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 |
|---|---|---|---|---|---|
| 2 | g.233767930C>A | CA351073473 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1069C>A (p.Leu357Met) c.1081C>A (p.Leu361Met) c.1075C>A (p.Leu359Met) c.1078C>A (p.Leu360Met) c.274C>A (p.Leu92Met) | gnomAD v4 |
| 2 | g.233767930C>G | CA351073476 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1069C>G (p.Leu357Val) c.1081C>G (p.Leu361Val) c.1075C>G (p.Leu359Val) c.1078C>G (p.Leu360Val) c.274C>G (p.Leu92Val) | |
| 2 | g.233767930C>T | CA431857878 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1069C>T (p.Leu357=) c.1081C>T (p.Leu361=) c.1075C>T (p.Leu359=) c.1078C>T (p.Leu360=) c.274C>T (p.Leu92=) | |
| 2 | g.233767931T>A | CA351073491 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1070T>A (p.Leu357Gln) c.1082T>A (p.Leu361Gln) c.1076T>A (p.Leu359Gln) c.1079T>A (p.Leu360Gln) c.275T>A (p.Leu92Gln) | |
| 2 | g.233767931T>C | CA351073497 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1070T>C (p.Leu357Pro) c.1082T>C (p.Leu361Pro) c.1076T>C (p.Leu359Pro) c.1079T>C (p.Leu360Pro) c.275T>C (p.Leu92Pro) | |
| 2 | g.233767931T>G | CA351073493 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1070T>G (p.Leu357Arg) c.1082T>G (p.Leu361Arg) c.1076T>G (p.Leu359Arg) c.1079T>G (p.Leu360Arg) c.275T>G (p.Leu92Arg) | |
| 2 | g.233767932G>A | CA431857900 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1071G>A (p.Leu357=) c.1083G>A (p.Leu361=) c.1077G>A (p.Leu359=) c.1080G>A (p.Leu360=) c.276G>A (p.Leu92=) | |
| 2 | g.233767932G>C | CA2179985 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1071G>C (p.Leu357=) c.1083G>C (p.Leu361=) c.1077G>C (p.Leu359=) c.1080G>C (p.Leu360=) c.276G>C (p.Leu92=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767932G= | CA1335895112 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1071G= (p.Leu357=) c.1083G= (p.Leu361=) c.1077G= (p.Leu359=) c.1080G= (p.Leu360=) c.276G= (p.Leu92=) | |
| 2 | g.233767932G>T | CA431857894 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1071G>T (p.Leu357=) c.1083G>T (p.Leu361=) c.1077G>T (p.Leu359=) c.1080G>T (p.Leu360=) c.276G>T (p.Leu92=) | |
| 2 | g.233767933C>A | CA351073498 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1072C>A (p.Leu358Ile) c.1084C>A (p.Leu362Ile) c.1078C>A (p.Leu360Ile) c.1081C>A (p.Leu361Ile) c.277C>A (p.Leu93Ile) | |
| 2 | g.233767933C>G | CA351073500 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1072C>G (p.Leu358Val) c.1084C>G (p.Leu362Val) c.1078C>G (p.Leu360Val) c.1081C>G (p.Leu361Val) c.277C>G (p.Leu93Val) | |
| 2 | g.233767933C>T | CA351073502 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1072C>T (p.Leu358Phe) c.1084C>T (p.Leu362Phe) c.1078C>T (p.Leu360Phe) c.1081C>T (p.Leu361Phe) c.277C>T (p.Leu93Phe) | |
| 2 | g.233767934T>A | CA351073505 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1073T>A (p.Leu358His) c.1085T>A (p.Leu362His) c.1079T>A (p.Leu360His) c.1082T>A (p.Leu361His) c.278T>A (p.Leu93His) | |
| 2 | g.233767934T>C | CA351073511 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1073T>C (p.Leu358Pro) c.1085T>C (p.Leu362Pro) c.1079T>C (p.Leu360Pro) c.1082T>C (p.Leu361Pro) c.278T>C (p.Leu93Pro) | gnomAD v4 |
| 2 | g.233767934T>G | CA351073508 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1073T>G (p.Leu358Arg) c.1085T>G (p.Leu362Arg) c.1079T>G (p.Leu360Arg) c.1082T>G (p.Leu361Arg) c.278T>G (p.Leu93Arg) | |
| 2 | g.233767935T>A | CA431857923 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1074T>A (p.Leu358=) c.1086T>A (p.Leu362=) c.1080T>A (p.Leu360=) c.1083T>A (p.Leu361=) c.279T>A (p.Leu93=) | |
| 2 | g.233767935T>C | CA431857920 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1074T>C (p.Leu358=) c.1086T>C (p.Leu362=) c.1080T>C (p.Leu360=) c.1083T>C (p.Leu361=) c.279T>C (p.Leu93=) | |
| 2 | g.233767935T>G | CA431857918 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1074T>G (p.Leu358=) c.1086T>G (p.Leu362=) c.1080T>G (p.Leu360=) c.1083T>G (p.Leu361=) c.279T>G (p.Leu93=) | |
| 2 | g.233767936G>A | CA2179986 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1075G>A (p.Gly359Ser) c.1087G>A (p.Gly363Ser) c.1081G>A (p.Gly361Ser) c.1084G>A (p.Gly362Ser) c.280G>A (p.Gly94Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767936G>C | CA351073517 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1075G>C (p.Gly359Arg) c.1087G>C (p.Gly363Arg) c.1081G>C (p.Gly361Arg) c.1084G>C (p.Gly362Arg) c.280G>C (p.Gly94Arg) | |
| 2 | g.233767936G= | CA1335895113 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1075G= (p.Gly359=) c.1087G= (p.Gly363=) c.1081G= (p.Gly361=) c.1084G= (p.Gly362=) c.280G= (p.Gly94=) | |
| 2 | g.233767936G>T | CA351073521 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1075G>T (p.Gly359Cys) c.1087G>T (p.Gly363Cys) c.1081G>T (p.Gly361Cys) c.1084G>T (p.Gly362Cys) c.280G>T (p.Gly94Cys) | dbSNP |
| 2 | g.233767937G>A | CA351073527 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1075+1G>A (n.1075+1G>A) c.1087+1G>A (n.1087+1G>A) c.1081+1G>A (n.1081+1G>A) c.1084+1G>A (n.1084+1G>A) c.280+1G>A (n.280+1G>A) | |
| 2 | g.233767937G>C | CA351073529 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1075+1G>C (n.1075+1G>C) c.1087+1G>C (n.1087+1G>C) c.1081+1G>C (n.1081+1G>C) c.1084+1G>C (n.1084+1G>C) c.280+1G>C (n.280+1G>C) | |
| 2 | g.233767937G= | CA1335895114 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1075+1G= (n.1075+1G=) c.1087+1G= (n.1087+1G=) c.1081+1G= (n.1081+1G=) c.1084+1G= (n.1084+1G=) c.280+1G= (n.280+1G=) | |
| 2 | g.233767937G>T | CA173821 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1075+1G>T (n.1075+1G>T) c.1087+1G>T (n.1087+1G>T) c.1081+1G>T (n.1081+1G>T) c.1084+1G>T (n.1084+1G>T) c.280+1G>T (n.280+1G>T) | ClinVar dbSNP gnomAD v4 |
| 2 | g.233767938T>A | CA351073535 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1075+2T>A (n.1075+2T>A) c.1087+2T>A (n.1087+2T>A) c.1081+2T>A (n.1081+2T>A) c.1084+2T>A (n.1084+2T>A) c.280+2T>A (n.280+2T>A) | |
| 2 | g.233767938T>C | CA351073543 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1075+2T>C (n.1075+2T>C) c.1087+2T>C (n.1087+2T>C) c.1081+2T>C (n.1081+2T>C) c.1084+2T>C (n.1084+2T>C) c.280+2T>C (n.280+2T>C) | |
| 2 | g.233767938T>G | CA2179987 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1075+2T>G (n.1075+2T>G) c.1087+2T>G (n.1087+2T>G) c.1081+2T>G (n.1081+2T>G) c.1084+2T>G (n.1084+2T>G) c.280+2T>G (n.280+2T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.233767938T= | CA1335895115 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1075+2T= (n.1075+2T=) c.1087+2T= (n.1087+2T=) c.1081+2T= (n.1081+2T=) c.1084+2T= (n.1084+2T=) c.280+2T= (n.280+2T=) | |
| 2 | g.233767939A= | CA1335895116 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1075+3A= (n.1075+3A=) c.1087+3A= (n.1087+3A=) c.1081+3A= (n.1081+3A=) c.1084+3A= (n.1084+3A=) c.280+3A= (n.280+3A=) | |
| 2 | g.233767939A>G | CA1335895117 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1075+3A>G (n.1075+3A>G) c.1087+3A>G (n.1087+3A>G) c.1081+3A>G (n.1081+3A>G) c.1084+3A>G (n.1084+3A>G) c.280+3A>G (n.280+3A>G) | dbSNP gnomAD v4 |
| 2 | g.233767940T>C | CA540311597 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1075+4T>C (n.1075+4T>C) c.1087+4T>C (n.1087+4T>C) c.1081+4T>C (n.1081+4T>C) c.1084+4T>C (n.1084+4T>C) c.280+4T>C (n.280+4T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767940T= | CA1335895118 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1075+4T= (n.1075+4T=) c.1087+4T= (n.1087+4T=) c.1081+4T= (n.1081+4T=) c.1084+4T= (n.1084+4T=) c.280+4T= (n.280+4T=) | |
| 2 | g.233767941G>A | CA2663717270 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1075+5G>A (n.1075+5G>A) c.1087+5G>A (n.1087+5G>A) c.1081+5G>A (n.1081+5G>A) c.1084+5G>A (n.1084+5G>A) c.280+5G>A (n.280+5G>A) | gnomAD v4 |
| 2 | g.233767942T>A | CA2663717271 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1075+6T>A (n.1075+6T>A) c.1087+6T>A (n.1087+6T>A) c.1081+6T>A (n.1081+6T>A) c.1084+6T>A (n.1084+6T>A) c.280+6T>A (n.280+6T>A) | gnomAD v4 |
| 2 | g.233767942T>C | CA766291361 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1075+6T>C (n.1075+6T>C) c.1087+6T>C (n.1087+6T>C) c.1081+6T>C (n.1081+6T>C) c.1084+6T>C (n.1084+6T>C) c.280+6T>C (n.280+6T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233767942T= | CA1335895119 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1075+6T= (n.1075+6T=) c.1087+6T= (n.1087+6T=) c.1081+6T= (n.1081+6T=) c.1084+6T= (n.1084+6T=) c.280+6T= (n.280+6T=) | |
| 2 | g.233767943T>C | CA2179988 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1075+7T>C (n.1075+7T>C) c.1087+7T>C (n.1087+7T>C) c.1081+7T>C (n.1081+7T>C) c.1084+7T>C (n.1084+7T>C) c.280+7T>C (n.280+7T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767943T= | CA1335895120 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1075+7T= (n.1075+7T=) c.1087+7T= (n.1087+7T=) c.1081+7T= (n.1081+7T=) c.1084+7T= (n.1084+7T=) c.280+7T= (n.280+7T=) | |
| 2 | g.233767946del | CA645531513 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1075+10del (n.1075+10del) c.1087+10del (n.1087+10del) c.1081+10del (n.1081+10del) c.1084+10del (n.1084+10del) c.280+10del (n.280+10del) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 2 | g.233767946G>A | CA540311598 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1075+10G>A (n.1075+10G>A) c.1087+10G>A (n.1087+10G>A) c.1081+10G>A (n.1081+10G>A) c.1084+10G>A (n.1084+10G>A) c.280+10G>A (n.280+10G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.233767946G= | CA1335895121 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1075+10G= (n.1075+10G=) c.1087+10G= (n.1087+10G=) c.1081+10G= (n.1081+10G=) c.1084+10G= (n.1084+10G=) c.280+10G= (n.280+10G=) | |
| 2 | g.233767947C>A | CA2701622373 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1075+11C>A (n.1075+11C>A) c.1087+11C>A (n.1087+11C>A) c.1081+11C>A (n.1081+11C>A) c.1084+11C>A (n.1084+11C>A) c.280+11C>A (n.280+11C>A) | dbSNP |
| 2 | g.233767947C= | CA1335895122 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1075+11C= (n.1075+11C=) c.1087+11C= (n.1087+11C=) c.1081+11C= (n.1081+11C=) c.1084+11C= (n.1084+11C=) c.280+11C= (n.280+11C=) | |
| 2 | g.233767947C>T | CA2179989 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1075+11C>T (n.1075+11C>T) c.1087+11C>T (n.1087+11C>T) c.1081+11C>T (n.1081+11C>T) c.1084+11C>T (n.1084+11C>T) c.280+11C>T (n.280+11C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.233767948G>A | CA2179990 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1075+12G>A (n.1075+12G>A) c.1087+12G>A (n.1087+12G>A) c.1081+12G>A (n.1081+12G>A) c.1084+12G>A (n.1084+12G>A) c.280+12G>A (n.280+12G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767948G= | CA1335895123 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1075+12G= (n.1075+12G=) c.1087+12G= (n.1087+12G=) c.1081+12G= (n.1081+12G=) c.1084+12G= (n.1084+12G=) c.280+12G= (n.280+12G=) | |
| 2 | g.233767949G>A | CA2179991 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1075+13G>A (n.1075+13G>A) c.1087+13G>A (n.1087+13G>A) c.1081+13G>A (n.1081+13G>A) c.1084+13G>A (n.1084+13G>A) c.280+13G>A (n.280+13G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |