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 |
|---|---|---|---|---|---|
| 11 | g.67490161G>A | CA381551029 | AIP | c.569G>A c.403G>A (p.Ala135Thr) n.1104G>A c.468+706G>A (n.468+706G>A) c.223G>A (p.Ala75Thr) c.592G>A (p.Ala198Thr) c.415G>A (p.Ala139Thr) c.412G>A (p.Ala138Thr) c.244G>A (p.Ala82Thr) | gnomAD v4 |
| 11 | g.67490161G>C | CA381551032 | AIP | c.569G>C c.403G>C (p.Ala135Pro) n.1104G>C c.468+706G>C (n.468+706G>C) c.223G>C (p.Ala75Pro) c.592G>C (p.Ala198Pro) c.415G>C (p.Ala139Pro) c.412G>C (p.Ala138Pro) c.244G>C (p.Ala82Pro) | |
| 11 | g.67490161G>T | CA381551035 | AIP | c.569G>T c.403G>T (p.Ala135Ser) n.1104G>T c.468+706G>T (n.468+706G>T) c.223G>T (p.Ala75Ser) c.592G>T (p.Ala198Ser) c.415G>T (p.Ala139Ser) c.412G>T (p.Ala138Ser) c.244G>T (p.Ala82Ser) | |
| 11 | g.67490162C>A | CA381551040 | AIP | c.570C>A c.404C>A (p.Ala135Asp) n.1105C>A c.468+707C>A (n.468+707C>A) c.224C>A (p.Ala75Asp) c.593C>A (p.Ala198Asp) c.416C>A (p.Ala139Asp) c.413C>A (p.Ala138Asp) c.245C>A (p.Ala82Asp) | COSMIC |
| 11 | g.67490162C>G | CA381551042 | AIP | c.570C>G c.404C>G (p.Ala135Gly) n.1105C>G c.468+707C>G (n.468+707C>G) c.224C>G (p.Ala75Gly) c.593C>G (p.Ala198Gly) c.416C>G (p.Ala139Gly) c.413C>G (p.Ala138Gly) c.245C>G (p.Ala82Gly) | |
| 11 | g.67490162C>T | CA381551046 | AIP | c.570C>T c.404C>T (p.Ala135Val) n.1105C>T c.468+707C>T (n.468+707C>T) c.224C>T (p.Ala75Val) c.593C>T (p.Ala198Val) c.416C>T (p.Ala139Val) c.413C>T (p.Ala138Val) c.245C>T (p.Ala82Val) | |
| 11 | g.67490163T>A | CA475509240 | AIP | c.571T>A c.405T>A (p.Ala135=) n.1106T>A c.468+708T>A (n.468+708T>A) c.225T>A (p.Ala75=) c.594T>A (p.Ala198=) c.417T>A (p.Ala139=) c.414T>A (p.Ala138=) c.246T>A (p.Ala82=) | |
| 11 | g.67490163T>C | CA475509242 | AIP | c.571T>C c.405T>C (p.Ala135=) n.1106T>C c.468+708T>C (n.468+708T>C) c.225T>C (p.Ala75=) c.594T>C (p.Ala198=) c.417T>C (p.Ala139=) c.414T>C (p.Ala138=) c.246T>C (p.Ala82=) | |
| 11 | g.67490163T>G | CA475509243 | AIP | c.571T>G c.405T>G (p.Ala135=) n.1106T>G c.468+708T>G (n.468+708T>G) c.225T>G (p.Ala75=) c.594T>G (p.Ala198=) c.417T>G (p.Ala139=) c.414T>G (p.Ala138=) c.246T>G (p.Ala82=) | ClinVar |
| 11 | g.67490164G>A | CA381551053 | AIP | c.572G>A c.406G>A (p.Ala136Thr) n.1107G>A c.468+709G>A (n.468+709G>A) c.226G>A (p.Ala76Thr) c.595G>A (p.Ala199Thr) c.418G>A (p.Ala140Thr) c.415G>A (p.Ala139Thr) c.247G>A (p.Ala83Thr) | |
| 11 | g.67490164G>C | CA381551054 | AIP | c.572G>C c.406G>C (p.Ala136Pro) n.1107G>C c.468+709G>C (n.468+709G>C) c.226G>C (p.Ala76Pro) c.595G>C (p.Ala199Pro) c.418G>C (p.Ala140Pro) c.415G>C (p.Ala139Pro) c.247G>C (p.Ala83Pro) | ClinVar dbSNP |
| 11 | g.67490164G= | CA1980172327 | AIP | c.572G= c.406G= (p.Ala136=) n.1107G= c.468+709G= (n.468+709G=) c.226G= (p.Ala76=) c.595G= (p.Ala199=) c.418G= (p.Ala140=) c.415G= (p.Ala139=) c.247G= (p.Ala83=) | |
| 11 | g.67490164G>T | CA381551057 | AIP | c.572G>T c.406G>T (p.Ala136Ser) n.1107G>T c.468+709G>T (n.468+709G>T) c.226G>T (p.Ala76Ser) c.595G>T (p.Ala199Ser) c.418G>T (p.Ala140Ser) c.415G>T (p.Ala139Ser) c.247G>T (p.Ala83Ser) | |
| 11 | g.67490165C>A | CA381551063 | AIP | c.573C>A c.407C>A (p.Ala136Asp) n.1108C>A c.468+710C>A (n.468+710C>A) c.227C>A (p.Ala76Asp) c.596C>A (p.Ala199Asp) c.419C>A (p.Ala140Asp) c.416C>A (p.Ala139Asp) c.248C>A (p.Ala83Asp) | |
| 11 | g.67490165C>G | CA381551066 | AIP | c.573C>G c.407C>G (p.Ala136Gly) n.1108C>G c.468+710C>G (n.468+710C>G) c.227C>G (p.Ala76Gly) c.596C>G (p.Ala199Gly) c.419C>G (p.Ala140Gly) c.416C>G (p.Ala139Gly) c.248C>G (p.Ala83Gly) | |
| 11 | g.67490165C>T | CA381551068 | AIP | c.573C>T c.407C>T (p.Ala136Val) n.1108C>T c.468+710C>T (n.468+710C>T) c.227C>T (p.Ala76Val) c.596C>T (p.Ala199Val) c.419C>T (p.Ala140Val) c.416C>T (p.Ala139Val) c.248C>T (p.Ala83Val) | |
| 11 | g.67490166T>A | CA475509245 | AIP | c.574T>A c.408T>A (p.Ala136=) n.1109T>A c.468+711T>A (n.468+711T>A) c.228T>A (p.Ala76=) c.597T>A (p.Ala199=) c.420T>A (p.Ala140=) c.417T>A (p.Ala139=) c.249T>A (p.Ala83=) | |
| 11 | g.67490166T>C | CA475509246 | AIP | c.574T>C c.408T>C (p.Ala136=) n.1109T>C c.468+711T>C (n.468+711T>C) c.228T>C (p.Ala76=) c.597T>C (p.Ala199=) c.420T>C (p.Ala140=) c.417T>C (p.Ala139=) c.249T>C (p.Ala83=) | |
| 11 | g.67490166T>G | CA475509244 | AIP | c.574T>G c.408T>G (p.Ala136=) n.1109T>G c.468+711T>G (n.468+711T>G) c.228T>G (p.Ala76=) c.597T>G (p.Ala199=) c.420T>G (p.Ala140=) c.417T>G (p.Ala139=) c.249T>G (p.Ala83=) | |
| 11 | g.67490167G>A | CA381551088 | AIP | c.575G>A c.409G>A (p.Ala137Thr) n.1110G>A c.468+712G>A (n.468+712G>A) c.229G>A (p.Ala77Thr) c.598G>A (p.Ala200Thr) c.421G>A (p.Ala141Thr) c.418G>A (p.Ala140Thr) c.250G>A (p.Ala84Thr) | gnomAD v4 |
| 11 | g.67490167G>C | CA381551090 | AIP | c.575G>C c.409G>C (p.Ala137Pro) n.1110G>C c.468+712G>C (n.468+712G>C) c.229G>C (p.Ala77Pro) c.598G>C (p.Ala200Pro) c.421G>C (p.Ala141Pro) c.418G>C (p.Ala140Pro) c.250G>C (p.Ala84Pro) | |
| 11 | g.67490167G>T | CA381551082 | AIP | c.575G>T c.409G>T (p.Ala137Ser) n.1110G>T c.468+712G>T (n.468+712G>T) c.229G>T (p.Ala77Ser) c.598G>T (p.Ala200Ser) c.421G>T (p.Ala141Ser) c.418G>T (p.Ala140Ser) c.250G>T (p.Ala84Ser) | |
| 11 | g.67490168C>A | CA381551093 | AIP | c.576C>A c.410C>A (p.Ala137Asp) n.1111C>A c.468+713C>A (n.468+713C>A) c.230C>A (p.Ala77Asp) c.599C>A (p.Ala200Asp) c.422C>A (p.Ala141Asp) c.419C>A (p.Ala140Asp) c.251C>A (p.Ala84Asp) | |
| 11 | g.67490168C= | CA1980172328 | AIP | c.576C= c.410C= (p.Ala137=) n.1111C= c.468+713C= (n.468+713C=) c.230C= (p.Ala77=) c.599C= (p.Ala200=) c.422C= (p.Ala141=) c.419C= (p.Ala140=) c.251C= (p.Ala84=) | |
| 11 | g.67490168C>G | CA381551099 | AIP | c.576C>G c.410C>G (p.Ala137Gly) n.1111C>G c.468+713C>G (n.468+713C>G) c.230C>G (p.Ala77Gly) c.599C>G (p.Ala200Gly) c.422C>G (p.Ala141Gly) c.419C>G (p.Ala140Gly) c.251C>G (p.Ala84Gly) | |
| 11 | g.67490168C>T | CA381551096 | AIP | c.576C>T c.410C>T (p.Ala137Val) n.1111C>T c.468+713C>T (n.468+713C>T) c.230C>T (p.Ala77Val) c.599C>T (p.Ala200Val) c.422C>T (p.Ala141Val) c.419C>T (p.Ala140Val) c.251C>T (p.Ala84Val) | dbSNP gnomAD v2 |
| 11 | g.67490169del | CA2499221230 | AIP | c.577del c.411del (p.Lys138SerfsTer14) n.1112del c.468+714del (n.468+714del) c.231del (p.Lys78SerfsTer14) c.600del (p.Lys201SerfsTer14) c.423del (p.Lys142SerfsTer14) c.420del (p.Lys141SerfsTer14) c.252del (p.Lys85SerfsTer14) | ClinVar dbSNP |
| 11 | g.67490169C>A | CA475509255 | AIP | c.577C>A c.411C>A (p.Ala137=) n.1112C>A c.468+714C>A (n.468+714C>A) c.231C>A (p.Ala77=) c.600C>A (p.Ala200=) c.423C>A (p.Ala141=) c.420C>A (p.Ala140=) c.252C>A (p.Ala84=) | |
| 11 | g.67490169C>G | CA475509254 | AIP | c.577C>G c.411C>G (p.Ala137=) n.1112C>G c.468+714C>G (n.468+714C>G) c.231C>G (p.Ala77=) c.600C>G (p.Ala200=) c.423C>G (p.Ala141=) c.420C>G (p.Ala140=) c.252C>G (p.Ala84=) | |
| 11 | g.67490169C>T | CA475509253 | AIP | c.577C>T c.411C>T (p.Ala137=) n.1112C>T c.468+714C>T (n.468+714C>T) c.231C>T (p.Ala77=) c.600C>T (p.Ala200=) c.423C>T (p.Ala141=) c.420C>T (p.Ala140=) c.252C>T (p.Ala84=) | gnomAD v4 |
| 11 | g.67490170A= | CA1980172329 | AIP | c.578A= c.412A= (p.Lys138=) n.1113A= c.468+715A= (n.468+715A=) c.232A= (p.Lys78=) c.601A= (p.Lys201=) c.424A= (p.Lys142=) c.421A= (p.Lys141=) c.253A= (p.Lys85=) | |
| 11 | g.67490170A>C | CA381551102 | AIP | c.578A>C c.412A>C (p.Lys138Gln) n.1113A>C c.468+715A>C (n.468+715A>C) c.232A>C (p.Lys78Gln) c.601A>C (p.Lys201Gln) c.424A>C (p.Lys142Gln) c.421A>C (p.Lys141Gln) c.253A>C (p.Lys85Gln) | ClinVar |
| 11 | g.67490170A>G | CA381551104 | AIP | c.578A>G c.412A>G (p.Lys138Glu) n.1113A>G c.468+715A>G (n.468+715A>G) c.232A>G (p.Lys78Glu) c.601A>G (p.Lys201Glu) c.424A>G (p.Lys142Glu) c.421A>G (p.Lys141Glu) c.253A>G (p.Lys85Glu) | |
| 11 | g.67490170A>T | CA344138 | AIP | c.578A>T c.412A>T (p.Lys138Ter) n.1113A>T c.468+715A>T (n.468+715A>T) c.232A>T (p.Lys78Ter) c.601A>T (p.Lys201Ter) c.424A>T (p.Lys142Ter) c.421A>T (p.Lys141Ter) c.253A>T (p.Lys85Ter) | ClinVar dbSNP |
| 11 | g.67490170_67490171insTTTTG | CA2614623311 | AIP | c.578_579insTTTTG c.412_413insTTTTG (p.Lys138IlefsTer16) n.1113_1114insTTTTG c.468+715_468+716insTTTTG (n.468+715_468+716insTTTTG) c.232_233insTTTTG (p.Lys78IlefsTer16) c.601_602insTTTTG (p.Lys201IlefsTer16) c.424_425insTTTTG (p.Lys142IlefsTer16) c.421_422insTTTTG (p.Lys141IlefsTer16) c.253_254insTTTTG (p.Lys85IlefsTer16) | gnomAD v4 |
| 11 | g.67490171A= | CA1980172330 | AIP | c.579A= c.413A= (p.Lys138=) n.1114A= c.468+716A= (n.468+716A=) c.233A= (p.Lys78=) c.602A= (p.Lys201=) c.425A= (p.Lys142=) c.422A= (p.Lys141=) c.254A= (p.Lys85=) | |
| 11 | g.67490171A>C | CA381551108 | AIP | c.579A>C c.413A>C (p.Lys138Thr) n.1114A>C c.468+716A>C (n.468+716A>C) c.233A>C (p.Lys78Thr) c.602A>C (p.Lys201Thr) c.425A>C (p.Lys142Thr) c.422A>C (p.Lys141Thr) c.254A>C (p.Lys85Thr) | |
| 11 | g.67490171A>G | CA381551112 | AIP | c.579A>G c.413A>G (p.Lys138Arg) n.1114A>G c.468+716A>G (n.468+716A>G) c.233A>G (p.Lys78Arg) c.602A>G (p.Lys201Arg) c.425A>G (p.Lys142Arg) c.422A>G (p.Lys141Arg) c.254A>G (p.Lys85Arg) | ClinVar dbSNP |
| 11 | g.67490171A>T | CA381551115 | AIP | c.579A>T c.413A>T (p.Lys138Met) n.1114A>T c.468+716A>T (n.468+716A>T) c.233A>T (p.Lys78Met) c.602A>T (p.Lys201Met) c.425A>T (p.Lys142Met) c.422A>T (p.Lys141Met) c.254A>T (p.Lys85Met) | |
| 11 | g.67490172G>A | CA475509261 | AIP | c.580G>A c.414G>A (p.Lys138=) n.1115G>A c.468+717G>A (n.468+717G>A) c.234G>A (p.Lys78=) c.603G>A (p.Lys201=) c.426G>A (p.Lys142=) c.423G>A (p.Lys141=) c.255G>A (p.Lys85=) | |
| 11 | g.67490172G>C | CA381551119 | AIP | c.580G>C c.414G>C (p.Lys138Asn) n.1115G>C c.468+717G>C (n.468+717G>C) c.234G>C (p.Lys78Asn) c.603G>C (p.Lys201Asn) c.426G>C (p.Lys142Asn) c.423G>C (p.Lys141Asn) c.255G>C (p.Lys85Asn) | |
| 11 | g.67490172G>T | CA381551121 | AIP | c.580G>T c.414G>T (p.Lys138Asn) n.1115G>T c.468+717G>T (n.468+717G>T) c.234G>T (p.Lys78Asn) c.603G>T (p.Lys201Asn) c.426G>T (p.Lys142Asn) c.423G>T (p.Lys141Asn) c.255G>T (p.Lys85Asn) | |
| 11 | g.67490173T>A | CA381551125 | AIP | c.581T>A c.415T>A (p.Tyr139Asn) n.1116T>A c.468+718T>A (n.468+718T>A) c.235T>A (p.Tyr79Asn) c.604T>A (p.Tyr202Asn) c.427T>A (p.Tyr143Asn) c.424T>A (p.Tyr142Asn) c.256T>A (p.Tyr86Asn) | |
| 11 | g.67490173T>C | CA381551127 | AIP | c.581T>C c.415T>C (p.Tyr139His) n.1116T>C c.468+718T>C (n.468+718T>C) c.235T>C (p.Tyr79His) c.604T>C (p.Tyr202His) c.427T>C (p.Tyr143His) c.424T>C (p.Tyr142His) c.256T>C (p.Tyr86His) | |
| 11 | g.67490173T>G | CA381551130 | AIP | c.581T>G c.415T>G (p.Tyr139Asp) n.1116T>G c.468+718T>G (n.468+718T>G) c.235T>G (p.Tyr79Asp) c.604T>G (p.Tyr202Asp) c.427T>G (p.Tyr143Asp) c.424T>G (p.Tyr142Asp) c.256T>G (p.Tyr86Asp) | |
| 11 | g.67490174A>C | CA381551133 | AIP | c.582A>C c.416A>C (p.Tyr139Ser) n.1117A>C c.468+719A>C (n.468+719A>C) c.236A>C (p.Tyr79Ser) c.605A>C (p.Tyr202Ser) c.428A>C (p.Tyr143Ser) c.425A>C (p.Tyr142Ser) c.257A>C (p.Tyr86Ser) | |
| 11 | g.67490174A>G | CA381551131 | AIP | c.582A>G c.416A>G (p.Tyr139Cys) n.1117A>G c.468+719A>G (n.468+719A>G) c.236A>G (p.Tyr79Cys) c.605A>G (p.Tyr202Cys) c.428A>G (p.Tyr143Cys) c.425A>G (p.Tyr142Cys) c.257A>G (p.Tyr86Cys) | gnomAD v4 |
| 11 | g.67490174A>T | CA381551132 | AIP | c.582A>T c.416A>T (p.Tyr139Phe) n.1117A>T c.468+719A>T (n.468+719A>T) c.236A>T (p.Tyr79Phe) c.605A>T (p.Tyr202Phe) c.428A>T (p.Tyr143Phe) c.425A>T (p.Tyr142Phe) c.257A>T (p.Tyr86Phe) | |
| 11 | g.67490174_67490178del | CA2614623321 | AIP | c.582_586del c.416_420del (p.Tyr139Ter) n.1117_1121del c.468+719_468+723del (n.468+719_468+723del) c.236_240del (p.Tyr79Ter) c.605_609del (p.Tyr202Ter) c.428_432del (p.Tyr143Ter) c.425_429del (p.Tyr142Ter) c.257_261del (p.Tyr86Ter) | gnomAD v4 |
| 11 | g.67490175C>A | CA381551135 | AIP | c.583C>A c.417C>A (p.Tyr139Ter) n.1118C>A c.468+720C>A (n.468+720C>A) c.237C>A (p.Tyr79Ter) c.606C>A (p.Tyr202Ter) c.429C>A (p.Tyr143Ter) c.426C>A (p.Tyr142Ter) c.258C>A (p.Tyr86Ter) |