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 |
|---|---|---|---|---|---|
| 5 | g.139379813C>A | CA361140002 | SLC23A1 | c.790G>T (p.Val264Leu) c.802G>T (p.Val268Leu) c.164+143G>T n.401G>T c.910G>T (p.Val304Leu) c.898G>T (p.Val300Leu) c.691G>T (p.Val231Leu) c.595G>T (p.Val199Leu) c.475G>T (p.Val159Leu) c.85G>T (p.Val29Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.139379813C= | CA1586303790 | SLC23A1 | c.790G= (p.Val264=) c.802G= (p.Val268=) c.164+143G= n.401G= c.910G= (p.Val304=) c.898G= (p.Val300=) c.691G= (p.Val231=) c.595G= (p.Val199=) c.475G= (p.Val159=) c.85G= (p.Val29=) | |
| 5 | g.139379813C>G | CA361140004 | SLC23A1 | c.790G>C (p.Val264Leu) c.802G>C (p.Val268Leu) c.164+143G>C n.401G>C c.910G>C (p.Val304Leu) c.898G>C (p.Val300Leu) c.691G>C (p.Val231Leu) c.595G>C (p.Val199Leu) c.475G>C (p.Val159Leu) c.85G>C (p.Val29Leu) | dbSNP |
| 5 | g.139379813C>T | CA3434046 | SLC23A1 | c.790G>A (p.Val264Met) c.802G>A (p.Val268Met) c.164+143G>A n.401G>A c.910G>A (p.Val304Met) c.898G>A (p.Val300Met) c.691G>A (p.Val231Met) c.595G>A (p.Val199Met) c.475G>A (p.Val159Met) c.85G>A (p.Val29Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.139379814G>A | CA3434047 | SLC23A1 | c.789C>T (p.Thr263=) c.801C>T (p.Thr267=) c.164+142C>T n.400C>T c.909C>T (p.Thr303=) c.897C>T (p.Thr299=) c.690C>T (p.Thr230=) c.594C>T (p.Thr198=) c.474C>T (p.Thr158=) c.84C>T (p.Thr28=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.139379814G>C | CA446794046 | SLC23A1 | c.789C>G (p.Thr263=) c.801C>G (p.Thr267=) c.164+142C>G n.400C>G c.909C>G (p.Thr303=) c.897C>G (p.Thr299=) c.690C>G (p.Thr230=) c.594C>G (p.Thr198=) c.474C>G (p.Thr158=) c.84C>G (p.Thr28=) | |
| 5 | g.139379814G= | CA1586303794 | SLC23A1 | c.789C= (p.Thr263=) c.801C= (p.Thr267=) c.164+142C= n.400C= c.909C= (p.Thr303=) c.897C= (p.Thr299=) c.690C= (p.Thr230=) c.594C= (p.Thr198=) c.474C= (p.Thr158=) c.84C= (p.Thr28=) | |
| 5 | g.139379814G>T | CA446794045 | SLC23A1 | c.789C>A (p.Thr263=) c.801C>A (p.Thr267=) c.164+142C>A n.400C>A c.909C>A (p.Thr303=) c.897C>A (p.Thr299=) c.690C>A (p.Thr230=) c.594C>A (p.Thr198=) c.474C>A (p.Thr158=) c.84C>A (p.Thr28=) | |
| 5 | g.139379815G>A | CA361140010 | SLC23A1 | c.788C>T (p.Thr263Ile) c.800C>T (p.Thr267Ile) c.164+141C>T n.399C>T c.908C>T (p.Thr303Ile) c.896C>T (p.Thr299Ile) c.689C>T (p.Thr230Ile) c.593C>T (p.Thr198Ile) c.473C>T (p.Thr158Ile) c.83C>T (p.Thr28Ile) | gnomAD v4 |
| 5 | g.139379815G>C | CA361140013 | SLC23A1 | c.788C>G (p.Thr263Ser) c.800C>G (p.Thr267Ser) c.164+141C>G n.399C>G c.908C>G (p.Thr303Ser) c.896C>G (p.Thr299Ser) c.689C>G (p.Thr230Ser) c.593C>G (p.Thr198Ser) c.473C>G (p.Thr158Ser) c.83C>G (p.Thr28Ser) | |
| 5 | g.139379815G>T | CA361140015 | SLC23A1 | c.788C>A (p.Thr263Asn) c.800C>A (p.Thr267Asn) c.164+141C>A n.399C>A c.908C>A (p.Thr303Asn) c.896C>A (p.Thr299Asn) c.689C>A (p.Thr230Asn) c.593C>A (p.Thr198Asn) c.473C>A (p.Thr158Asn) c.83C>A (p.Thr28Asn) | |
| 5 | g.139379816T>A | CA361140027 | SLC23A1 | c.787A>T (p.Thr263Ser) c.799A>T (p.Thr267Ser) c.164+140A>T n.398A>T c.907A>T (p.Thr303Ser) c.895A>T (p.Thr299Ser) c.688A>T (p.Thr230Ser) c.592A>T (p.Thr198Ser) c.472A>T (p.Thr158Ser) c.82A>T (p.Thr28Ser) | |
| 5 | g.139379816T>C | CA361140029 | SLC23A1 | c.787A>G (p.Thr263Ala) c.799A>G (p.Thr267Ala) c.164+140A>G n.398A>G c.907A>G (p.Thr303Ala) c.895A>G (p.Thr299Ala) c.688A>G (p.Thr230Ala) c.592A>G (p.Thr198Ala) c.472A>G (p.Thr158Ala) c.82A>G (p.Thr28Ala) | dbSNP |
| 5 | g.139379816T>G | CA361140018 | SLC23A1 | c.787A>C (p.Thr263Pro) c.799A>C (p.Thr267Pro) c.164+140A>C n.398A>C c.907A>C (p.Thr303Pro) c.895A>C (p.Thr299Pro) c.688A>C (p.Thr230Pro) c.592A>C (p.Thr198Pro) c.472A>C (p.Thr158Pro) c.82A>C (p.Thr28Pro) | |
| 5 | g.139379817C>A | CA361140033 | SLC23A1 | c.786G>T (p.Met262Ile) c.798G>T (p.Met266Ile) c.164+139G>T n.397G>T c.906G>T (p.Met302Ile) c.894G>T (p.Met298Ile) c.687G>T (p.Met229Ile) c.591G>T (p.Met197Ile) c.471G>T (p.Met157Ile) c.81G>T (p.Met27Ile) | |
| 5 | g.139379817C= | CA1586303796 | SLC23A1 | c.786G= (p.Met262=) c.798G= (p.Met266=) c.164+139G= n.397G= c.906G= (p.Met302=) c.894G= (p.Met298=) c.687G= (p.Met229=) c.591G= (p.Met197=) c.471G= (p.Met157=) c.81G= (p.Met27=) | |
| 5 | g.139379817C>G | CA361140035 | SLC23A1 | c.786G>C (p.Met262Ile) c.798G>C (p.Met266Ile) c.164+139G>C n.397G>C c.906G>C (p.Met302Ile) c.894G>C (p.Met298Ile) c.687G>C (p.Met229Ile) c.591G>C (p.Met197Ile) c.471G>C (p.Met157Ile) c.81G>C (p.Met27Ile) | |
| 5 | g.139379817C>T | CA128242528 | SLC23A1 | c.786G>A (p.Met262Ile) c.798G>A (p.Met266Ile) c.164+139G>A n.397G>A c.906G>A (p.Met302Ile) c.894G>A (p.Met298Ile) c.687G>A (p.Met229Ile) c.591G>A (p.Met197Ile) c.471G>A (p.Met157Ile) c.81G>A (p.Met27Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.139379818A= | CA1586303800 | SLC23A1 | c.785T= (p.Met262=) c.797T= (p.Met266=) c.164+138T= n.396T= c.905T= (p.Met302=) c.893T= (p.Met298=) c.686T= (p.Met229=) c.590T= (p.Met197=) c.470T= (p.Met157=) c.80T= (p.Met27=) | |
| 5 | g.139379818A>C | CA361140040 | SLC23A1 | c.785T>G (p.Met262Arg) c.797T>G (p.Met266Arg) c.164+138T>G n.396T>G c.905T>G (p.Met302Arg) c.893T>G (p.Met298Arg) c.686T>G (p.Met229Arg) c.590T>G (p.Met197Arg) c.470T>G (p.Met157Arg) c.80T>G (p.Met27Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.139379818A>G | CA361140043 | SLC23A1 | c.785T>C (p.Met262Thr) c.797T>C (p.Met266Thr) c.164+138T>C n.396T>C c.905T>C (p.Met302Thr) c.893T>C (p.Met298Thr) c.686T>C (p.Met229Thr) c.590T>C (p.Met197Thr) c.470T>C (p.Met157Thr) c.80T>C (p.Met27Thr) | |
| 5 | g.139379818A>T | CA361140046 | SLC23A1 | c.785T>A (p.Met262Lys) c.797T>A (p.Met266Lys) c.164+138T>A n.396T>A c.905T>A (p.Met302Lys) c.893T>A (p.Met298Lys) c.686T>A (p.Met229Lys) c.590T>A (p.Met197Lys) c.470T>A (p.Met157Lys) c.80T>A (p.Met27Lys) | |
| 5 | g.139379819T>A | CA361140049 | SLC23A1 | c.784A>T (p.Met262Leu) c.796A>T (p.Met266Leu) c.164+137A>T n.395A>T c.904A>T (p.Met302Leu) c.892A>T (p.Met298Leu) c.685A>T (p.Met229Leu) c.589A>T (p.Met197Leu) c.469A>T (p.Met157Leu) c.79A>T (p.Met27Leu) | |
| 5 | g.139379819T>C | CA361140051 | SLC23A1 | c.784A>G (p.Met262Val) c.796A>G (p.Met266Val) c.164+137A>G n.395A>G c.904A>G (p.Met302Val) c.892A>G (p.Met298Val) c.685A>G (p.Met229Val) c.589A>G (p.Met197Val) c.469A>G (p.Met157Val) c.79A>G (p.Met27Val) | |
| 5 | g.139379819T>G | CA361140054 | SLC23A1 | c.784A>C (p.Met262Leu) c.796A>C (p.Met266Leu) c.164+137A>C n.395A>C c.904A>C (p.Met302Leu) c.892A>C (p.Met298Leu) c.685A>C (p.Met229Leu) c.589A>C (p.Met197Leu) c.469A>C (p.Met157Leu) c.79A>C (p.Met27Leu) | |
| 5 | g.139379820G>A | CA446794060 | SLC23A1 | c.783C>T (p.Ile261=) c.795C>T (p.Ile265=) c.164+136C>T n.394C>T c.903C>T (p.Ile301=) c.891C>T (p.Ile297=) c.684C>T (p.Ile228=) c.588C>T (p.Ile196=) c.468C>T (p.Ile156=) c.78C>T (p.Ile26=) | dbSNP gnomAD v2 |
| 5 | g.139379820G>C | CA361140056 | SLC23A1 | c.783C>G (p.Ile261Met) c.795C>G (p.Ile265Met) c.164+136C>G n.394C>G c.903C>G (p.Ile301Met) c.891C>G (p.Ile297Met) c.684C>G (p.Ile228Met) c.588C>G (p.Ile196Met) c.468C>G (p.Ile156Met) c.78C>G (p.Ile26Met) | COSMIC |
| 5 | g.139379820G= | CA1586303803 | SLC23A1 | c.783C= (p.Ile261=) c.795C= (p.Ile265=) c.164+136C= n.394C= c.903C= (p.Ile301=) c.891C= (p.Ile297=) c.684C= (p.Ile228=) c.588C= (p.Ile196=) c.468C= (p.Ile156=) c.78C= (p.Ile26=) | |
| 5 | g.139379820G>T | CA446794061 | SLC23A1 | c.783C>A (p.Ile261=) c.795C>A (p.Ile265=) c.164+136C>A n.394C>A c.903C>A (p.Ile301=) c.891C>A (p.Ile297=) c.684C>A (p.Ile228=) c.588C>A (p.Ile196=) c.468C>A (p.Ile156=) c.78C>A (p.Ile26=) | |
| 5 | g.139379821A>C | CA361140058 | SLC23A1 | c.782T>G (p.Ile261Ser) c.794T>G (p.Ile265Ser) c.164+135T>G n.393T>G c.902T>G (p.Ile301Ser) c.890T>G (p.Ile297Ser) c.683T>G (p.Ile228Ser) c.587T>G (p.Ile196Ser) c.467T>G (p.Ile156Ser) c.77T>G (p.Ile26Ser) | |
| 5 | g.139379821A>G | CA361140060 | SLC23A1 | c.782T>C (p.Ile261Thr) c.794T>C (p.Ile265Thr) c.164+135T>C n.393T>C c.902T>C (p.Ile301Thr) c.890T>C (p.Ile297Thr) c.683T>C (p.Ile228Thr) c.587T>C (p.Ile196Thr) c.467T>C (p.Ile156Thr) c.77T>C (p.Ile26Thr) | |
| 5 | g.139379821A>T | CA361140062 | SLC23A1 | c.782T>A (p.Ile261Asn) c.794T>A (p.Ile265Asn) c.164+135T>A n.393T>A c.902T>A (p.Ile301Asn) c.890T>A (p.Ile297Asn) c.683T>A (p.Ile228Asn) c.587T>A (p.Ile196Asn) c.467T>A (p.Ile156Asn) c.77T>A (p.Ile26Asn) | |
| 5 | g.139379822T>A | CA361140066 | SLC23A1 | c.781A>T (p.Ile261Phe) c.793A>T (p.Ile265Phe) c.164+134A>T n.392A>T c.901A>T (p.Ile301Phe) c.889A>T (p.Ile297Phe) c.682A>T (p.Ile228Phe) c.586A>T (p.Ile196Phe) c.466A>T (p.Ile156Phe) c.76A>T (p.Ile26Phe) | |
| 5 | g.139379822T>C | CA361140071 | SLC23A1 | c.781A>G (p.Ile261Val) c.793A>G (p.Ile265Val) c.164+134A>G n.392A>G c.901A>G (p.Ile301Val) c.889A>G (p.Ile297Val) c.682A>G (p.Ile228Val) c.586A>G (p.Ile196Val) c.466A>G (p.Ile156Val) c.76A>G (p.Ile26Val) | |
| 5 | g.139379822T>G | CA361140068 | SLC23A1 | c.781A>C (p.Ile261Leu) c.793A>C (p.Ile265Leu) c.164+134A>C n.392A>C c.901A>C (p.Ile301Leu) c.889A>C (p.Ile297Leu) c.682A>C (p.Ile228Leu) c.586A>C (p.Ile196Leu) c.466A>C (p.Ile156Leu) c.76A>C (p.Ile26Leu) | |
| 5 | g.139379823G>A | CA446794066 | SLC23A1 | c.780C>T (p.Ala260=) c.792C>T (p.Ala264=) c.164+133C>T n.391C>T c.900C>T (p.Ala300=) c.888C>T (p.Ala296=) c.681C>T (p.Ala227=) c.585C>T (p.Ala195=) c.465C>T (p.Ala155=) c.75C>T (p.Ala25=) | gnomAD v4 |
| 5 | g.139379823G>C | CA446794068 | SLC23A1 | c.780C>G (p.Ala260=) c.792C>G (p.Ala264=) c.164+133C>G n.391C>G c.900C>G (p.Ala300=) c.888C>G (p.Ala296=) c.681C>G (p.Ala227=) c.585C>G (p.Ala195=) c.465C>G (p.Ala155=) c.75C>G (p.Ala25=) | |
| 5 | g.139379823G>T | CA446794069 | SLC23A1 | c.780C>A (p.Ala260=) c.792C>A (p.Ala264=) c.164+133C>A n.391C>A c.900C>A (p.Ala300=) c.888C>A (p.Ala296=) c.681C>A (p.Ala227=) c.585C>A (p.Ala195=) c.465C>A (p.Ala155=) c.75C>A (p.Ala25=) | |
| 5 | g.139379823_139379827delinsGGCCA | CA1586303805 | SLC23A1 | c.776_780delinsTGGCC (p.Leu259=) c.788_792delinsTGGCC (p.Leu263=) c.164+129_164+133delinsTGGCC n.387_391delinsTGGCC c.896_900delinsTGGCC (p.Leu299=) c.884_888delinsTGGCC (p.Leu295=) c.677_681delinsTGGCC (p.Leu226=) c.581_585delinsTGGCC (p.Leu194=) c.461_465delinsTGGCC (p.Leu154=) c.71_75delinsTGGCC (p.Leu24=) | |
| 5 | g.139379824G>A | CA361140074 | SLC23A1 | c.779C>T (p.Ala260Val) c.791C>T (p.Ala264Val) c.164+132C>T n.390C>T c.899C>T (p.Ala300Val) c.887C>T (p.Ala296Val) c.680C>T (p.Ala227Val) c.584C>T (p.Ala195Val) c.464C>T (p.Ala155Val) c.74C>T (p.Ala25Val) | |
| 5 | g.139379824G>C | CA361140075 | SLC23A1 | c.779C>G (p.Ala260Gly) c.791C>G (p.Ala264Gly) c.164+132C>G n.390C>G c.899C>G (p.Ala300Gly) c.887C>G (p.Ala296Gly) c.680C>G (p.Ala227Gly) c.584C>G (p.Ala195Gly) c.464C>G (p.Ala155Gly) c.74C>G (p.Ala25Gly) | |
| 5 | g.139379824G= | CA1586303809 | SLC23A1 | c.779C= (p.Ala260=) c.791C= (p.Ala264=) c.164+132C= n.390C= c.899C= (p.Ala300=) c.887C= (p.Ala296=) c.680C= (p.Ala227=) c.584C= (p.Ala195=) c.464C= (p.Ala155=) c.74C= (p.Ala25=) | |
| 5 | g.139379824G>T | CA361140077 | SLC23A1 | c.779C>A (p.Ala260Asp) c.791C>A (p.Ala264Asp) c.164+132C>A n.390C>A c.899C>A (p.Ala300Asp) c.887C>A (p.Ala296Asp) c.680C>A (p.Ala227Asp) c.584C>A (p.Ala195Asp) c.464C>A (p.Ala155Asp) c.74C>A (p.Ala25Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.139379826_139379829del | CA917592882 | SLC23A1 | c.776_779del (p.Leu259ProfsTer3) c.788_791del (p.Leu263ProfsTer3) c.164+129_164+132del n.387_390del c.896_899del (p.Leu299ProfsTer3) c.884_887del (p.Leu295ProfsTer3) c.677_680del (p.Leu226ProfsTer3) c.581_584del (p.Leu194ProfsTer3) c.461_464del (p.Leu154ProfsTer3) c.71_74del (p.Leu24ProfsTer3) | dbSNP |
| 5 | g.139379825C>A | CA361140080 | SLC23A1 | c.778G>T (p.Ala260Ser) c.790G>T (p.Ala264Ser) c.164+131G>T n.389G>T c.898G>T (p.Ala300Ser) c.886G>T (p.Ala296Ser) c.679G>T (p.Ala227Ser) c.583G>T (p.Ala195Ser) c.463G>T (p.Ala155Ser) c.73G>T (p.Ala25Ser) | |
| 5 | g.139379825C>G | CA361140083 | SLC23A1 | c.778G>C (p.Ala260Pro) c.790G>C (p.Ala264Pro) c.164+131G>C n.389G>C c.898G>C (p.Ala300Pro) c.886G>C (p.Ala296Pro) c.679G>C (p.Ala227Pro) c.583G>C (p.Ala195Pro) c.463G>C (p.Ala155Pro) c.73G>C (p.Ala25Pro) | |
| 5 | g.139379825C>T | CA361140085 | SLC23A1 | c.778G>A (p.Ala260Thr) c.790G>A (p.Ala264Thr) c.164+131G>A n.389G>A c.898G>A (p.Ala300Thr) c.886G>A (p.Ala296Thr) c.679G>A (p.Ala227Thr) c.583G>A (p.Ala195Thr) c.463G>A (p.Ala155Thr) c.73G>A (p.Ala25Thr) | |
| 5 | g.139379826C>A | CA446794075 | SLC23A1 | c.777G>T (p.Leu259=) c.789G>T (p.Leu263=) c.164+130G>T n.388G>T c.897G>T (p.Leu299=) c.885G>T (p.Leu295=) c.678G>T (p.Leu226=) c.582G>T (p.Leu194=) c.462G>T (p.Leu154=) c.72G>T (p.Leu24=) | |
| 5 | g.139379826C>G | CA446794076 | SLC23A1 | c.777G>C (p.Leu259=) c.789G>C (p.Leu263=) c.164+130G>C n.388G>C c.897G>C (p.Leu299=) c.885G>C (p.Leu295=) c.678G>C (p.Leu226=) c.582G>C (p.Leu194=) c.462G>C (p.Leu154=) c.72G>C (p.Leu24=) | |
| 5 | g.139379826C>T | CA446794078 | SLC23A1 | c.777G>A (p.Leu259=) c.789G>A (p.Leu263=) c.164+130G>A n.388G>A c.897G>A (p.Leu299=) c.885G>A (p.Leu295=) c.678G>A (p.Leu226=) c.582G>A (p.Leu194=) c.462G>A (p.Leu154=) c.72G>A (p.Leu24=) |