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.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=) | |
| 1 | g.99881350C>A | CA341318837 | AGL | c.2060C>A (p.Ser687Ter) n.2271C>A c.2012C>A (p.Ser671Ter) c.2009C>A (p.Ser670Ter) c.320C>A (p.Ser107Ter) | |
| 1 | g.99881350C>G | CA341318839 | AGL | c.2060C>G (p.Ser687Ter) n.2271C>G c.2012C>G (p.Ser671Ter) c.2009C>G (p.Ser670Ter) c.320C>G (p.Ser107Ter) | |
| 1 | g.99881350C>T | CA341318840 | AGL | c.2060C>T (p.Ser687Leu) n.2271C>T c.2012C>T (p.Ser671Leu) c.2009C>T (p.Ser670Leu) c.320C>T (p.Ser107Leu) | |
| 1 | g.99881352_99881355del | CA2580063404 | AGL | c.2062_2065del (p.Asn688GlnfsTer?) n.2273_2276del c.2014_2017del (p.Asn672GlnfsTer?) c.2011_2014del (p.Asn671GlnfsTer?) c.322_325del (p.Asn108GlnfsTer?) | ClinVar |
| 1 | g.99881351A>C | CA419314374 | AGL | c.2061A>C (p.Ser687=) n.2272A>C c.2013A>C (p.Ser671=) c.2010A>C (p.Ser670=) c.321A>C (p.Ser107=) | |
| 1 | g.99881351A>G | CA419314375 | AGL | c.2061A>G (p.Ser687=) n.2272A>G c.2013A>G (p.Ser671=) c.2010A>G (p.Ser670=) c.321A>G (p.Ser107=) | |
| 1 | g.99881351A>T | CA419314376 | AGL | c.2061A>T (p.Ser687=) n.2272A>T c.2013A>T (p.Ser671=) c.2010A>T (p.Ser670=) c.321A>T (p.Ser107=) | |
| 1 | g.99881352A>C | CA341318841 | AGL | c.2062A>C (p.Asn688His) n.2273A>C c.2014A>C (p.Asn672His) c.2011A>C (p.Asn671His) c.322A>C (p.Asn108His) | |
| 1 | g.99881352A>G | CA341318842 | AGL | c.2062A>G (p.Asn688Asp) n.2273A>G c.2014A>G (p.Asn672Asp) c.2011A>G (p.Asn671Asp) c.322A>G (p.Asn108Asp) | |
| 1 | g.99881352A>T | CA341318843 | AGL | c.2062A>T (p.Asn688Tyr) n.2273A>T c.2014A>T (p.Asn672Tyr) c.2011A>T (p.Asn671Tyr) c.322A>T (p.Asn108Tyr) | |
| 1 | g.99881353A>C | CA341318854 | AGL | c.2063A>C (p.Asn688Thr) n.2274A>C c.2015A>C (p.Asn672Thr) c.2012A>C (p.Asn671Thr) c.323A>C (p.Asn108Thr) | |
| 1 | g.99881353A>G | CA341318844 | AGL | c.2063A>G (p.Asn688Ser) n.2274A>G c.2015A>G (p.Asn672Ser) c.2012A>G (p.Asn671Ser) c.323A>G (p.Asn108Ser) | gnomAD v4 |
| 1 | g.99881353A>T | CA341318845 | AGL | c.2063A>T (p.Asn688Ile) n.2274A>T c.2015A>T (p.Asn672Ile) c.2012A>T (p.Asn671Ile) c.323A>T (p.Asn108Ile) | |
| 1 | g.99881354C>A | CA341318866 | AGL | c.2064C>A (p.Asn688Lys) n.2275C>A c.2016C>A (p.Asn672Lys) c.2013C>A (p.Asn671Lys) c.324C>A (p.Asn108Lys) | |
| 1 | g.99881354C= | CA1183929296 | AGL | c.2064C= (p.Asn688=) n.2275C= c.2016C= (p.Asn672=) c.2013C= (p.Asn671=) c.324C= (p.Asn108=) | |
| 1 | g.99881354C>G | CA341318868 | AGL | c.2064C>G (p.Asn688Lys) n.2275C>G c.2016C>G (p.Asn672Lys) c.2013C>G (p.Asn671Lys) c.324C>G (p.Asn108Lys) | |
| 1 | g.99881354C>T | CA419314377 | AGL | c.2064C>T (p.Asn688=) n.2275C>T c.2016C>T (p.Asn672=) c.2013C>T (p.Asn671=) c.324C>T (p.Asn108=) | dbSNP |
| 1 | g.99881355A>C | CA341318871 | AGL | c.2065A>C (p.Thr689Pro) n.2276A>C c.2017A>C (p.Thr673Pro) c.2014A>C (p.Thr672Pro) c.325A>C (p.Thr109Pro) |