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 |
|---|---|---|---|---|---|
| 16 | g.20348252C>A | CA394983713 | UMOD | c.944G>T (p.Cys315Phe) c.1043G>T (p.Cys348Phe) c.1091G>T (p.Cys364Phe) c.1028G>T (p.Cys343Phe) n.1169G>T | |
| 16 | g.20348252C= | CA2211941288 | UMOD | c.944G= (p.Cys315=) c.1043G= (p.Cys348=) c.1091G= (p.Cys364=) c.1028G= (p.Cys343=) n.1169G= | |
| 16 | g.20348252C>G | CA394983714 | UMOD | c.944G>C (p.Cys315Ser) c.1043G>C (p.Cys348Ser) c.1091G>C (p.Cys364Ser) c.1028G>C (p.Cys343Ser) n.1169G>C | |
| 16 | g.20348252C>T | CA221978 | UMOD | c.944G>A (p.Cys315Tyr) c.1043G>A (p.Cys348Tyr) c.1091G>A (p.Cys364Tyr) c.1028G>A (p.Cys343Tyr) n.1169G>A | ClinVar dbSNP |
| 16 | g.20348253A= | CA2211941295 | UMOD | c.943T= (p.Cys315=) c.1042T= (p.Cys348=) c.1090T= (p.Cys364=) c.1027T= (p.Cys343=) n.1168T= | |
| 16 | g.20348253A>C | CA394983716 | UMOD | c.943T>G (p.Cys315Gly) c.1042T>G (p.Cys348Gly) c.1090T>G (p.Cys364Gly) c.1027T>G (p.Cys343Gly) n.1168T>G | |
| 16 | g.20348253A>G | CA256254 | UMOD | c.943T>C (p.Cys315Arg) c.1042T>C (p.Cys348Arg) c.1090T>C (p.Cys364Arg) c.1027T>C (p.Cys343Arg) n.1168T>C | ClinVar dbSNP |
| 16 | g.20348253A>T | CA394983717 | UMOD | c.943T>A (p.Cys315Ser) c.1042T>A (p.Cys348Ser) c.1090T>A (p.Cys364Ser) c.1027T>A (p.Cys343Ser) n.1168T>A | |
| 16 | g.20348254G>A | CA494096814 | UMOD | c.942C>T (p.His314=) c.1041C>T (p.His347=) c.1089C>T (p.His363=) c.1026C>T (p.His342=) n.1167C>T | |
| 16 | g.20348254G>C | CA394983719 | UMOD | c.942C>G (p.His314Gln) c.1041C>G (p.His347Gln) c.1089C>G (p.His363Gln) c.1026C>G (p.His342Gln) n.1167C>G | |
| 16 | g.20348254G= | CA2211941304 | UMOD | c.942C= (p.His314=) c.1041C= (p.His347=) c.1089C= (p.His363=) c.1026C= (p.His342=) n.1167C= | |
| 16 | g.20348254G>T | CA394983718 | UMOD | c.942C>A (p.His314Gln) c.1041C>A (p.His347Gln) c.1089C>A (p.His363Gln) c.1026C>A (p.His342Gln) n.1167C>A | ClinVar dbSNP gnomAD v4 |
| 16 | g.20348255T>A | CA394983720 | UMOD | c.941A>T (p.His314Leu) c.1040A>T (p.His347Leu) c.1088A>T (p.His363Leu) c.1025A>T (p.His342Leu) n.1166A>T | |
| 16 | g.20348255T>C | CA394983721 | UMOD | c.941A>G (p.His314Arg) c.1040A>G (p.His347Arg) c.1088A>G (p.His363Arg) c.1025A>G (p.His342Arg) n.1166A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.20348255T>G | CA394983722 | UMOD | c.941A>C (p.His314Pro) c.1040A>C (p.His347Pro) c.1088A>C (p.His363Pro) c.1025A>C (p.His342Pro) n.1166A>C | |
| 16 | g.20348255T= | CA2211941305 | UMOD | c.941A= (p.His314=) c.1040A= (p.His347=) c.1088A= (p.His363=) c.1025A= (p.His342=) n.1166A= | |
| 16 | g.20348256G>A | CA394983723 | UMOD | c.940C>T (p.His314Tyr) c.1039C>T (p.His347Tyr) c.1087C>T (p.His363Tyr) c.1024C>T (p.His342Tyr) n.1165C>T | |
| 16 | g.20348256G>C | CA394983725 | UMOD | c.940C>G (p.His314Asp) c.1039C>G (p.His347Asp) c.1087C>G (p.His363Asp) c.1024C>G (p.His342Asp) n.1165C>G | |
| 16 | g.20348256G>T | CA394983726 | UMOD | c.940C>A (p.His314Asn) c.1039C>A (p.His347Asn) c.1087C>A (p.His363Asn) c.1024C>A (p.His342Asn) n.1165C>A | |
| 16 | g.20348257C>A | CA394983728 | UMOD | c.939G>T (p.Trp313Cys) c.1038G>T (p.Trp346Cys) c.1086G>T (p.Trp362Cys) c.1023G>T (p.Trp341Cys) n.1164G>T | |
| 16 | g.20348257C>G | CA394983730 | UMOD | c.939G>C (p.Trp313Cys) c.1038G>C (p.Trp346Cys) c.1086G>C (p.Trp362Cys) c.1023G>C (p.Trp341Cys) n.1164G>C | |
| 16 | g.20348257C>T | CA394983731 | UMOD | c.939G>A (p.Trp313Ter) c.1038G>A (p.Trp346Ter) c.1086G>A (p.Trp362Ter) c.1023G>A (p.Trp341Ter) n.1164G>A | gnomAD v4 |
| 16 | g.20348258C>A | CA394983732 | UMOD | c.938G>T (p.Trp313Leu) c.1037G>T (p.Trp346Leu) c.1085G>T (p.Trp362Leu) c.1022G>T (p.Trp341Leu) n.1163G>T | |
| 16 | g.20348258C>G | CA394983734 | UMOD | c.938G>C (p.Trp313Ser) c.1037G>C (p.Trp346Ser) c.1085G>C (p.Trp362Ser) c.1022G>C (p.Trp341Ser) n.1163G>C | |
| 16 | g.20348258C>T | CA394983735 | UMOD | c.938G>A (p.Trp313Ter) c.1037G>A (p.Trp346Ter) c.1085G>A (p.Trp362Ter) c.1022G>A (p.Trp341Ter) n.1163G>A | |
| 16 | g.20348259A>C | CA394983740 | UMOD | c.937T>G (p.Trp313Gly) c.1036T>G (p.Trp346Gly) c.1084T>G (p.Trp362Gly) c.1021T>G (p.Trp341Gly) n.1162T>G | |
| 16 | g.20348259A>G | CA394983739 | UMOD | c.937T>C (p.Trp313Arg) c.1036T>C (p.Trp346Arg) c.1084T>C (p.Trp362Arg) c.1021T>C (p.Trp341Arg) n.1162T>C | |
| 16 | g.20348259A>T | CA394983737 | UMOD | c.937T>A (p.Trp313Arg) c.1036T>A (p.Trp346Arg) c.1084T>A (p.Trp362Arg) c.1021T>A (p.Trp341Arg) n.1162T>A | |
| 16 | g.20348260T>A | CA394983742 | UMOD | c.936A>T (p.Arg312Ser) c.1035A>T (p.Arg345Ser) c.1083A>T (p.Arg361Ser) c.1020A>T (p.Arg340Ser) n.1161A>T | |
| 16 | g.20348260T>C | CA494096817 | UMOD | c.936A>G (p.Arg312=) c.1035A>G (p.Arg345=) c.1083A>G (p.Arg361=) c.1020A>G (p.Arg340=) n.1161A>G | |
| 16 | g.20348260T>G | CA394983744 | UMOD | c.936A>C (p.Arg312Ser) c.1035A>C (p.Arg345Ser) c.1083A>C (p.Arg361Ser) c.1020A>C (p.Arg340Ser) n.1161A>C | |
| 16 | g.20348261C>A | CA394983745 | UMOD | c.935G>T (p.Arg312Ile) c.1034G>T (p.Arg345Ile) c.1082G>T (p.Arg361Ile) c.1019G>T (p.Arg340Ile) n.1160G>T | |
| 16 | g.20348261C>G | CA394983747 | UMOD | c.935G>C (p.Arg312Thr) c.1034G>C (p.Arg345Thr) c.1082G>C (p.Arg361Thr) c.1019G>C (p.Arg340Thr) n.1160G>C | |
| 16 | g.20348261C>T | CA394983748 | UMOD | c.935G>A (p.Arg312Lys) c.1034G>A (p.Arg345Lys) c.1082G>A (p.Arg361Lys) c.1019G>A (p.Arg340Lys) n.1160G>A | |
| 16 | g.20348262T>A | CA394983750 | UMOD | c.934A>T (p.Arg312Ter) c.1033A>T (p.Arg345Ter) c.1081A>T (p.Arg361Ter) c.1018A>T (p.Arg340Ter) n.1159A>T | |
| 16 | g.20348262T>C | CA394983752 | UMOD | c.934A>G (p.Arg312Gly) c.1033A>G (p.Arg345Gly) c.1081A>G (p.Arg361Gly) c.1018A>G (p.Arg340Gly) n.1159A>G | |
| 16 | g.20348262T>G | CA494096821 | UMOD | c.934A>C (p.Arg312=) c.1033A>C (p.Arg345=) c.1081A>C (p.Arg361=) c.1018A>C (p.Arg340=) n.1159A>C | |
| 16 | g.20348263G>A | CA216162 | UMOD | c.933C>T (p.Gly311=) c.1032C>T (p.Gly344=) c.1080C>T (p.Gly360=) c.1017C>T (p.Gly339=) n.1158C>T | ClinVar dbSNP |
| 16 | g.20348263G>C | CA494096823 | UMOD | c.933C>G (p.Gly311=) c.1032C>G (p.Gly344=) c.1080C>G (p.Gly360=) c.1017C>G (p.Gly339=) n.1158C>G | |
| 16 | g.20348263G= | CA2211941316 | UMOD | c.933C= (p.Gly311=) c.1032C= (p.Gly344=) c.1080C= (p.Gly360=) c.1017C= (p.Gly339=) n.1158C= | |
| 16 | g.20348263G>T | CA494096822 | UMOD | c.933C>A (p.Gly311=) c.1032C>A (p.Gly344=) c.1080C>A (p.Gly360=) c.1017C>A (p.Gly339=) n.1158C>A | dbSNP gnomAD v4 |
| 16 | g.20348264C>A | CA394983754 | UMOD | c.932G>T (p.Gly311Val) c.1031G>T (p.Gly344Val) c.1079G>T (p.Gly360Val) c.1016G>T (p.Gly339Val) n.1157G>T | |
| 16 | g.20348264C>G | CA394983756 | UMOD | c.932G>C (p.Gly311Ala) c.1031G>C (p.Gly344Ala) c.1079G>C (p.Gly360Ala) c.1016G>C (p.Gly339Ala) n.1157G>C | |
| 16 | g.20348264C>T | CA394983757 | UMOD | c.932G>A (p.Gly311Asp) c.1031G>A (p.Gly344Asp) c.1079G>A (p.Gly360Asp) c.1016G>A (p.Gly339Asp) n.1157G>A | |
| 16 | g.20348265C>A | CA394983759 | UMOD | c.931G>T (p.Gly311Cys) c.1030G>T (p.Gly344Cys) c.1078G>T (p.Gly360Cys) c.1015G>T (p.Gly339Cys) n.1156G>T | COSMIC COSMIC |
| 16 | g.20348265C>G | CA394983760 | UMOD | c.931G>C (p.Gly311Arg) c.1030G>C (p.Gly344Arg) c.1078G>C (p.Gly360Arg) c.1015G>C (p.Gly339Arg) n.1156G>C | |
| 16 | g.20348265C>T | CA394983761 | UMOD | c.931G>A (p.Gly311Ser) c.1030G>A (p.Gly344Ser) c.1078G>A (p.Gly360Ser) c.1015G>A (p.Gly339Ser) n.1156G>A | |
| 16 | g.20348266A>C | CA394983763 | UMOD | c.930T>G (p.Asn310Lys) c.1029T>G (p.Asn343Lys) c.1077T>G (p.Asn359Lys) c.1014T>G (p.Asn338Lys) n.1155T>G | |
| 16 | g.20348266A>G | CA494096826 | UMOD | c.930T>C (p.Asn310=) c.1029T>C (p.Asn343=) c.1077T>C (p.Asn359=) c.1014T>C (p.Asn338=) n.1155T>C | |
| 16 | g.20348266A>T | CA394983765 | UMOD | c.930T>A (p.Asn310Lys) c.1029T>A (p.Asn343Lys) c.1077T>A (p.Asn359Lys) c.1014T>A (p.Asn338Lys) n.1155T>A |