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 |
|---|---|---|---|---|---|
| 1 | g.21576582A= | CA1141580649 | ALPL | c.1250A= (p.Asn417=) n.519A= c.325A= c.1019A= (p.Asn340=) c.1085A= (p.Asn362=) c.1094A= (p.Asn365=) | |
| 1 | g.21576582A>C | CA338881782 | ALPL | c.1250A>C (p.Asn417Thr) n.519A>C c.325A>C c.1019A>C (p.Asn340Thr) c.1085A>C (p.Asn362Thr) c.1094A>C (p.Asn365Thr) | |
| 1 | g.21576582A>G | CA199266 | ALPL | c.1250A>G (p.Asn417Ser) n.519A>G c.325A>G c.1019A>G (p.Asn340Ser) c.1085A>G (p.Asn362Ser) c.1094A>G (p.Asn365Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21576582A>T | CA338881783 | ALPL | c.1250A>T (p.Asn417Ile) n.519A>T c.325A>T c.1019A>T (p.Asn340Ile) c.1085A>T (p.Asn362Ile) c.1094A>T (p.Asn365Ile) | |
| 1 | g.21576583T>A | CA338881784 | ALPL | c.1251T>A (p.Asn417Lys) n.520T>A c.326T>A c.1020T>A (p.Asn340Lys) c.1086T>A (p.Asn362Lys) c.1095T>A (p.Asn365Lys) | |
| 1 | g.21576583T>C | CA416534032 | ALPL | c.1251T>C (p.Asn417=) n.520T>C c.326T>C c.1020T>C (p.Asn340=) c.1086T>C (p.Asn362=) c.1095T>C (p.Asn365=) | ClinVar dbSNP |
| 1 | g.21576583T>G | CA338881785 | ALPL | c.1251T>G (p.Asn417Lys) n.520T>G c.326T>G c.1020T>G (p.Asn340Lys) c.1086T>G (p.Asn362Lys) c.1095T>G (p.Asn365Lys) | |
| 1 | g.21576584G>A | CA338881786 | ALPL | c.1252G>A (p.Gly418Arg) n.521G>A c.327G>A c.1021G>A (p.Gly341Arg) c.1087G>A (p.Gly363Arg) c.1096G>A (p.Gly366Arg) | |
| 1 | g.21576584G>C | CA338881787 | ALPL | c.1252G>C (p.Gly418Arg) n.521G>C c.327G>C c.1021G>C (p.Gly341Arg) c.1087G>C (p.Gly363Arg) c.1096G>C (p.Gly366Arg) | |
| 1 | g.21576584G>T | CA338881788 | ALPL | c.1252G>T (p.Gly418Trp) n.521G>T c.327G>T c.1021G>T (p.Gly341Trp) c.1087G>T (p.Gly363Trp) c.1096G>T (p.Gly366Trp) | |
| 1 | g.21576585G>A | CA338881791 | ALPL | c.1253G>A (p.Gly418Glu) n.522G>A c.328G>A c.1022G>A (p.Gly341Glu) c.1088G>A (p.Gly363Glu) c.1097G>A (p.Gly366Glu) | |
| 1 | g.21576585G>C | CA338881790 | ALPL | c.1253G>C (p.Gly418Ala) n.522G>C c.328G>C c.1022G>C (p.Gly341Ala) c.1088G>C (p.Gly363Ala) c.1097G>C (p.Gly366Ala) | |
| 1 | g.21576585G>T | CA338881789 | ALPL | c.1253G>T (p.Gly418Val) n.522G>T c.328G>T c.1022G>T (p.Gly341Val) c.1088G>T (p.Gly363Val) c.1097G>T (p.Gly366Val) | |
| 1 | g.21576586G>A | CA416534033 | ALPL | c.1254G>A (p.Gly418=) n.523G>A c.329G>A c.1023G>A (p.Gly341=) c.1089G>A (p.Gly363=) c.1098G>A (p.Gly366=) | |
| 1 | g.21576586G>C | CA416534034 | ALPL | c.1254G>C (p.Gly418=) n.523G>C c.329G>C c.1023G>C (p.Gly341=) c.1089G>C (p.Gly363=) c.1098G>C (p.Gly366=) | dbSNP |
| 1 | g.21576586G= | CA1158019782 | ALPL | c.1254G= (p.Gly418=) n.523G= c.329G= c.1023G= (p.Gly341=) c.1089G= (p.Gly363=) c.1098G= (p.Gly366=) | |
| 1 | g.21576586G>T | CA416534035 | ALPL | c.1254G>T (p.Gly418=) n.523G>T c.329G>T c.1023G>T (p.Gly341=) c.1089G>T (p.Gly363=) c.1098G>T (p.Gly366=) | |
| 1 | g.21576587C>A | CA338881792 | ALPL | c.1255C>A (p.Pro419Thr) n.524C>A c.330C>A c.1024C>A (p.Pro342Thr) c.1090C>A (p.Pro364Thr) c.1099C>A (p.Pro367Thr) | |
| 1 | g.21576587C>G | CA338881793 | ALPL | c.1255C>G (p.Pro419Ala) n.524C>G c.330C>G c.1024C>G (p.Pro342Ala) c.1090C>G (p.Pro364Ala) c.1099C>G (p.Pro367Ala) | |
| 1 | g.21576587C>T | CA338881794 | ALPL | c.1255C>T (p.Pro419Ser) n.524C>T c.330C>T c.1024C>T (p.Pro342Ser) c.1090C>T (p.Pro364Ser) c.1099C>T (p.Pro367Ser) | |
| 1 | g.21576588del | CA2586966222 | ALPL | c.1256del (p.Pro419LeufsTer?) n.525del c.331del c.1025del (p.Pro342LeufsTer?) c.1091del (p.Pro364LeufsTer?) c.1100del (p.Pro367LeufsTer?) | |
| 1 | g.21576588C>A | CA338881795 | ALPL | c.1256C>A (p.Pro419His) n.525C>A c.331C>A c.1025C>A (p.Pro342His) c.1091C>A (p.Pro364His) c.1100C>A (p.Pro367His) | |
| 1 | g.21576588C>G | CA338881796 | ALPL | c.1256C>G (p.Pro419Arg) n.525C>G c.331C>G c.1025C>G (p.Pro342Arg) c.1091C>G (p.Pro364Arg) c.1100C>G (p.Pro367Arg) | |
| 1 | g.21576588C>T | CA338881797 | ALPL | c.1256C>T (p.Pro419Leu) n.525C>T c.331C>T c.1025C>T (p.Pro342Leu) c.1091C>T (p.Pro364Leu) c.1100C>T (p.Pro367Leu) | |
| 1 | g.21576589T>A | CA416534037 | ALPL | c.1257T>A (p.Pro419=) n.526T>A c.332T>A c.1026T>A (p.Pro342=) c.1092T>A (p.Pro364=) c.1101T>A (p.Pro367=) | |
| 1 | g.21576589T>C | CA416534038 | ALPL | c.1257T>C (p.Pro419=) n.526T>C c.332T>C c.1026T>C (p.Pro342=) c.1092T>C (p.Pro364=) c.1101T>C (p.Pro367=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.21576589T>G | CA416534036 | ALPL | c.1257T>G (p.Pro419=) n.526T>G c.332T>G c.1026T>G (p.Pro342=) c.1092T>G (p.Pro364=) c.1101T>G (p.Pro367=) | |
| 1 | g.21576589dup | CA2697552241 | ALPL | c.1257dup (p.Gly420TrpfsTer8) n.526dup c.332dup c.1026dup (p.Gly343TrpfsTer8) c.1092dup (p.Gly365TrpfsTer8) c.1101dup (p.Gly368TrpfsTer8) | ClinVar |
| 1 | g.21576590G>A | CA338881798 | ALPL | c.1258G>A (p.Gly420Ser) n.527G>A c.333G>A c.1027G>A (p.Gly343Ser) c.1093G>A (p.Gly365Ser) c.1102G>A (p.Gly368Ser) | ClinVar dbSNP |
| 1 | g.21576590G>C | CA338881799 | ALPL | c.1258G>C (p.Gly420Arg) n.527G>C c.333G>C c.1027G>C (p.Gly343Arg) c.1093G>C (p.Gly365Arg) c.1102G>C (p.Gly368Arg) | |
| 1 | g.21576590G= | CA1158019783 | ALPL | c.1258G= (p.Gly420=) n.527G= c.333G= c.1027G= (p.Gly343=) c.1093G= (p.Gly365=) c.1102G= (p.Gly368=) | |
| 1 | g.21576590G>T | CA338881800 | ALPL | c.1258G>T (p.Gly420Cys) n.527G>T c.333G>T c.1027G>T (p.Gly343Cys) c.1093G>T (p.Gly365Cys) c.1102G>T (p.Gly368Cys) | |
| 1 | g.21576591G>A | CA338881801 | ALPL | c.1259G>A (p.Gly420Asp) n.528G>A c.334G>A c.1028G>A (p.Gly343Asp) c.1094G>A (p.Gly365Asp) c.1103G>A (p.Gly368Asp) | ClinVar gnomAD v4 |
| 1 | g.21576591G>C | CA338881802 | ALPL | c.1259G>C (p.Gly420Ala) n.528G>C c.334G>C c.1028G>C (p.Gly343Ala) c.1094G>C (p.Gly365Ala) c.1103G>C (p.Gly368Ala) | ClinVar |
| 1 | g.21576591G>T | CA338881803 | ALPL | c.1259G>T (p.Gly420Val) n.528G>T c.334G>T c.1028G>T (p.Gly343Val) c.1094G>T (p.Gly365Val) c.1103G>T (p.Gly368Val) | |
| 1 | g.21576592C>A | CA416534041 | ALPL | c.1260C>A (p.Gly420=) n.529C>A c.335C>A c.1029C>A (p.Gly343=) c.1095C>A (p.Gly365=) c.1104C>A (p.Gly368=) | |
| 1 | g.21576592C>G | CA416534039 | ALPL | c.1260C>G (p.Gly420=) n.529C>G c.335C>G c.1029C>G (p.Gly343=) c.1095C>G (p.Gly365=) c.1104C>G (p.Gly368=) | |
| 1 | g.21576592C>T | CA416534040 | ALPL | c.1260C>T (p.Gly420=) n.529C>T c.335C>T c.1029C>T (p.Gly343=) c.1095C>T (p.Gly365=) c.1104C>T (p.Gly368=) | |
| 1 | g.21576593T>A | CA338881806 | ALPL | c.1261T>A (p.Tyr421Asn) n.530T>A c.336T>A c.1030T>A (p.Tyr344Asn) c.1096T>A (p.Tyr366Asn) c.1105T>A (p.Tyr369Asn) | |
| 1 | g.21576593T>C | CA338881805 | ALPL | c.1261T>C (p.Tyr421His) n.530T>C c.336T>C c.1030T>C (p.Tyr344His) c.1096T>C (p.Tyr366His) c.1105T>C (p.Tyr369His) | |
| 1 | g.21576593T>G | CA338881804 | ALPL | c.1261T>G (p.Tyr421Asp) n.530T>G c.336T>G c.1030T>G (p.Tyr344Asp) c.1096T>G (p.Tyr366Asp) c.1105T>G (p.Tyr369Asp) | |
| 1 | g.21576594A>C | CA338881809 | ALPL | c.1262A>C (p.Tyr421Ser) n.531A>C c.337A>C c.1031A>C (p.Tyr344Ser) c.1097A>C (p.Tyr366Ser) c.1106A>C (p.Tyr369Ser) | |
| 1 | g.21576594A>G | CA338881807 | ALPL | c.1262A>G (p.Tyr421Cys) n.531A>G c.337A>G c.1031A>G (p.Tyr344Cys) c.1097A>G (p.Tyr366Cys) c.1106A>G (p.Tyr369Cys) | ClinVar gnomAD v4 |
| 1 | g.21576594A>T | CA338881808 | ALPL | c.1262A>T (p.Tyr421Phe) n.531A>T c.337A>T c.1031A>T (p.Tyr344Phe) c.1097A>T (p.Tyr366Phe) c.1106A>T (p.Tyr369Phe) | |
| 1 | g.21576595C>A | CA338881810 | ALPL | c.1263C>A (p.Tyr421Ter) n.532C>A c.338C>A c.1032C>A (p.Tyr344Ter) c.1098C>A (p.Tyr366Ter) c.1107C>A (p.Tyr369Ter) | |
| 1 | g.21576595C= | CA1158019784 | ALPL | c.1263C= (p.Tyr421=) n.532C= c.338C= c.1032C= (p.Tyr344=) c.1098C= (p.Tyr366=) c.1107C= (p.Tyr369=) | |
| 1 | g.21576595C>G | CA338881811 | ALPL | c.1263C>G (p.Tyr421Ter) n.532C>G c.338C>G c.1032C>G (p.Tyr344Ter) c.1098C>G (p.Tyr366Ter) c.1107C>G (p.Tyr369Ter) | dbSNP |
| 1 | g.21576595C>T | CA19071242 | ALPL | c.1263C>T (p.Tyr421=) n.532C>T c.338C>T c.1032C>T (p.Tyr344=) c.1098C>T (p.Tyr366=) c.1107C>T (p.Tyr369=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21576596A>C | CA338881812 | ALPL | c.1264A>C (p.Lys422Gln) n.533A>C c.339A>C c.1033A>C (p.Lys345Gln) c.1099A>C (p.Lys367Gln) c.1108A>C (p.Lys370Gln) | |
| 1 | g.21576596A>G | CA338881813 | ALPL | c.1264A>G (p.Lys422Glu) n.533A>G c.339A>G c.1033A>G (p.Lys345Glu) c.1099A>G (p.Lys367Glu) c.1108A>G (p.Lys370Glu) |