>C (p.Arg160Thr) c.722G>C (p.Arg241Thr) | dbSNP |
| 9 | g.99137994G= | CA1867255857 | TGFBR1 | c.503G= (p.Arg168=) c.515G= (p.Arg172=) c.380-4542G= (n.380-4542G=) c.272G= (p.Arg91=) c.*506G= (n.*506G=) c.710G= (p.Arg237=) c.479G= (p.Arg160=) c.722G= (p.Arg241=) | |
| 9 | g.99137994G>T | CA374229755 | TGFBR1 | c.503G>T (p.Arg168Ile) c.515G>T (p.Arg172Ile) c.380-4542G>T (n.380-4542G>T) c.272G>T (p.Arg91Ile) c.*506G>T (n.*506G>T) c.710G>T (p.Arg237Ile) c.479G>T (p.Arg160Ile) c.722G>T (p.Arg241Ile) | |
| 9 | g.99137995A>C | CA374229757 | TGFBR1 | c.504A>C (p.Arg168Ser) c.516A>C (p.Arg172Ser) c.380-4541A>C (n.380-4541A>C) c.273A>C (p.Arg91Ser) c.*507A>C (n.*507A>C) c.711A>C (p.Arg237Ser) c.480A>C (p.Arg160Ser) c.723A>C (p.Arg241Ser) | |
| 9 | g.99137995A>G | CA466434217 | TGFBR1 | c.504A>G (p.Arg168=) c.516A>G (p.Arg172=) c.380-4541A>G (n.380-4541A>G) c.273A>G (p.Arg91=) c.*507A>G (n.*507A>G) c.711A>G (p.Arg237=) c.480A>G (p.Arg160=) c.723A>G (p.Arg241=) | |
| 9 | g.99137995A>T | CA374229758 | TGFBR1 | c.504A>T (p.Arg168Ser) c.516A>T (p.Arg172Ser) c.380-4541A>T (n.380-4541A>T) c.273A>T (p.Arg91Ser) c.*507A>T (n.*507A>T) c.711A>T (p.Arg237Ser) c.480A>T (p.Arg160Ser) c.723A>T (p.Arg241Ser) | dbSNP |
| 9 | g.99137999_99138001del | CA2580616266 | TGFBR1 | c.508_510del (p.Glu170del) c.520_522del (p.Glu174del) c.380-4537_380-4535del (n.380-4537_380-4535del) c.277_279del (p.Glu93del) c.*511_*513del (n.*511_*513del) c.715_717del (p.Glu239del) c.484_486del (p.Glu162del) c.727_729del (p.Glu243del) | ClinVar dbSNP |
| 9 | g.99137996G>A | CA374229760 | TGFBR1 | c.505G>A (p.Glu169Lys) c.517G>A (p.Glu173Lys) c.380-4540G>A (n.380-4540G>A) c.274G>A (p.Glu92Lys) c.*508G>A (n.*508G>A) c.712G>A (p.Glu238Lys) c.481G>A (p.Glu161Lys) c.724G>A (p.Glu242Lys) | dbSNP |
| 9 | g.99137996G>C | CA374229761 | TGFBR1 | c.505G>C (p.Glu169Gln) c.517G>C (p.Glu173Gln) c.380-4540G>C (n.380-4540G>C) c.274G>C (p.Glu92Gln) c.*508G>C (n.*508G>C) c.712G>C (p.Glu238Gln) c.481G>C (p.Glu161Gln) c.724G>C (p.Glu242Gln) | dbSNP |
| 9 | g.99137996G>T | CA374229762 | TGFBR1 | c.505G>T (p.Glu169Ter) c.517G>T (p.Glu173Ter) c.380-4540G>T (n.380-4540G>T) c.274G>T (p.Glu92Ter) c.*508G>T (n.*508G>T) c.712G>T (p.Glu238Ter) c.481G>T (p.Glu161Ter) c.724G>T (p.Glu242Ter) | |
| 9 | g.99137997A>C | CA374229766 | TGFBR1 | c.506A>C (p.Glu169Ala) c.518A>C (p.Glu173Ala) c.380-4539A>C (n.380-4539A>C) c.275A>C (p.Glu92Ala) c.*509A>C (n.*509A>C) c.713A>C (p.Glu238Ala) c.482A>C (p.Glu161Ala) c.725A>C (p.Glu242Ala) | |
| 9 | g.99137997A>G | CA374229763 | TGFBR1 | c.506A>G (p.Glu169Gly) c.518A>G (p.Glu173Gly) c.380-4539A>G (n.380-4539A>G) c.275A>G (p.Glu92Gly) c.*509A>G (n.*509A>G) c.713A>G (p.Glu238Gly) c.482A>G (p.Glu161Gly) c.725A>G (p.Glu242Gly) | dbSNP |
| 9 | g.99137997A>T | CA374229764 | TGFBR1 | c.506A>T (p.Glu169Val) c.518A>T (p.Glu173Val) c.380-4539A>T (n.380-4539A>T) c.275A>T (p.Glu92Val) c.*509A>T (n.*509A>T) c.713A>T (p.Glu238Val) c.482A>T (p.Glu161Val) c.725A>T (p.Glu242Val) | dbSNP |
| 9 | g.99137998A= | CA1867255861 | TGFBR1 | c.507A= (p.Glu169=) c.519A= (p.Glu173=) c.380-4538A= (n.380-4538A=) c.276A= (p.Glu92=) c.*510A= (n.*510A=) c.714A= (p.Glu238=) c.483A= (p.Glu161=) c.726A= (p.Glu242=) | |
| 9 | g.99137998A>C | CA374229768 | TGFBR1 | c.507A>C (p.Glu169Asp) c.519A>C (p.Glu173Asp) c.380-4538A>C (n.380-4538A>C) c.276A>C (p.Glu92Asp) c.*510A>C (n.*510A>C) c.714A>C (p.Glu238Asp) c.483A>C (p.Glu161Asp) c.726A>C (p.Glu242Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.99137998A>G | CA466434218 | TGFBR1 | c.507A>G (p.Glu169=) c.519A>G (p.Glu173=) c.380-4538A>G (n.380-4538A>G) c.276A>G (p.Glu92=) c.*510A>G (n.*510A>G) c.714A>G (p.Glu238=) c.483A>G (p.Glu161=) c.726A>G (p.Glu242=) | |
| 9 | g.99137998A>T | CA374229770 | TGFBR1 | c.507A>T (p.Glu169Asp) c.519A>T (p.Glu173Asp) c.380-4538A>T (n.380-4538A>T) c.276A>T (p.Glu92Asp) c.*510A>T (n.*510A>T) c.714A>T (p.Glu238Asp) c.483A>T (p.Glu161Asp) c.726A>T (p.Glu242Asp) | dbSNP |
| 9 | g.99137999G>A | CA374229771 | TGFBR1 | c.508G>A (p.Glu170Lys) c.520G>A (p.Glu174Lys) c.380-4537G>A (n.380-4537G>A) c.277G>A (p.Glu93Lys) c.*511G>A (n.*511G>A) c.715G>A (p.Glu239Lys) c.484G>A (p.Glu162Lys) c.727G>A (p.Glu243Lys) | ClinVar dbSNP |
| 9 | g.99137999G>C | CA374229772 | TGFBR1 | c.508G>C (p.Glu170Gln) c.520G>C (p.Glu174Gln) c.380-4537G>C (n.380-4537G>C) c.277G>C (p.Glu93Gln) c.*511G>C (n.*511G>C) c.715G>C (p.Glu239Gln) c.484G>C (p.Glu162Gln) c.727G>C (p.Glu243Gln) | dbSNP |
| 9 | g.99137999G>T | CA374229773 | TGFBR1 | c.508G>T (p.Glu170Ter) c.520G>T (p.Glu174Ter) c.380-4537G>T (n.380-4537G>T) c.277G>T (p.Glu93Ter) c.*511G>T (n.*511G>T) c.715G>T (p.Glu239Ter) c.484G>T (p.Glu162Ter) c.727G>T (p.Glu243Ter) | dbSNP |
| 9 | g.99138000A>C | CA374229776 | TGFBR1 | c.509A>C (p.Glu170Ala) c.521A>C (p.Glu174Ala) c.380-4536A>C (n.380-4536A>C) c.278A>C (p.Glu93Ala) c.*512A>C (n.*512A>C) c.716A>C (p.Glu239Ala) c.485A>C (p.Glu162Ala) c.728A>C (p.Glu243Ala) | dbSNP |
| 9 | g.99138000A>G | CA374229777 | TGFBR1 | c.509A>G (p.Glu170Gly) c.521A>G (p.Glu174Gly) c.380-4536A>G (n.380-4536A>G) c.278A>G (p.Glu93Gly) c.*512A>G (n.*512A>G) c.716A>G (p.Glu239Gly) c.485A>G (p.Glu162Gly) c.728A>G (p.Glu243Gly) | ClinVar dbSNP |
| 9 | g.99138000A>T | CA374229779 | TGFBR1 | c.509A>T (p.Glu170Val) c.521A>T (p.Glu174Val) c.380-4536A>T (n.380-4536A>T) c.278A>T (p.Glu93Val) c.*512A>T (n.*512A>T) c.716A>T (p.Glu239Val) c.485A>T (p.Glu162Val) c.728A>T (p.Glu243Val) | dbSNP |
| 9 | g.99138001A>C | CA374229780 | TGFBR1 | c.510A>C (p.Glu170Asp) c.522A>C (p.Glu174Asp) c.380-4535A>C (n.380-4535A>C) c.279A>C (p.Glu93Asp) c.*513A>C (n.*513A>C) c.717A>C (p.Glu239Asp) c.486A>C (p.Glu162Asp) c.729A>C (p.Glu243Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.99138001A>G | CA466434219 | TGFBR1 | c.510A>G (p.Glu170=) c.522A>G (p.Glu174=) c.380-4535A>G (n.380-4535A>G) c.279A>G (p.Glu93=) c.*513A>G (n.*513A>G) c.717A>G (p.Glu239=) c.486A>G (p.Glu162=) c.729A>G (p.Glu243=) | dbSNP |
| 9 | g.99138001A>T | CA374229781 | TGFBR1 | c.510A>T (p.Glu170Asp) c.522A>T (p.Glu174Asp) c.380-4535A>T (n.380-4535A>T) c.279A>T (p.Glu93Asp) c.*513A>T (n.*513A>T) c.717A>T (p.Glu239Asp) c.486A>T (p.Glu162Asp) c.729A>T (p.Glu243Asp) | dbSNP |
| 9 | g.99138002C>A | CA374229783 | TGFBR1 | c.511C>A (p.Arg171Ser) c.523C>A (p.Arg175Ser) c.380-4534C>A (n.380-4534C>A) c.280C>A (p.Arg94Ser) c.*514C>A (n.*514C>A) c.718C>A (p.Arg240Ser) c.487C>A (p.Arg163Ser) c.730C>A (p.Arg244Ser) | |
| 9 | g.99138002C= | CA1867255870 | TGFBR1 | c.511C= (p.Arg171=) c.523C= (p.Arg175=) c.380-4534C= (n.380-4534C=) c.280C= (p.Arg94=) c.*514C= (n.*514C=) c.718C= (p.Arg240=) c.487C= (p.Arg163=) c.730C= (p.Arg244=) | |
| 9 | g.99138002C>G | CA374229785 | TGFBR1 | c.511C>G (p.Arg171Gly) c.523C>G (p.Arg175Gly) c.380-4534C>G (n.380-4534C>G) c.280C>G (p.Arg94Gly) c.*514C>G (n.*514C>G) c.718C>G (p.Arg240Gly) c.487C>G (p.Arg163Gly) c.730C>G (p.Arg244Gly) | dbSNP |