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 |
|---|---|---|---|---|---|
| 15 | g.74896159C>A | CA221947 | MPI | c.678C>A (p.Ala226=) c.495C>A (p.Ala165=) c.528C>A (p.Ala176=) c.*574C>A (n.*574C>A) c.618C>A (p.Ala206=) c.256-1380C>A (n.256-1380C>A) c.345C>A (p.Ala115=) n.726C>A c.456C>A (p.Ala152=) c.666C>A (p.Ala222=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.74896159C= | CA2187901716 | MPI | c.678C= (p.Ala226=) c.495C= (p.Ala165=) c.528C= (p.Ala176=) c.*574C= (n.*574C=) c.618C= (p.Ala206=) c.256-1380C= (n.256-1380C=) c.345C= (p.Ala115=) n.726C= c.456C= (p.Ala152=) c.666C= (p.Ala222=) | |
| 15 | g.74896159C>G | CA491491359 | MPI | c.678C>G (p.Ala226=) c.495C>G (p.Ala165=) c.528C>G (p.Ala176=) c.*574C>G (n.*574C>G) c.618C>G (p.Ala206=) c.256-1380C>G (n.256-1380C>G) c.345C>G (p.Ala115=) n.726C>G c.456C>G (p.Ala152=) c.666C>G (p.Ala222=) | |
| 15 | g.74896159C>T | CA7662520 | MPI | c.678C>T (p.Ala226=) c.495C>T (p.Ala165=) c.528C>T (p.Ala176=) c.*574C>T (n.*574C>T) c.618C>T (p.Ala206=) c.256-1380C>T (n.256-1380C>T) c.345C>T (p.Ala115=) n.726C>T c.456C>T (p.Ala152=) c.666C>T (p.Ala222=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74896160G>A | CA7662521 | MPI | c.679G>A (p.Gly227Arg) c.496G>A (p.Gly166Arg) c.529G>A (p.Gly177Arg) c.*575G>A (n.*575G>A) c.619G>A (p.Gly207Arg) c.256-1379G>A (n.256-1379G>A) c.346G>A (p.Gly116Arg) n.727G>A c.457G>A (p.Gly153Arg) c.667G>A (p.Gly223Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.74896160G>C | CA393175770 | MPI | c.679G>C (p.Gly227Arg) c.496G>C (p.Gly166Arg) c.529G>C (p.Gly177Arg) c.*575G>C (n.*575G>C) c.619G>C (p.Gly207Arg) c.256-1379G>C (n.256-1379G>C) c.346G>C (p.Gly116Arg) n.727G>C c.457G>C (p.Gly153Arg) c.667G>C (p.Gly223Arg) | |
| 15 | g.74896160G= | CA2187901720 | MPI | c.679G= (p.Gly227=) c.496G= (p.Gly166=) c.529G= (p.Gly177=) c.*575G= (n.*575G=) c.619G= (p.Gly207=) c.256-1379G= (n.256-1379G=) c.346G= (p.Gly116=) n.727G= c.457G= (p.Gly153=) c.667G= (p.Gly223=) | |
| 15 | g.74896160G>T | CA393175771 | MPI | c.679G>T (p.Gly227Ter) c.496G>T (p.Gly166Ter) c.529G>T (p.Gly177Ter) c.*575G>T (n.*575G>T) c.619G>T (p.Gly207Ter) c.256-1379G>T (n.256-1379G>T) c.346G>T (p.Gly116Ter) n.727G>T c.457G>T (p.Gly153Ter) c.667G>T (p.Gly223Ter) | ClinVar gnomAD v4 |
| 15 | g.74896161G>A | CA393175772 | MPI | c.680G>A (p.Gly227Glu) c.497G>A (p.Gly166Glu) c.530G>A (p.Gly177Glu) c.*576G>A (n.*576G>A) c.620G>A (p.Gly207Glu) c.256-1378G>A (n.256-1378G>A) c.347G>A (p.Gly116Glu) n.728G>A c.458G>A (p.Gly153Glu) c.668G>A (p.Gly223Glu) | |
| 15 | g.74896161G>C | CA393175773 | MPI | c.680G>C (p.Gly227Ala) c.497G>C (p.Gly166Ala) c.530G>C (p.Gly177Ala) c.*576G>C (n.*576G>C) c.620G>C (p.Gly207Ala) c.256-1378G>C (n.256-1378G>C) c.347G>C (p.Gly116Ala) n.728G>C c.458G>C (p.Gly153Ala) c.668G>C (p.Gly223Ala) | |
| 15 | g.74896161G>T | CA393175774 | MPI | c.680G>T (p.Gly227Val) c.497G>T (p.Gly166Val) c.530G>T (p.Gly177Val) c.*576G>T (n.*576G>T) c.620G>T (p.Gly207Val) c.256-1378G>T (n.256-1378G>T) c.347G>T (p.Gly116Val) n.728G>T c.458G>T (p.Gly153Val) c.668G>T (p.Gly223Val) | gnomAD v4 |
| 15 | g.74896162A= | CA2187901725 | MPI | c.681A= (p.Gly227=) c.498A= (p.Gly166=) c.531A= (p.Gly177=) c.*577A= (n.*577A=) c.621A= (p.Gly207=) c.256-1377A= (n.256-1377A=) c.348A= (p.Gly116=) n.729A= c.459A= (p.Gly153=) c.669A= (p.Gly223=) | |
| 15 | g.74896162A>C | CA491491364 | MPI | c.681A>C (p.Gly227=) c.498A>C (p.Gly166=) c.531A>C (p.Gly177=) c.*577A>C (n.*577A>C) c.621A>C (p.Gly207=) c.256-1377A>C (n.256-1377A>C) c.348A>C (p.Gly116=) n.729A>C c.459A>C (p.Gly153=) c.669A>C (p.Gly223=) | gnomAD v4 |
| 15 | g.74896162A>G | CA491491362 | MPI | c.681A>G (p.Gly227=) c.498A>G (p.Gly166=) c.531A>G (p.Gly177=) c.*577A>G (n.*577A>G) c.621A>G (p.Gly207=) c.256-1377A>G (n.256-1377A>G) c.348A>G (p.Gly116=) n.729A>G c.459A>G (p.Gly153=) c.669A>G (p.Gly223=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.74896162A>T | CA491491363 | MPI | c.681A>T (p.Gly227=) c.498A>T (p.Gly166=) c.531A>T (p.Gly177=) c.*577A>T (n.*577A>T) c.621A>T (p.Gly207=) c.256-1377A>T (n.256-1377A>T) c.348A>T (p.Gly116=) n.729A>T c.459A>T (p.Gly153=) c.669A>T (p.Gly223=) | |
| 15 | g.74896162_74896165delinsAAAC | CA2187901724 | MPI | c.681_684delinsAAAC (p.Gly227=) c.498_501delinsAAAC (p.Gly166=) c.531_534delinsAAAC (p.Gly177=) c.*577_*580delinsAAAC (n.*577_*580delinsAAAC) c.621_624delinsAAAC (p.Gly207=) c.256-1377_256-1374delinsAAAC (n.256-1377_256-1374delinsAAAC) c.348_351delinsAAAC (p.Gly116=) n.729_732delinsAAAC c.459_462delinsAAAC (p.Gly153=) c.669_672delinsAAAC (p.Gly223=) | |
| 15 | g.74896163A>C | CA393175775 | MPI | c.682A>C (p.Asn228His) c.499A>C (p.Asn167His) c.532A>C (p.Asn178His) c.*578A>C (n.*578A>C) c.622A>C (p.Asn208His) c.256-1376A>C (n.256-1376A>C) c.349A>C (p.Asn117His) n.730A>C c.460A>C (p.Asn154His) c.670A>C (p.Asn224His) | |
| 15 | g.74896163A>G | CA393175776 | MPI | c.682A>G (p.Asn228Asp) c.499A>G (p.Asn167Asp) c.532A>G (p.Asn178Asp) c.*578A>G (n.*578A>G) c.622A>G (p.Asn208Asp) c.256-1376A>G (n.256-1376A>G) c.349A>G (p.Asn117Asp) n.730A>G c.460A>G (p.Asn154Asp) c.670A>G (p.Asn224Asp) | |
| 15 | g.74896163A>T | CA393175777 | MPI | c.682A>T (p.Asn228Tyr) c.499A>T (p.Asn167Tyr) c.532A>T (p.Asn178Tyr) c.*578A>T (n.*578A>T) c.622A>T (p.Asn208Tyr) c.256-1376A>T (n.256-1376A>T) c.349A>T (p.Asn117Tyr) n.730A>T c.460A>T (p.Asn154Tyr) c.670A>T (p.Asn224Tyr) | |
| 15 | g.74896167_74896169del | CA7662522 | MPI | c.686_688del (p.Asn229del) c.503_505del (p.Asn168del) c.536_538del (p.Asn179del) c.*582_*584del (n.*582_*584del) c.626_628del (p.Asn209del) c.256-1372_256-1370del (n.256-1372_256-1370del) c.353_355del (p.Asn118del) n.734_736del c.464_466del (p.Asn155del) c.674_676del (p.Asn225del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74896164A>C | CA393175778 | MPI | c.683A>C (p.Asn228Thr) c.500A>C (p.Asn167Thr) c.533A>C (p.Asn178Thr) c.*579A>C (n.*579A>C) c.623A>C (p.Asn208Thr) c.256-1375A>C (n.256-1375A>C) c.350A>C (p.Asn117Thr) n.731A>C c.461A>C (p.Asn154Thr) c.671A>C (p.Asn224Thr) | |
| 15 | g.74896164A>G | CA393175779 | MPI | c.683A>G (p.Asn228Ser) c.500A>G (p.Asn167Ser) c.533A>G (p.Asn178Ser) c.*579A>G (n.*579A>G) c.623A>G (p.Asn208Ser) c.256-1375A>G (n.256-1375A>G) c.350A>G (p.Asn117Ser) n.731A>G c.461A>G (p.Asn154Ser) c.671A>G (p.Asn224Ser) | |
| 15 | g.74896164A>T | CA393175780 | MPI | c.683A>T (p.Asn228Ile) c.500A>T (p.Asn167Ile) c.533A>T (p.Asn178Ile) c.*579A>T (n.*579A>T) c.623A>T (p.Asn208Ile) c.256-1375A>T (n.256-1375A>T) c.350A>T (p.Asn117Ile) n.731A>T c.461A>T (p.Asn154Ile) c.671A>T (p.Asn224Ile) | gnomAD v4 |
| 15 | g.74896165C>A | CA393175782 | MPI | c.684C>A (p.Asn228Lys) c.501C>A (p.Asn167Lys) c.534C>A (p.Asn178Lys) c.*580C>A (n.*580C>A) c.624C>A (p.Asn208Lys) c.256-1374C>A (n.256-1374C>A) c.351C>A (p.Asn117Lys) n.732C>A c.462C>A (p.Asn154Lys) c.672C>A (p.Asn224Lys) | |
| 15 | g.74896165C= | CA2187901736 | MPI | c.684C= (p.Asn228=) c.501C= (p.Asn167=) c.534C= (p.Asn178=) c.*580C= (n.*580C=) c.624C= (p.Asn208=) c.256-1374C= (n.256-1374C=) c.351C= (p.Asn117=) n.732C= c.462C= (p.Asn154=) c.672C= (p.Asn224=) | |
| 15 | g.74896165C>G | CA393175781 | MPI | c.684C>G (p.Asn228Lys) c.501C>G (p.Asn167Lys) c.534C>G (p.Asn178Lys) c.*580C>G (n.*580C>G) c.624C>G (p.Asn208Lys) c.256-1374C>G (n.256-1374C>G) c.351C>G (p.Asn117Lys) n.732C>G c.462C>G (p.Asn154Lys) c.672C>G (p.Asn224Lys) | |
| 15 | g.74896165C>T | CA180198 | MPI | c.684C>T (p.Asn228=) c.501C>T (p.Asn167=) c.534C>T (p.Asn178=) c.*580C>T (n.*580C>T) c.624C>T (p.Asn208=) c.256-1374C>T (n.256-1374C>T) c.351C>T (p.Asn117=) n.732C>T c.462C>T (p.Asn154=) c.672C>T (p.Asn224=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74896166A>C | CA393175784 | MPI | c.685A>C (p.Asn229His) c.502A>C (p.Asn168His) c.535A>C (p.Asn179His) c.*581A>C (n.*581A>C) c.625A>C (p.Asn209His) c.256-1373A>C (n.256-1373A>C) c.352A>C (p.Asn118His) n.733A>C c.463A>C (p.Asn155His) c.673A>C (p.Asn225His) | |
| 15 | g.74896166A>G | CA393175783 | MPI | c.685A>G (p.Asn229Asp) c.502A>G (p.Asn168Asp) c.535A>G (p.Asn179Asp) c.*581A>G (n.*581A>G) c.625A>G (p.Asn209Asp) c.256-1373A>G (n.256-1373A>G) c.352A>G (p.Asn118Asp) n.733A>G c.463A>G (p.Asn155Asp) c.673A>G (p.Asn225Asp) | gnomAD v4 |
| 15 | g.74896166A>T | CA393175785 | MPI | c.685A>T (p.Asn229Tyr) c.502A>T (p.Asn168Tyr) c.535A>T (p.Asn179Tyr) c.*581A>T (n.*581A>T) c.625A>T (p.Asn209Tyr) c.256-1373A>T (n.256-1373A>T) c.352A>T (p.Asn118Tyr) n.733A>T c.463A>T (p.Asn155Tyr) c.673A>T (p.Asn225Tyr) | |
| 15 | g.74896167A>C | CA393175786 | MPI | c.686A>C (p.Asn229Thr) c.503A>C (p.Asn168Thr) c.536A>C (p.Asn179Thr) c.*582A>C (n.*582A>C) c.626A>C (p.Asn209Thr) c.256-1372A>C (n.256-1372A>C) c.353A>C (p.Asn118Thr) n.734A>C c.464A>C (p.Asn155Thr) c.674A>C (p.Asn225Thr) | |
| 15 | g.74896167A>G | CA393175788 | MPI | c.686A>G (p.Asn229Ser) c.503A>G (p.Asn168Ser) c.536A>G (p.Asn179Ser) c.*582A>G (n.*582A>G) c.626A>G (p.Asn209Ser) c.256-1372A>G (n.256-1372A>G) c.353A>G (p.Asn118Ser) n.734A>G c.464A>G (p.Asn155Ser) c.674A>G (p.Asn225Ser) | |
| 15 | g.74896167A>T | CA393175787 | MPI | c.686A>T (p.Asn229Ile) c.503A>T (p.Asn168Ile) c.536A>T (p.Asn179Ile) c.*582A>T (n.*582A>T) c.626A>T (p.Asn209Ile) c.256-1372A>T (n.256-1372A>T) c.353A>T (p.Asn118Ile) n.734A>T c.464A>T (p.Asn155Ile) c.674A>T (p.Asn225Ile) | |
| 15 | g.74896168C>A | CA393175789 | MPI | c.687C>A (p.Asn229Lys) c.504C>A (p.Asn168Lys) c.537C>A (p.Asn179Lys) c.*583C>A (n.*583C>A) c.627C>A (p.Asn209Lys) c.256-1371C>A (n.256-1371C>A) c.354C>A (p.Asn118Lys) n.735C>A c.465C>A (p.Asn155Lys) c.675C>A (p.Asn225Lys) | |
| 15 | g.74896168C>G | CA393175790 | MPI | c.687C>G (p.Asn229Lys) c.504C>G (p.Asn168Lys) c.537C>G (p.Asn179Lys) c.*583C>G (n.*583C>G) c.627C>G (p.Asn209Lys) c.256-1371C>G (n.256-1371C>G) c.354C>G (p.Asn118Lys) n.735C>G c.465C>G (p.Asn155Lys) c.675C>G (p.Asn225Lys) | |
| 15 | g.74896168C>T | CA491491369 | MPI | c.687C>T (p.Asn229=) c.504C>T (p.Asn168=) c.537C>T (p.Asn179=) c.*583C>T (n.*583C>T) c.627C>T (p.Asn209=) c.256-1371C>T (n.256-1371C>T) c.354C>T (p.Asn118=) n.735C>T c.465C>T (p.Asn155=) c.675C>T (p.Asn225=) | |
| 15 | g.74896169A>C | CA393175791 | MPI | c.688A>C (p.Met230Leu) c.505A>C (p.Met169Leu) c.538A>C (p.Met180Leu) c.*584A>C (n.*584A>C) c.628A>C (p.Met210Leu) c.256-1370A>C (n.256-1370A>C) c.355A>C (p.Met119Leu) n.736A>C c.466A>C (p.Met156Leu) c.676A>C (p.Met226Leu) | |
| 15 | g.74896169A>G | CA393175793 | MPI | c.688A>G (p.Met230Val) c.505A>G (p.Met169Val) c.538A>G (p.Met180Val) c.*584A>G (n.*584A>G) c.628A>G (p.Met210Val) c.256-1370A>G (n.256-1370A>G) c.355A>G (p.Met119Val) n.736A>G c.466A>G (p.Met156Val) c.676A>G (p.Met226Val) | gnomAD v4 |
| 15 | g.74896169A>T | CA393175792 | MPI | c.688A>T (p.Met230Leu) c.505A>T (p.Met169Leu) c.538A>T (p.Met180Leu) c.*584A>T (n.*584A>T) c.628A>T (p.Met210Leu) c.256-1370A>T (n.256-1370A>T) c.355A>T (p.Met119Leu) n.736A>T c.466A>T (p.Met156Leu) c.676A>T (p.Met226Leu) | |
| 15 | g.74896170T>A | CA272825414 | MPI | c.689T>A (p.Met230Lys) c.506T>A (p.Met169Lys) c.539T>A (p.Met180Lys) c.*585T>A (n.*585T>A) c.629T>A (p.Met210Lys) c.256-1369T>A (n.256-1369T>A) c.356T>A (p.Met119Lys) n.737T>A c.467T>A (p.Met156Lys) c.677T>A (p.Met226Lys) | dbSNP |
| 15 | g.74896170T>C | CA7662523 | MPI | c.689T>C (p.Met230Thr) c.506T>C (p.Met169Thr) c.539T>C (p.Met180Thr) c.*585T>C (n.*585T>C) c.629T>C (p.Met210Thr) c.256-1369T>C (n.256-1369T>C) c.356T>C (p.Met119Thr) n.737T>C c.467T>C (p.Met156Thr) c.677T>C (p.Met226Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74896170T>G | CA393175794 | MPI | c.689T>G (p.Met230Arg) c.506T>G (p.Met169Arg) c.539T>G (p.Met180Arg) c.*585T>G (n.*585T>G) c.629T>G (p.Met210Arg) c.256-1369T>G (n.256-1369T>G) c.356T>G (p.Met119Arg) n.737T>G c.467T>G (p.Met156Arg) c.677T>G (p.Met226Arg) | |
| 15 | g.74896170T= | CA2187901739 | MPI | c.689T= (p.Met230=) c.506T= (p.Met169=) c.539T= (p.Met180=) c.*585T= (n.*585T=) c.629T= (p.Met210=) c.256-1369T= (n.256-1369T=) c.356T= (p.Met119=) n.737T= c.467T= (p.Met156=) c.677T= (p.Met226=) | |
| 15 | g.74896171G>A | CA393175795 | MPI | c.690G>A (p.Met230Ile) c.507G>A (p.Met169Ile) c.540G>A (p.Met180Ile) c.*586G>A (n.*586G>A) c.630G>A (p.Met210Ile) c.256-1368G>A (n.256-1368G>A) c.357G>A (p.Met119Ile) n.738G>A c.468G>A (p.Met156Ile) c.678G>A (p.Met226Ile) | gnomAD v4 |
| 15 | g.74896171G>C | CA393175796 | MPI | c.690G>C (p.Met230Ile) c.507G>C (p.Met169Ile) c.540G>C (p.Met180Ile) c.*586G>C (n.*586G>C) c.630G>C (p.Met210Ile) c.256-1368G>C (n.256-1368G>C) c.357G>C (p.Met119Ile) n.738G>C c.468G>C (p.Met156Ile) c.678G>C (p.Met226Ile) | |
| 15 | g.74896171G>T | CA393175797 | MPI | c.690G>T (p.Met230Ile) c.507G>T (p.Met169Ile) c.540G>T (p.Met180Ile) c.*586G>T (n.*586G>T) c.630G>T (p.Met210Ile) c.256-1368G>T (n.256-1368G>T) c.357G>T (p.Met119Ile) n.738G>T c.468G>T (p.Met156Ile) c.678G>T (p.Met226Ile) | gnomAD v4 |
| 15 | g.74896172G>A | CA393175798 | MPI | c.691G>A (p.Glu231Lys) c.508G>A (p.Glu170Lys) c.541G>A (p.Glu181Lys) c.*587G>A (n.*587G>A) c.631G>A (p.Glu211Lys) c.256-1367G>A (n.256-1367G>A) c.358G>A (p.Glu120Lys) n.739G>A c.469G>A (p.Glu157Lys) c.679G>A (p.Glu227Lys) | |
| 15 | g.74896172G>C | CA393175799 | MPI | c.691G>C (p.Glu231Gln) c.508G>C (p.Glu170Gln) c.541G>C (p.Glu181Gln) c.*587G>C (n.*587G>C) c.631G>C (p.Glu211Gln) c.256-1367G>C (n.256-1367G>C) c.358G>C (p.Glu120Gln) n.739G>C c.469G>C (p.Glu157Gln) c.679G>C (p.Glu227Gln) | |
| 15 | g.74896172G>T | CA393175800 | MPI | c.691G>T (p.Glu231Ter) c.508G>T (p.Glu170Ter) c.541G>T (p.Glu181Ter) c.*587G>T (n.*587G>T) c.631G>T (p.Glu211Ter) c.256-1367G>T (n.256-1367G>T) c.358G>T (p.Glu120Ter) n.739G>T c.469G>T (p.Glu157Ter) c.679G>T (p.Glu227Ter) | |
| 15 | g.74896173A>C | CA393175801 | MPI | c.692A>C (p.Glu231Ala) c.509A>C (p.Glu170Ala) c.542A>C (p.Glu181Ala) c.*588A>C (n.*588A>C) c.632A>C (p.Glu211Ala) c.256-1366A>C (n.256-1366A>C) c.359A>C (p.Glu120Ala) n.740A>C c.470A>C (p.Glu157Ala) c.680A>C (p.Glu227Ala) |