WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.4683472C>A | CA351650683 | ITPR1 | c.3221C>A (p.Pro1074Gln) c.3203C>A (p.Pro1068Gln) c.3176C>A (p.Pro1059Gln) c.996+29586C>A (n.996+29586C>A) n.749C>A c.1058C>A (p.Pro353Gln) c.156C>A c.550C>A c.3248C>A (p.Pro1083Gln) | |
| 3 | g.4683472C= | CA1342287231 | ITPR1 | c.3221C= (p.Pro1074=) c.3203C= (p.Pro1068=) c.3176C= (p.Pro1059=) c.996+29586C= (n.996+29586C=) n.749C= c.1058C= (p.Pro353=) c.156C= c.550C= c.3248C= (p.Pro1083=) | |
| 3 | g.4683472C>G | CA351650682 | ITPR1 | c.3221C>G (p.Pro1074Arg) c.3203C>G (p.Pro1068Arg) c.3176C>G (p.Pro1059Arg) c.996+29586C>G (n.996+29586C>G) n.749C>G c.1058C>G (p.Pro353Arg) c.156C>G c.550C>G c.3248C>G (p.Pro1083Arg) | |
| 3 | g.4683472C>T | CA341334 | ITPR1 | c.3221C>T (p.Pro1074Leu) c.3203C>T (p.Pro1068Leu) c.3176C>T (p.Pro1059Leu) c.996+29586C>T (n.996+29586C>T) n.749C>T c.1058C>T (p.Pro353Leu) c.156C>T c.550C>T c.3248C>T (p.Pro1083Leu) | ClinVar dbSNP |
| 3 | g.4683473A= | CA1342287246 | ITPR1 | c.3222A= (p.Pro1074=) c.3204A= (p.Pro1068=) c.3177A= (p.Pro1059=) c.996+29587A= (n.996+29587A=) n.750A= c.1059A= (p.Pro353=) c.157A= c.551A= c.3249A= (p.Pro1083=) | |
| 3 | g.4683473A>C | CA432321509 | ITPR1 | c.3222A>C (p.Pro1074=) c.3204A>C (p.Pro1068=) c.3177A>C (p.Pro1059=) c.996+29587A>C (n.996+29587A>C) n.750A>C c.1059A>C (p.Pro353=) c.157A>C c.551A>C c.3249A>C (p.Pro1083=) | |
| 3 | g.4683473A>G | CA2231632 | ITPR1 | c.3222A>G (p.Pro1074=) c.3204A>G (p.Pro1068=) c.3177A>G (p.Pro1059=) c.996+29587A>G (n.996+29587A>G) n.750A>G c.1059A>G (p.Pro353=) c.157A>G c.551A>G c.3249A>G (p.Pro1083=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.4683473A>T | CA432321507 | ITPR1 | c.3222A>T (p.Pro1074=) c.3204A>T (p.Pro1068=) c.3177A>T (p.Pro1059=) c.996+29587A>T (n.996+29587A>T) n.750A>T c.1059A>T (p.Pro353=) c.157A>T c.551A>T c.3249A>T (p.Pro1083=) | |
| 3 | g.4683474C>A | CA2231633 | ITPR1 | c.3223C>A (p.Pro1075Thr) c.3205C>A (p.Pro1069Thr) c.3178C>A (p.Pro1060Thr) c.996+29588C>A (n.996+29588C>A) n.751C>A c.1060C>A (p.Pro354Thr) c.158C>A c.552C>A c.3250C>A (p.Pro1084Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.4683474C= | CA1342287249 | ITPR1 | c.3223C= (p.Pro1075=) c.3205C= (p.Pro1069=) c.3178C= (p.Pro1060=) c.996+29588C= (n.996+29588C=) n.751C= c.1060C= (p.Pro354=) c.158C= c.552C= c.3250C= (p.Pro1084=) | |
| 3 | g.4683474C>G | CA351650684 | ITPR1 | c.3223C>G (p.Pro1075Ala) c.3205C>G (p.Pro1069Ala) c.3178C>G (p.Pro1060Ala) c.996+29588C>G (n.996+29588C>G) n.751C>G c.1060C>G (p.Pro354Ala) c.158C>G c.552C>G c.3250C>G (p.Pro1084Ala) | |
| 3 | g.4683474C>T | CA351650685 | ITPR1 | c.3223C>T (p.Pro1075Ser) c.3205C>T (p.Pro1069Ser) c.3178C>T (p.Pro1060Ser) c.996+29588C>T (n.996+29588C>T) n.751C>T c.1060C>T (p.Pro354Ser) c.158C>T c.552C>T c.3250C>T (p.Pro1084Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.4683475C>A | CA351650686 | ITPR1 | c.3224C>A (p.Pro1075His) c.3206C>A (p.Pro1069His) c.3179C>A (p.Pro1060His) c.996+29589C>A (n.996+29589C>A) n.752C>A c.1061C>A (p.Pro354His) c.159C>A c.553C>A c.3251C>A (p.Pro1084His) | |
| 3 | g.4683475C= | CA1342287255 | ITPR1 | c.3224C= (p.Pro1075=) c.3206C= (p.Pro1069=) c.3179C= (p.Pro1060=) c.996+29589C= (n.996+29589C=) n.752C= c.1061C= (p.Pro354=) c.159C= c.553C= c.3251C= (p.Pro1084=) | |
| 3 | g.4683475C>G | CA351650687 | ITPR1 | c.3224C>G (p.Pro1075Arg) c.3206C>G (p.Pro1069Arg) c.3179C>G (p.Pro1060Arg) c.996+29589C>G (n.996+29589C>G) n.752C>G c.1061C>G (p.Pro354Arg) c.159C>G c.553C>G c.3251C>G (p.Pro1084Arg) | |
| 3 | g.4683475C>T | CA351650688 | ITPR1 | c.3224C>T (p.Pro1075Leu) c.3206C>T (p.Pro1069Leu) c.3179C>T (p.Pro1060Leu) c.996+29589C>T (n.996+29589C>T) n.752C>T c.1061C>T (p.Pro354Leu) c.159C>T c.553C>T c.3251C>T (p.Pro1084Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.4683476C>A | CA432321532 | ITPR1 | c.3225C>A (p.Pro1075=) c.3207C>A (p.Pro1069=) c.3180C>A (p.Pro1060=) c.996+29590C>A (n.996+29590C>A) n.753C>A c.1062C>A (p.Pro354=) c.160C>A c.554C>A c.3252C>A (p.Pro1084=) | |
| 3 | g.4683476C= | CA1342287258 | ITPR1 | c.3225C= (p.Pro1075=) c.3207C= (p.Pro1069=) c.3180C= (p.Pro1060=) c.996+29590C= (n.996+29590C=) n.753C= c.1062C= (p.Pro354=) c.160C= c.554C= c.3252C= (p.Pro1084=) | |
| 3 | g.4683476C>G | CA432321541 | ITPR1 | c.3225C>G (p.Pro1075=) c.3207C>G (p.Pro1069=) c.3180C>G (p.Pro1060=) c.996+29590C>G (n.996+29590C>G) n.753C>G c.1062C>G (p.Pro354=) c.160C>G c.554C>G c.3252C>G (p.Pro1084=) | dbSNP gnomAD v4 |
| 3 | g.4683476C>T | CA432321538 | ITPR1 | c.3225C>T (p.Pro1075=) c.3207C>T (p.Pro1069=) c.3180C>T (p.Pro1060=) c.996+29590C>T (n.996+29590C>T) n.753C>T c.1062C>T (p.Pro354=) c.160C>T c.554C>T c.3252C>T (p.Pro1084=) | gnomAD v3 gnomAD v4 |
| 3 | g.4683477C>A | CA351650690 | ITPR1 | c.3226C>A (p.Leu1076Met) c.3208C>A (p.Leu1070Met) c.3181C>A (p.Leu1061Met) c.996+29591C>A (n.996+29591C>A) n.754C>A c.1063C>A (p.Leu355Met) c.161C>A c.555C>A c.3253C>A (p.Leu1085Met) | |
| 3 | g.4683477C>G | CA351650689 | ITPR1 | c.3226C>G (p.Leu1076Val) c.3208C>G (p.Leu1070Val) c.3181C>G (p.Leu1061Val) c.996+29591C>G (n.996+29591C>G) n.754C>G c.1063C>G (p.Leu355Val) c.161C>G c.555C>G c.3253C>G (p.Leu1085Val) | |
| 3 | g.4683477C>T | CA432321547 | ITPR1 | c.3226C>T (p.Leu1076=) c.3208C>T (p.Leu1070=) c.3181C>T (p.Leu1061=) c.996+29591C>T (n.996+29591C>T) n.754C>T c.1063C>T (p.Leu355=) c.161C>T c.555C>T c.3253C>T (p.Leu1085=) | |
| 3 | g.4683478T>A | CA351650691 | ITPR1 | c.3227T>A (p.Leu1076Gln) c.3209T>A (p.Leu1070Gln) c.3182T>A (p.Leu1061Gln) c.996+29592T>A (n.996+29592T>A) n.755T>A c.1064T>A (p.Leu355Gln) c.162T>A c.556T>A c.3254T>A (p.Leu1085Gln) | |
| 3 | g.4683478T>C | CA351650692 | ITPR1 | c.3227T>C (p.Leu1076Pro) c.3209T>C (p.Leu1070Pro) c.3182T>C (p.Leu1061Pro) c.996+29592T>C (n.996+29592T>C) n.755T>C c.1064T>C (p.Leu355Pro) c.162T>C c.556T>C c.3254T>C (p.Leu1085Pro) | |
| 3 | g.4683478T>G | CA351650693 | ITPR1 | c.3227T>G (p.Leu1076Arg) c.3209T>G (p.Leu1070Arg) c.3182T>G (p.Leu1061Arg) c.996+29592T>G (n.996+29592T>G) n.755T>G c.1064T>G (p.Leu355Arg) c.162T>G c.556T>G c.3254T>G (p.Leu1085Arg) | |
| 3 | g.4683479G>A | CA432321554 | ITPR1 | c.3228G>A (p.Leu1076=) c.3210G>A (p.Leu1070=) c.3183G>A (p.Leu1061=) c.996+29593G>A (n.996+29593G>A) n.756G>A c.1065G>A (p.Leu355=) c.163G>A c.557G>A c.3255G>A (p.Leu1085=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.4683479G>C | CA432321555 | ITPR1 | c.3228G>C (p.Leu1076=) c.3210G>C (p.Leu1070=) c.3183G>C (p.Leu1061=) c.996+29593G>C (n.996+29593G>C) n.756G>C c.1065G>C (p.Leu355=) c.163G>C c.557G>C c.3255G>C (p.Leu1085=) | |
| 3 | g.4683479G= | CA1342287260 | ITPR1 | c.3228G= (p.Leu1076=) c.3210G= (p.Leu1070=) c.3183G= (p.Leu1061=) c.996+29593G= (n.996+29593G=) n.756G= c.1065G= (p.Leu355=) c.163G= c.557G= c.3255G= (p.Leu1085=) | |
| 3 | g.4683479G>T | CA432321557 | ITPR1 | c.3228G>T (p.Leu1076=) c.3210G>T (p.Leu1070=) c.3183G>T (p.Leu1061=) c.996+29593G>T (n.996+29593G>T) n.756G>T c.1065G>T (p.Leu355=) c.163G>T c.557G>T c.3255G>T (p.Leu1085=) | |
| 3 | g.4683480G>A | CA351650694 | ITPR1 | c.3229G>A (p.Val1077Met) c.3211G>A (p.Val1071Met) c.3184G>A (p.Val1062Met) c.996+29594G>A (n.996+29594G>A) n.757G>A c.1066G>A (p.Val356Met) c.164G>A c.558G>A c.3256G>A (p.Val1086Met) | |
| 3 | g.4683480G>C | CA351650695 | ITPR1 | c.3229G>C (p.Val1077Leu) c.3211G>C (p.Val1071Leu) c.3184G>C (p.Val1062Leu) c.996+29594G>C (n.996+29594G>C) n.757G>C c.1066G>C (p.Val356Leu) c.164G>C c.558G>C c.3256G>C (p.Val1086Leu) | |
| 3 | g.4683480G>T | CA351650696 | ITPR1 | c.3229G>T (p.Val1077Leu) c.3211G>T (p.Val1071Leu) c.3184G>T (p.Val1062Leu) c.996+29594G>T (n.996+29594G>T) n.757G>T c.1066G>T (p.Val356Leu) c.164G>T c.558G>T c.3256G>T (p.Val1086Leu) | |
| 3 | g.4683481T>A | CA351650697 | ITPR1 | c.3230T>A (p.Val1077Glu) c.3212T>A (p.Val1071Glu) c.3185T>A (p.Val1062Glu) c.996+29595T>A (n.996+29595T>A) n.758T>A c.1067T>A (p.Val356Glu) c.165T>A c.559T>A c.3257T>A (p.Val1086Glu) | |
| 3 | g.4683481T>C | CA351650699 | ITPR1 | c.3230T>C (p.Val1077Ala) c.3212T>C (p.Val1071Ala) c.3185T>C (p.Val1062Ala) c.996+29595T>C (n.996+29595T>C) n.758T>C c.1067T>C (p.Val356Ala) c.165T>C c.559T>C c.3257T>C (p.Val1086Ala) | |
| 3 | g.4683481T>G | CA351650698 | ITPR1 | c.3230T>G (p.Val1077Gly) c.3212T>G (p.Val1071Gly) c.3185T>G (p.Val1062Gly) c.996+29595T>G (n.996+29595T>G) n.758T>G c.1067T>G (p.Val356Gly) c.165T>G c.559T>G c.3257T>G (p.Val1086Gly) | |
| 3 | g.4683482G>A | CA432321566 | ITPR1 | c.3231G>A (p.Val1077=) c.3213G>A (p.Val1071=) c.3186G>A (p.Val1062=) c.996+29596G>A (n.996+29596G>A) n.759G>A c.1068G>A (p.Val356=) c.166G>A c.560G>A c.3258G>A (p.Val1086=) | COSMIC COSMIC COSMIC |
| 3 | g.4683482G>C | CA432321569 | ITPR1 | c.3231G>C (p.Val1077=) c.3213G>C (p.Val1071=) c.3186G>C (p.Val1062=) c.996+29596G>C (n.996+29596G>C) n.759G>C c.1068G>C (p.Val356=) c.166G>C c.560G>C c.3258G>C (p.Val1086=) | |
| 3 | g.4683482G= | CA1342287264 | ITPR1 | c.3231G= (p.Val1077=) c.3213G= (p.Val1071=) c.3186G= (p.Val1062=) c.996+29596G= (n.996+29596G=) n.759G= c.1068G= (p.Val356=) c.166G= c.560G= c.3258G= (p.Val1086=) | |
| 3 | g.4683482G>T | CA432321571 | ITPR1 | c.3231G>T (p.Val1077=) c.3213G>T (p.Val1071=) c.3186G>T (p.Val1062=) c.996+29596G>T (n.996+29596G>T) n.759G>T c.1068G>T (p.Val356=) c.166G>T c.560G>T c.3258G>T (p.Val1086=) | dbSNP |
| 3 | g.4683483T>A | CA351650700 | ITPR1 | c.3232T>A (p.Ser1078Thr) c.3214T>A (p.Ser1072Thr) c.3187T>A (p.Ser1063Thr) c.996+29597T>A (n.996+29597T>A) n.760T>A c.1069T>A (p.Ser357Thr) c.167T>A c.561T>A c.3259T>A (p.Ser1087Thr) | |
| 3 | g.4683483T>C | CA351650701 | ITPR1 | c.3232T>C (p.Ser1078Pro) c.3214T>C (p.Ser1072Pro) c.3187T>C (p.Ser1063Pro) c.996+29597T>C (n.996+29597T>C) n.760T>C c.1069T>C (p.Ser357Pro) c.167T>C c.561T>C c.3259T>C (p.Ser1087Pro) | |
| 3 | g.4683483T>G | CA351650702 | ITPR1 | c.3232T>G (p.Ser1078Ala) c.3214T>G (p.Ser1072Ala) c.3187T>G (p.Ser1063Ala) c.996+29597T>G (n.996+29597T>G) n.760T>G c.1069T>G (p.Ser357Ala) c.167T>G c.561T>G c.3259T>G (p.Ser1087Ala) | |
| 3 | g.4683484C>A | CA351650703 | ITPR1 | c.3233C>A (p.Ser1078Ter) c.3215C>A (p.Ser1072Ter) c.3188C>A (p.Ser1063Ter) c.996+29598C>A (n.996+29598C>A) n.761C>A c.1070C>A (p.Ser357Ter) c.168C>A c.562C>A c.3260C>A (p.Ser1087Ter) | |
| 3 | g.4683484C>G | CA351650704 | ITPR1 | c.3233C>G (p.Ser1078Ter) c.3215C>G (p.Ser1072Ter) c.3188C>G (p.Ser1063Ter) c.996+29598C>G (n.996+29598C>G) n.761C>G c.1070C>G (p.Ser357Ter) c.168C>G c.562C>G c.3260C>G (p.Ser1087Ter) | |
| 3 | g.4683484C>T | CA351650705 | ITPR1 | c.3233C>T (p.Ser1078Leu) c.3215C>T (p.Ser1072Leu) c.3188C>T (p.Ser1063Leu) c.996+29598C>T (n.996+29598C>T) n.761C>T c.1070C>T (p.Ser357Leu) c.168C>T c.562C>T c.3260C>T (p.Ser1087Leu) | |
| 3 | g.4683485A= | CA1342287268 | ITPR1 | c.3234A= (p.Ser1078=) c.3216A= (p.Ser1072=) c.3189A= (p.Ser1063=) c.996+29599A= (n.996+29599A=) n.762A= c.1071A= (p.Ser357=) c.169A= c.563A= c.3261A= (p.Ser1087=) | |
| 3 | g.4683485A>C | CA432321579 | ITPR1 | c.3234A>C (p.Ser1078=) c.3216A>C (p.Ser1072=) c.3189A>C (p.Ser1063=) c.996+29599A>C (n.996+29599A>C) n.762A>C c.1071A>C (p.Ser357=) c.169A>C c.563A>C c.3261A>C (p.Ser1087=) | ClinVar dbSNP |
| 3 | g.4683485A>G | CA432321582 | ITPR1 | c.3234A>G (p.Ser1078=) c.3216A>G (p.Ser1072=) c.3189A>G (p.Ser1063=) c.996+29599A>G (n.996+29599A>G) n.762A>G c.1071A>G (p.Ser357=) c.169A>G c.563A>G c.3261A>G (p.Ser1087=) | |
| 3 | g.4683485A>T | CA432321583 | ITPR1 | c.3234A>T (p.Ser1078=) c.3216A>T (p.Ser1072=) c.3189A>T (p.Ser1063=) c.996+29599A>T (n.996+29599A>T) n.762A>T c.1071A>T (p.Ser357=) c.169A>T c.563A>T c.3261A>T (p.Ser1087=) |