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 |
|---|---|---|---|---|---|
| 5 | g.112801360_112801367del | CA658760440 | APC | c.811_818del (p.Met271PhefsTer3) n.867_874del c.*817_*824del (n.*817_*824del) c.757_764del (p.Met253PhefsTer3) c.841_848del (p.Met281PhefsTer3) c.736_743del (p.Met246PhefsTer3) c.727_734del (p.Met243PhefsTer3) c.634_641del (p.Met212PhefsTer3) c.-225_-218del (n.-225_-218del) | |
| 5 | g.112801358A= | CA1573510224 | APC | c.809A= (p.Asn270=) n.865A= c.*815A= (n.*815A=) c.755A= (p.Asn252=) c.839A= (p.Asn280=) c.734A= (p.Asn245=) c.725A= (p.Asn242=) c.632A= (p.Asn211=) c.-227A= (n.-227A=) | |
| 5 | g.112801358A>C | CA049883 | APC | c.809A>C (p.Asn270Thr) n.865A>C c.*815A>C (n.*815A>C) c.755A>C (p.Asn252Thr) c.839A>C (p.Asn280Thr) c.734A>C (p.Asn245Thr) c.725A>C (p.Asn242Thr) c.632A>C (p.Asn211Thr) c.-227A>C (n.-227A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112801358A>G | CA049906 | APC | c.809A>G (p.Asn270Ser) n.865A>G c.*815A>G (n.*815A>G) c.755A>G (p.Asn252Ser) c.839A>G (p.Asn280Ser) c.734A>G (p.Asn245Ser) c.725A>G (p.Asn242Ser) c.632A>G (p.Asn211Ser) c.-227A>G (n.-227A>G) | ClinVar dbSNP ExAC gnomAD v4 |
| 5 | g.112801358A>T | CA16023099 | APC | c.809A>T (p.Asn270Ile) n.865A>T c.*815A>T (n.*815A>T) c.755A>T (p.Asn252Ile) c.839A>T (p.Asn280Ile) c.734A>T (p.Asn245Ile) c.725A>T (p.Asn242Ile) c.632A>T (p.Asn211Ile) c.-227A>T (n.-227A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.112801359C>A | CA16023100 | APC | c.810C>A (p.Asn270Lys) n.866C>A c.*816C>A (n.*816C>A) c.756C>A (p.Asn252Lys) c.840C>A (p.Asn280Lys) c.735C>A (p.Asn245Lys) c.726C>A (p.Asn242Lys) c.633C>A (p.Asn211Lys) c.-226C>A (n.-226C>A) | ClinVar |
| 5 | g.112801359C= | CA1573510227 | APC | c.810C= (p.Asn270=) n.866C= c.*816C= (n.*816C=) c.756C= (p.Asn252=) c.840C= (p.Asn280=) c.735C= (p.Asn245=) c.726C= (p.Asn242=) c.633C= (p.Asn211=) c.-226C= (n.-226C=) | |
| 5 | g.112801359C>G | CA16023101 | APC | c.810C>G (p.Asn270Lys) n.866C>G c.*816C>G (n.*816C>G) c.756C>G (p.Asn252Lys) c.840C>G (p.Asn280Lys) c.735C>G (p.Asn245Lys) c.726C>G (p.Asn242Lys) c.633C>G (p.Asn211Lys) c.-226C>G (n.-226C>G) | ClinVar dbSNP |
| 5 | g.112801359C>T | CA445755644 | APC | c.810C>T (p.Asn270=) n.866C>T c.*816C>T (n.*816C>T) c.756C>T (p.Asn252=) c.840C>T (p.Asn280=) c.735C>T (p.Asn245=) c.726C>T (p.Asn242=) c.633C>T (p.Asn211=) c.-226C>T (n.-226C>T) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112801360A= | CA1573510235 | APC | c.811A= (p.Met271=) n.867A= c.*817A= (n.*817A=) c.757A= (p.Met253=) c.841A= (p.Met281=) c.736A= (p.Met246=) c.727A= (p.Met243=) c.634A= (p.Met212=) c.-225A= (n.-225A=) | |
| 5 | g.112801360A>C | CA16023102 | APC | c.811A>C (p.Met271Leu) n.867A>C c.*817A>C (n.*817A>C) c.757A>C (p.Met253Leu) c.841A>C (p.Met281Leu) c.736A>C (p.Met246Leu) c.727A>C (p.Met243Leu) c.634A>C (p.Met212Leu) c.-225A>C (n.-225A>C) | ClinVar dbSNP |
| 5 | g.112801360A>G | CA014344 | APC | c.811A>G (p.Met271Val) n.867A>G c.*817A>G (n.*817A>G) c.757A>G (p.Met253Val) c.841A>G (p.Met281Val) c.736A>G (p.Met246Val) c.727A>G (p.Met243Val) c.634A>G (p.Met212Val) c.-225A>G (n.-225A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112801360A>T | CA16023103 | APC | c.811A>T (p.Met271Leu) n.867A>T c.*817A>T (n.*817A>T) c.757A>T (p.Met253Leu) c.841A>T (p.Met281Leu) c.736A>T (p.Met246Leu) c.727A>T (p.Met243Leu) c.634A>T (p.Met212Leu) c.-225A>T (n.-225A>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.112801361del | CA658760442 | APC | c.812del (p.Met271ArgfsTer22) n.868del c.*818del (n.*818del) c.758del (p.Met253ArgfsTer22) c.812del (p.Met271ArgfsTer9) c.842del (p.Met281ArgfsTer22) c.737del (p.Met246ArgfsTer22) c.728del (p.Met243ArgfsTer22) c.635del (p.Met212ArgfsTer22) c.-224del (n.-224del) | |
| 5 | g.112801361T>A | CA16023104 | APC | c.812T>A (p.Met271Lys) n.868T>A c.*818T>A (n.*818T>A) c.758T>A (p.Met253Lys) c.842T>A (p.Met281Lys) c.737T>A (p.Met246Lys) c.728T>A (p.Met243Lys) c.635T>A (p.Met212Lys) c.-224T>A (n.-224T>A) | ClinVar dbSNP |
| 5 | g.112801361T>C | CA16023105 | APC | c.812T>C (p.Met271Thr) n.868T>C c.*818T>C (n.*818T>C) c.758T>C (p.Met253Thr) c.842T>C (p.Met281Thr) c.737T>C (p.Met246Thr) c.728T>C (p.Met243Thr) c.635T>C (p.Met212Thr) c.-224T>C (n.-224T>C) | |
| 5 | g.112801361T>G | CA16023106 | APC | c.812T>G (p.Met271Arg) n.868T>G c.*818T>G (n.*818T>G) c.758T>G (p.Met253Arg) c.842T>G (p.Met281Arg) c.737T>G (p.Met246Arg) c.728T>G (p.Met243Arg) c.635T>G (p.Met212Arg) c.-224T>G (n.-224T>G) | |
| 5 | g.112801361T= | CA1573510247 | APC | c.812T= (p.Met271=) n.868T= c.*818T= (n.*818T=) c.758T= (p.Met253=) c.842T= (p.Met281=) c.737T= (p.Met246=) c.728T= (p.Met243=) c.635T= (p.Met212=) c.-224T= (n.-224T=) | |
| 5 | g.112801362G>A | CA16023107 | APC | c.813G>A (p.Met271Ile) n.869G>A c.*819G>A (n.*819G>A) c.759G>A (p.Met253Ile) c.843G>A (p.Met281Ile) c.738G>A (p.Met246Ile) c.729G>A (p.Met243Ile) c.636G>A (p.Met212Ile) c.-223G>A (n.-223G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.112801362G>C | CA16023108 | APC | c.813G>C (p.Met271Ile) n.869G>C c.*819G>C (n.*819G>C) c.759G>C (p.Met253Ile) c.843G>C (p.Met281Ile) c.738G>C (p.Met246Ile) c.729G>C (p.Met243Ile) c.636G>C (p.Met212Ile) c.-223G>C (n.-223G>C) | dbSNP |
| 5 | g.112801362G= | CA1573510251 | APC | c.813G= (p.Met271=) n.869G= c.*819G= (n.*819G=) c.759G= (p.Met253=) c.843G= (p.Met281=) c.738G= (p.Met246=) c.729G= (p.Met243=) c.636G= (p.Met212=) c.-223G= (n.-223G=) | |
| 5 | g.112801362G>T | CA16023109 | APC | c.813G>T (p.Met271Ile) n.869G>T c.*819G>T (n.*819G>T) c.759G>T (p.Met253Ile) c.843G>T (p.Met281Ile) c.738G>T (p.Met246Ile) c.729G>T (p.Met243Ile) c.636G>T (p.Met212Ile) c.-223G>T (n.-223G>T) | |
| 5 | g.112801363G>A | CA16023110 | APC | c.814G>A (p.Ala272Thr) n.870G>A c.*820G>A (n.*820G>A) c.760G>A (p.Ala254Thr) c.844G>A (p.Ala282Thr) c.739G>A (p.Ala247Thr) c.730G>A (p.Ala244Thr) c.637G>A (p.Ala213Thr) c.-222G>A (n.-222G>A) | dbSNP |
| 5 | g.112801363G>C | CA10582282 | APC | c.814G>C (p.Ala272Pro) n.870G>C c.*820G>C (n.*820G>C) c.760G>C (p.Ala254Pro) c.844G>C (p.Ala282Pro) c.739G>C (p.Ala247Pro) c.730G>C (p.Ala244Pro) c.637G>C (p.Ala213Pro) c.-222G>C (n.-222G>C) | ClinVar dbSNP |
| 5 | g.112801363G= | CA1573510257 | APC | c.814G= (p.Ala272=) n.870G= c.*820G= (n.*820G=) c.760G= (p.Ala254=) c.844G= (p.Ala282=) c.739G= (p.Ala247=) c.730G= (p.Ala244=) c.637G= (p.Ala213=) c.-222G= (n.-222G=) | |
| 5 | g.112801363G>T | CA16023111 | APC | c.814G>T (p.Ala272Ser) n.870G>T c.*820G>T (n.*820G>T) c.760G>T (p.Ala254Ser) c.844G>T (p.Ala282Ser) c.739G>T (p.Ala247Ser) c.730G>T (p.Ala244Ser) c.637G>T (p.Ala213Ser) c.-222G>T (n.-222G>T) | ClinVar dbSNP |
| 5 | g.112801364C>A | CA16023112 | APC | c.815C>A (p.Ala272Glu) n.871C>A c.*821C>A (n.*821C>A) c.761C>A (p.Ala254Glu) c.845C>A (p.Ala282Glu) c.740C>A (p.Ala247Glu) c.731C>A (p.Ala244Glu) c.638C>A (p.Ala213Glu) c.-221C>A (n.-221C>A) | |
| 5 | g.112801364C>G | CA16023113 | APC | c.815C>G (p.Ala272Gly) n.871C>G c.*821C>G (n.*821C>G) c.761C>G (p.Ala254Gly) c.845C>G (p.Ala282Gly) c.740C>G (p.Ala247Gly) c.731C>G (p.Ala244Gly) c.638C>G (p.Ala213Gly) c.-221C>G (n.-221C>G) | dbSNP |
| 5 | g.112801364C>T | CA16023114 | APC | c.815C>T (p.Ala272Val) n.871C>T c.*821C>T (n.*821C>T) c.761C>T (p.Ala254Val) c.845C>T (p.Ala282Val) c.740C>T (p.Ala247Val) c.731C>T (p.Ala244Val) c.638C>T (p.Ala213Val) c.-221C>T (n.-221C>T) | dbSNP |
| 5 | g.112801365A>C | CA445755645 | APC | c.816A>C (p.Ala272=) n.872A>C c.*822A>C (n.*822A>C) c.762A>C (p.Ala254=) c.846A>C (p.Ala282=) c.741A>C (p.Ala247=) c.732A>C (p.Ala244=) c.639A>C (p.Ala213=) c.-220A>C (n.-220A>C) | |
| 5 | g.112801365A>G | CA445755646 | APC | c.816A>G (p.Ala272=) n.872A>G c.*822A>G (n.*822A>G) c.762A>G (p.Ala254=) c.846A>G (p.Ala282=) c.741A>G (p.Ala247=) c.732A>G (p.Ala244=) c.639A>G (p.Ala213=) c.-220A>G (n.-220A>G) | |
| 5 | g.112801365A>T | CA445755647 | APC | c.816A>T (p.Ala272=) n.872A>T c.*822A>T (n.*822A>T) c.762A>T (p.Ala254=) c.846A>T (p.Ala282=) c.741A>T (p.Ala247=) c.732A>T (p.Ala244=) c.639A>T (p.Ala213=) c.-220A>T (n.-220A>T) | |
| 5 | g.112801366A= | CA1573510262 | APC | c.817A= (p.Thr273=) n.873A= c.*823A= (n.*823A=) c.763A= (p.Thr255=) c.847A= (p.Thr283=) c.742A= (p.Thr248=) c.733A= (p.Thr245=) c.640A= (p.Thr214=) c.-219A= (n.-219A=) | |
| 5 | g.112801366A>C | CA16023115 | APC | c.817A>C (p.Thr273Pro) n.873A>C c.*823A>C (n.*823A>C) c.763A>C (p.Thr255Pro) c.847A>C (p.Thr283Pro) c.742A>C (p.Thr248Pro) c.733A>C (p.Thr245Pro) c.640A>C (p.Thr214Pro) c.-219A>C (n.-219A>C) | |
| 5 | g.112801366A>G | CA050094 | APC | c.817A>G (p.Thr273Ala) n.873A>G c.*823A>G (n.*823A>G) c.763A>G (p.Thr255Ala) c.847A>G (p.Thr283Ala) c.742A>G (p.Thr248Ala) c.733A>G (p.Thr245Ala) c.640A>G (p.Thr214Ala) c.-219A>G (n.-219A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.112801366A>T | CA16023116 | APC | c.817A>T (p.Thr273Ser) n.873A>T c.*823A>T (n.*823A>T) c.763A>T (p.Thr255Ser) c.847A>T (p.Thr283Ser) c.742A>T (p.Thr248Ser) c.733A>T (p.Thr245Ser) c.640A>T (p.Thr214Ser) c.-219A>T (n.-219A>T) | dbSNP |
| 5 | g.112801367C>A | CA16023117 | APC | c.818C>A (p.Thr273Asn) n.874C>A c.*824C>A (n.*824C>A) c.764C>A (p.Thr255Asn) c.848C>A (p.Thr283Asn) c.743C>A (p.Thr248Asn) c.734C>A (p.Thr245Asn) c.641C>A (p.Thr214Asn) c.-218C>A (n.-218C>A) | |
| 5 | g.112801367C= | CA1573510268 | APC | c.818C= (p.Thr273=) n.874C= c.*824C= (n.*824C=) c.764C= (p.Thr255=) c.848C= (p.Thr283=) c.743C= (p.Thr248=) c.734C= (p.Thr245=) c.641C= (p.Thr214=) c.-218C= (n.-218C=) | |
| 5 | g.112801367C>G | CA16023118 | APC | c.818C>G (p.Thr273Ser) n.874C>G c.*824C>G (n.*824C>G) c.764C>G (p.Thr255Ser) c.848C>G (p.Thr283Ser) c.743C>G (p.Thr248Ser) c.734C>G (p.Thr245Ser) c.641C>G (p.Thr214Ser) c.-218C>G (n.-218C>G) | ClinVar dbSNP |
| 5 | g.112801367C>T | CA16023119 | APC | c.818C>T (p.Thr273Ile) n.874C>T c.*824C>T (n.*824C>T) c.764C>T (p.Thr255Ile) c.848C>T (p.Thr283Ile) c.743C>T (p.Thr248Ile) c.734C>T (p.Thr245Ile) c.641C>T (p.Thr214Ile) c.-218C>T (n.-218C>T) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112801368T>A | CA445755648 | APC | c.819T>A (p.Thr273=) n.875T>A c.*825T>A (n.*825T>A) c.765T>A (p.Thr255=) c.849T>A (p.Thr283=) c.744T>A (p.Thr248=) c.735T>A (p.Thr245=) c.642T>A (p.Thr214=) c.-217T>A (n.-217T>A) | dbSNP |
| 5 | g.112801368T>C | CA445755649 | APC | c.819T>C (p.Thr273=) n.875T>C c.*825T>C (n.*825T>C) c.765T>C (p.Thr255=) c.849T>C (p.Thr283=) c.744T>C (p.Thr248=) c.735T>C (p.Thr245=) c.642T>C (p.Thr214=) c.-217T>C (n.-217T>C) | ClinVar dbSNP |
| 5 | g.112801368T>G | CA445755650 | APC | c.819T>G (p.Thr273=) n.875T>G c.*825T>G (n.*825T>G) c.765T>G (p.Thr255=) c.849T>G (p.Thr283=) c.744T>G (p.Thr248=) c.735T>G (p.Thr245=) c.642T>G (p.Thr214=) c.-217T>G (n.-217T>G) | |
| 5 | g.112801369T>A | CA16023120 | APC | c.820T>A (p.Ser274Thr) n.876T>A c.*826T>A (n.*826T>A) c.766T>A (p.Ser256Thr) c.850T>A (p.Ser284Thr) c.745T>A (p.Ser249Thr) c.736T>A (p.Ser246Thr) c.643T>A (p.Ser215Thr) c.-216T>A (n.-216T>A) | |
| 5 | g.112801369T>C | CA16023121 | APC | c.820T>C (p.Ser274Pro) n.876T>C c.*826T>C (n.*826T>C) c.766T>C (p.Ser256Pro) c.850T>C (p.Ser284Pro) c.745T>C (p.Ser249Pro) c.736T>C (p.Ser246Pro) c.643T>C (p.Ser215Pro) c.-216T>C (n.-216T>C) | |
| 5 | g.112801369T>G | CA16023122 | APC | c.820T>G (p.Ser274Ala) n.876T>G c.*826T>G (n.*826T>G) c.766T>G (p.Ser256Ala) c.850T>G (p.Ser284Ala) c.745T>G (p.Ser249Ala) c.736T>G (p.Ser246Ala) c.643T>G (p.Ser215Ala) c.-216T>G (n.-216T>G) | ClinVar dbSNP |
| 5 | g.112801369T= | CA1573510274 | APC | c.820T= (p.Ser274=) n.876T= c.*826T= (n.*826T=) c.766T= (p.Ser256=) c.850T= (p.Ser284=) c.745T= (p.Ser249=) c.736T= (p.Ser246=) c.643T= (p.Ser215=) c.-216T= (n.-216T=) | |
| 5 | g.112801370del | CA2582341412 | APC | c.821del (p.Ser274LeufsTer19) n.877del c.*827del (n.*827del) c.767del (p.Ser256LeufsTer19) c.821del (p.Ser274LeufsTer6) c.851del (p.Ser284LeufsTer19) c.746del (p.Ser249LeufsTer19) c.737del (p.Ser246LeufsTer19) c.644del (p.Ser215LeufsTer19) c.-215del (n.-215del) | ClinVar |
| 5 | g.112801370C>A | CA16023123 | APC | c.821C>A (p.Ser274Tyr) n.877C>A c.*827C>A (n.*827C>A) c.767C>A (p.Ser256Tyr) c.851C>A (p.Ser284Tyr) c.746C>A (p.Ser249Tyr) c.737C>A (p.Ser246Tyr) c.644C>A (p.Ser215Tyr) c.-215C>A (n.-215C>A) | |
| 5 | g.112801370C>G | CA16023124 | APC | c.821C>G (p.Ser274Cys) n.877C>G c.*827C>G (n.*827C>G) c.767C>G (p.Ser256Cys) c.851C>G (p.Ser284Cys) c.746C>G (p.Ser249Cys) c.737C>G (p.Ser246Cys) c.644C>G (p.Ser215Cys) c.-215C>G (n.-215C>G) | dbSNP |