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.99881336T>A | CA419314363 | AGL | c.2046T>A (p.Pro682=) n.2257T>A c.1998T>A (p.Pro666=) c.1995T>A (p.Pro665=) c.306T>A (p.Pro102=) | |
| 1 | g.99881336T>C | CA419314364 | AGL | c.2046T>C (p.Pro682=) n.2257T>C c.1998T>C (p.Pro666=) c.1995T>C (p.Pro665=) c.306T>C (p.Pro102=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.99881336T>G | CA419314365 | AGL | c.2046T>G (p.Pro682=) n.2257T>G c.1998T>G (p.Pro666=) c.1995T>G (p.Pro665=) c.306T>G (p.Pro102=) | |
| 1 | g.99881336T= | CA1183929289 | AGL | c.2046T= (p.Pro682=) n.2257T= c.1998T= (p.Pro666=) c.1995T= (p.Pro665=) c.306T= (p.Pro102=) | |
| 1 | g.99881337G>A | CA341318763 | AGL | c.2047G>A (p.Glu683Lys) n.2258G>A c.1999G>A (p.Glu667Lys) c.1996G>A (p.Glu666Lys) c.307G>A (p.Glu103Lys) | |
| 1 | g.99881337G>C | CA341318768 | AGL | c.2047G>C (p.Glu683Gln) n.2258G>C c.1999G>C (p.Glu667Gln) c.1996G>C (p.Glu666Gln) c.307G>C (p.Glu103Gln) | |
| 1 | g.99881337G>T | CA341318766 | AGL | c.2047G>T (p.Glu683Ter) n.2258G>T c.1999G>T (p.Glu667Ter) c.1996G>T (p.Glu666Ter) c.307G>T (p.Glu103Ter) | |
| 1 | g.99881338A>C | CA341318772 | AGL | c.2048A>C (p.Glu683Ala) n.2259A>C c.2000A>C (p.Glu667Ala) c.1997A>C (p.Glu666Ala) c.308A>C (p.Glu103Ala) | |
| 1 | g.99881338A>G | CA341318775 | AGL | c.2048A>G (p.Glu683Gly) n.2259A>G c.2000A>G (p.Glu667Gly) c.1997A>G (p.Glu666Gly) c.308A>G (p.Glu103Gly) | |
| 1 | g.99881338A>T | CA341318776 | AGL | c.2048A>T (p.Glu683Val) n.2259A>T c.2000A>T (p.Glu667Val) c.1997A>T (p.Glu666Val) c.308A>T (p.Glu103Val) | gnomAD v4 |
| 1 | g.99881339A= | CA1183929290 | AGL | c.2049A= (p.Glu683=) n.2260A= c.2001A= (p.Glu667=) c.1998A= (p.Glu666=) c.309A= (p.Glu103=) | |
| 1 | g.99881339A>C | CA341318777 | AGL | c.2049A>C (p.Glu683Asp) n.2260A>C c.2001A>C (p.Glu667Asp) c.1998A>C (p.Glu666Asp) c.309A>C (p.Glu103Asp) | |
| 1 | g.99881339A>G | CA27516206 | AGL | c.2049A>G (p.Glu683=) n.2260A>G c.2001A>G (p.Glu667=) c.1998A>G (p.Glu666=) c.309A>G (p.Glu103=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881339A>T | CA341318778 | AGL | c.2049A>T (p.Glu683Asp) n.2260A>T c.2001A>T (p.Glu667Asp) c.1998A>T (p.Glu666Asp) c.309A>T (p.Glu103Asp) | dbSNP gnomAD v4 |
| 1 | g.99881340G>A | CA341318779 | AGL | c.2050G>A (p.Ala684Thr) n.2261G>A c.2002G>A (p.Ala668Thr) c.1999G>A (p.Ala667Thr) c.310G>A (p.Ala104Thr) | dbSNP gnomAD v4 |
| 1 | g.99881340G>C | CA341318780 | AGL | c.2050G>C (p.Ala684Pro) n.2261G>C c.2002G>C (p.Ala668Pro) c.1999G>C (p.Ala667Pro) c.310G>C (p.Ala104Pro) | |
| 1 | g.99881340G= | CA1183929291 | AGL | c.2050G= (p.Ala684=) n.2261G= c.2002G= (p.Ala668=) c.1999G= (p.Ala667=) c.310G= (p.Ala104=) | |
| 1 | g.99881340G>T | CA341318781 | AGL | c.2050G>T (p.Ala684Ser) n.2261G>T c.2002G>T (p.Ala668Ser) c.1999G>T (p.Ala667Ser) c.310G>T (p.Ala104Ser) | |
| 1 | g.99881341C>A | CA341318782 | AGL | c.2051C>A (p.Ala684Glu) n.2262C>A c.2003C>A (p.Ala668Glu) c.2000C>A (p.Ala667Glu) c.311C>A (p.Ala104Glu) | gnomAD v4 |
| 1 | g.99881341C= | CA1183929292 | AGL | c.2051C= (p.Ala684=) n.2262C= c.2003C= (p.Ala668=) c.2000C= (p.Ala667=) c.311C= (p.Ala104=) | |
| 1 | g.99881341C>G | CA341318783 | AGL | c.2051C>G (p.Ala684Gly) n.2262C>G c.2003C>G (p.Ala668Gly) c.2000C>G (p.Ala667Gly) c.311C>G (p.Ala104Gly) | |
| 1 | g.99881341C>T | CA341318784 | AGL | c.2051C>T (p.Ala684Val) n.2262C>T c.2003C>T (p.Ala668Val) c.2000C>T (p.Ala667Val) c.311C>T (p.Ala104Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99881342A>C | CA419314368 | AGL | c.2052A>C (p.Ala684=) n.2263A>C c.2004A>C (p.Ala668=) c.2001A>C (p.Ala667=) c.312A>C (p.Ala104=) | |
| 1 | g.99881342A>G | CA419314367 | AGL | c.2052A>G (p.Ala684=) n.2263A>G c.2004A>G (p.Ala668=) c.2001A>G (p.Ala667=) c.312A>G (p.Ala104=) | gnomAD v4 |
| 1 | g.99881342A>T | CA419314366 | AGL | c.2052A>T (p.Ala684=) n.2263A>T c.2004A>T (p.Ala668=) c.2001A>T (p.Ala667=) c.312A>T (p.Ala104=) | |
| 1 | g.99881343T>A | CA341318792 | AGL | c.2053T>A (p.Leu685Met) n.2264T>A c.2005T>A (p.Leu669Met) c.2002T>A (p.Leu668Met) c.313T>A (p.Leu105Met) | |
| 1 | g.99881343T>C | CA419314369 | AGL | c.2053T>C (p.Leu685=) n.2264T>C c.2005T>C (p.Leu669=) c.2002T>C (p.Leu668=) c.313T>C (p.Leu105=) | |
| 1 | g.99881343T>G | CA966683 | AGL | c.2053T>G (p.Leu685Val) n.2264T>G c.2005T>G (p.Leu669Val) c.2002T>G (p.Leu668Val) c.313T>G (p.Leu105Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881343T= | CA1183929293 | AGL | c.2053T= (p.Leu685=) n.2264T= c.2005T= (p.Leu669=) c.2002T= (p.Leu668=) c.313T= (p.Leu105=) | |
| 1 | g.99881344T>A | CA341318796 | AGL | c.2054T>A (p.Leu685Ter) n.2265T>A c.2006T>A (p.Leu669Ter) c.2003T>A (p.Leu668Ter) c.314T>A (p.Leu105Ter) | |
| 1 | g.99881344T>C | CA341318797 | AGL | c.2054T>C (p.Leu685Ser) n.2265T>C c.2006T>C (p.Leu669Ser) c.2003T>C (p.Leu668Ser) c.314T>C (p.Leu105Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881344T>G | CA341318800 | AGL | c.2054T>G (p.Leu685Trp) n.2265T>G c.2006T>G (p.Leu669Trp) c.2003T>G (p.Leu668Trp) c.314T>G (p.Leu105Trp) | gnomAD v4 |
| 1 | g.99881344T= | CA1183929294 | AGL | c.2054T= (p.Leu685=) n.2265T= c.2006T= (p.Leu669=) c.2003T= (p.Leu668=) c.314T= (p.Leu105=) | |
| 1 | g.99881345G>A | CA419314370 | AGL | c.2055G>A (p.Leu685=) n.2266G>A c.2007G>A (p.Leu669=) c.2004G>A (p.Leu668=) c.315G>A (p.Leu105=) | |
| 1 | g.99881345G>C | CA341318802 | AGL | c.2055G>C (p.Leu685Phe) n.2266G>C c.2007G>C (p.Leu669Phe) c.2004G>C (p.Leu668Phe) c.315G>C (p.Leu105Phe) | |
| 1 | g.99881345G>T | CA341318804 | AGL | c.2055G>T (p.Leu685Phe) n.2266G>T c.2007G>T (p.Leu669Phe) c.2004G>T (p.Leu668Phe) c.315G>T (p.Leu105Phe) | |
| 1 | g.99881346C>A | CA341318809 | AGL | c.2056C>A (p.Pro686Thr) n.2267C>A c.2008C>A (p.Pro670Thr) c.2005C>A (p.Pro669Thr) c.316C>A (p.Pro106Thr) | gnomAD v4 COSMIC COSMIC |
| 1 | g.99881346C>G | CA341318813 | AGL | c.2056C>G (p.Pro686Ala) n.2267C>G c.2008C>G (p.Pro670Ala) c.2005C>G (p.Pro669Ala) c.316C>G (p.Pro106Ala) | |
| 1 | g.99881346C>T | CA341318815 | AGL | c.2056C>T (p.Pro686Ser) n.2267C>T c.2008C>T (p.Pro670Ser) c.2005C>T (p.Pro669Ser) c.316C>T (p.Pro106Ser) | COSMIC |
| 1 | g.99881347C>A | CA341318822 | AGL | c.2057C>A (p.Pro686His) n.2268C>A c.2009C>A (p.Pro670His) c.2006C>A (p.Pro669His) c.317C>A (p.Pro106His) | |
| 1 | g.99881347C= | CA1183929295 | AGL | c.2057C= (p.Pro686=) n.2268C= c.2009C= (p.Pro670=) c.2006C= (p.Pro669=) c.317C= (p.Pro106=) | |
| 1 | g.99881347C>G | CA341318823 | AGL | c.2057C>G (p.Pro686Arg) n.2268C>G c.2009C>G (p.Pro670Arg) c.2006C>G (p.Pro669Arg) c.317C>G (p.Pro106Arg) | |
| 1 | g.99881347C>T | CA341318824 | AGL | c.2057C>T (p.Pro686Leu) n.2268C>T c.2009C>T (p.Pro670Leu) c.2006C>T (p.Pro669Leu) c.317C>T (p.Pro106Leu) | dbSNP gnomAD v4 |
| 1 | g.99881348T>A | CA419314371 | AGL | c.2058T>A (p.Pro686=) n.2269T>A c.2010T>A (p.Pro670=) c.2007T>A (p.Pro669=) c.318T>A (p.Pro106=) | |
| 1 | g.99881348T>C | CA419314373 | AGL | c.2058T>C (p.Pro686=) n.2269T>C c.2010T>C (p.Pro670=) c.2007T>C (p.Pro669=) c.318T>C (p.Pro106=) | |
| 1 | g.99881348T>G | CA419314372 | AGL | c.2058T>G (p.Pro686=) n.2269T>G c.2010T>G (p.Pro670=) c.2007T>G (p.Pro669=) c.318T>G (p.Pro106=) | |
| 1 | g.99881349T>A | CA966685 | AGL | c.2059T>A (p.Ser687Thr) n.2270T>A c.2011T>A (p.Ser671Thr) c.2008T>A (p.Ser670Thr) c.319T>A (p.Ser107Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881349T>C | CA341318827 | AGL | c.2059T>C (p.Ser687Pro) n.2270T>C c.2011T>C (p.Ser671Pro) c.2008T>C (p.Ser670Pro) c.319T>C (p.Ser107Pro) | |
| 1 | g.99881349T>G | CA966684 | AGL | c.2059T>G (p.Ser687Ala) n.2270T>G c.2011T>G (p.Ser671Ala) c.2008T>G (p.Ser670Ala) c.319T>G (p.Ser107Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99881349T= | CA1148066158 | AGL | c.2059T= (p.Ser687=) n.2270T= c.2011T= (p.Ser671=) c.2008T= (p.Ser670=) c.319T= (p.Ser107=) |