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 |
|---|---|---|---|---|---|
| 2 | g.233768333A= | CA1335895291 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1189A= (p.Asn397=) c.1201A= (p.Asn401=) c.1195A= (p.Asn399=) c.1198A= (p.Asn400=) c.394A= (p.Asn132=) | |
| 2 | g.233768333A>C | CA67596366 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1189A>C (p.Asn397His) c.1201A>C (p.Asn401His) c.1195A>C (p.Asn399His) c.1198A>C (p.Asn400His) c.394A>C (p.Asn132His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233768333A>G | CA122104 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1189A>G (p.Asn397Asp) c.1201A>G (p.Asn401Asp) c.1195A>G (p.Asn399Asp) c.1198A>G (p.Asn400Asp) c.394A>G (p.Asn132Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233768333A>T | CA351074920 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1189A>T (p.Asn397Tyr) c.1201A>T (p.Asn401Tyr) c.1195A>T (p.Asn399Tyr) c.1198A>T (p.Asn400Tyr) c.394A>T (p.Asn132Tyr) | |
| 2 | g.233768334A>C | CA351074924 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1190A>C (p.Asn397Thr) c.1202A>C (p.Asn401Thr) c.1196A>C (p.Asn399Thr) c.1199A>C (p.Asn400Thr) c.395A>C (p.Asn132Thr) | |
| 2 | g.233768334A>G | CA351074925 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1190A>G (p.Asn397Ser) c.1202A>G (p.Asn401Ser) c.1196A>G (p.Asn399Ser) c.1199A>G (p.Asn400Ser) c.395A>G (p.Asn132Ser) | gnomAD v4 |
| 2 | g.233768334A>T | CA351074927 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1190A>T (p.Asn397Ile) c.1202A>T (p.Asn401Ile) c.1196A>T (p.Asn399Ile) c.1199A>T (p.Asn400Ile) c.395A>T (p.Asn132Ile) | |
| 2 | g.233768335T>A | CA67596377 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1191T>A (p.Asn397Lys) c.1203T>A (p.Asn401Lys) c.1197T>A (p.Asn399Lys) c.1200T>A (p.Asn400Lys) c.396T>A (p.Asn132Lys) | dbSNP |
| 2 | g.233768335T>C | CA2180029 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1191T>C (p.Asn397=) c.1203T>C (p.Asn401=) c.1197T>C (p.Asn399=) c.1200T>C (p.Asn400=) c.396T>C (p.Asn132=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233768335T>G | CA351074928 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1191T>G (p.Asn397Lys) c.1203T>G (p.Asn401Lys) c.1197T>G (p.Asn399Lys) c.1200T>G (p.Asn400Lys) c.396T>G (p.Asn132Lys) | |
| 2 | g.233768335T= | CA1335895292 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1191T= (p.Asn397=) c.1203T= (p.Asn401=) c.1197T= (p.Asn399=) c.1200T= (p.Asn400=) c.396T= (p.Asn132=) | |
| 2 | g.233768336G>A | CA351074929 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1192G>A (p.Ala398Thr) c.1204G>A (p.Ala402Thr) c.1198G>A (p.Ala400Thr) c.1201G>A (p.Ala401Thr) c.397G>A (p.Ala133Thr) | |
| 2 | g.233768336G>C | CA67596390 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1192G>C (p.Ala398Pro) c.1204G>C (p.Ala402Pro) c.1198G>C (p.Ala400Pro) c.1201G>C (p.Ala401Pro) c.397G>C (p.Ala133Pro) | dbSNP |
| 2 | g.233768336G= | CA1335895293 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1192G= (p.Ala398=) c.1204G= (p.Ala402=) c.1198G= (p.Ala400=) c.1201G= (p.Ala401=) c.397G= (p.Ala133=) | |
| 2 | g.233768336G>T | CA351074930 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1192G>T (p.Ala398Ser) c.1204G>T (p.Ala402Ser) c.1198G>T (p.Ala400Ser) c.1201G>T (p.Ala401Ser) c.397G>T (p.Ala133Ser) | |
| 2 | g.233768337C>A | CA351074931 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1193C>A (p.Ala398Glu) c.1205C>A (p.Ala402Glu) c.1199C>A (p.Ala400Glu) c.1202C>A (p.Ala401Glu) c.398C>A (p.Ala133Glu) | gnomAD v4 |
| 2 | g.233768337C>G | CA351074932 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1193C>G (p.Ala398Gly) c.1205C>G (p.Ala402Gly) c.1199C>G (p.Ala400Gly) c.1202C>G (p.Ala401Gly) c.398C>G (p.Ala133Gly) | |
| 2 | g.233768337C>T | CA351074933 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1193C>T (p.Ala398Val) c.1205C>T (p.Ala402Val) c.1199C>T (p.Ala400Val) c.1202C>T (p.Ala401Val) c.398C>T (p.Ala133Val) | |
| 2 | g.233768338A>C | CA431859841 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1194A>C (p.Ala398=) c.1206A>C (p.Ala402=) c.1200A>C (p.Ala400=) c.1203A>C (p.Ala401=) c.399A>C (p.Ala133=) | |
| 2 | g.233768338A>G | CA431859839 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1194A>G (p.Ala398=) c.1206A>G (p.Ala402=) c.1200A>G (p.Ala400=) c.1203A>G (p.Ala401=) c.399A>G (p.Ala133=) | |
| 2 | g.233768338A>T | CA431859843 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1194A>T (p.Ala398=) c.1206A>T (p.Ala402=) c.1200A>T (p.Ala400=) c.1203A>T (p.Ala401=) c.399A>T (p.Ala133=) | |
| 2 | g.233768339A>C | CA351074935 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1195A>C (p.Lys399Gln) c.1207A>C (p.Lys403Gln) c.1201A>C (p.Lys401Gln) c.1204A>C (p.Lys402Gln) c.400A>C (p.Lys134Gln) | |
| 2 | g.233768339A>G | CA351074936 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1195A>G (p.Lys399Glu) c.1207A>G (p.Lys403Glu) c.1201A>G (p.Lys401Glu) c.1204A>G (p.Lys402Glu) c.400A>G (p.Lys134Glu) | |
| 2 | g.233768339A>T | CA351074934 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1195A>T (p.Lys399Ter) c.1207A>T (p.Lys403Ter) c.1201A>T (p.Lys401Ter) c.1204A>T (p.Lys402Ter) c.400A>T (p.Lys134Ter) | |
| 2 | g.233768340A>C | CA351074937 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1196A>C (p.Lys399Thr) c.1208A>C (p.Lys403Thr) c.1202A>C (p.Lys401Thr) c.1205A>C (p.Lys402Thr) c.401A>C (p.Lys134Thr) | |
| 2 | g.233768340A>G | CA351074938 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1196A>G (p.Lys399Arg) c.1208A>G (p.Lys403Arg) c.1202A>G (p.Lys401Arg) c.1205A>G (p.Lys402Arg) c.401A>G (p.Lys134Arg) | |
| 2 | g.233768340A>T | CA351074939 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1196A>T (p.Lys399Met) c.1208A>T (p.Lys403Met) c.1202A>T (p.Lys401Met) c.1205A>T (p.Lys402Met) c.401A>T (p.Lys134Met) | |
| 2 | g.233768341G>A | CA431859860 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1197G>A (p.Lys399=) c.1209G>A (p.Lys403=) c.1203G>A (p.Lys401=) c.1206G>A (p.Lys402=) c.402G>A (p.Lys134=) | |
| 2 | g.233768341G>C | CA351074940 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1197G>C (p.Lys399Asn) c.1209G>C (p.Lys403Asn) c.1203G>C (p.Lys401Asn) c.1206G>C (p.Lys402Asn) c.402G>C (p.Lys134Asn) | |
| 2 | g.233768341G>T | CA351074941 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1197G>T (p.Lys399Asn) c.1209G>T (p.Lys403Asn) c.1203G>T (p.Lys401Asn) c.1206G>T (p.Lys402Asn) c.402G>T (p.Lys134Asn) | |
| 2 | g.233768342C>A | CA351074942 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1198C>A (p.Arg400Ser) c.1210C>A (p.Arg404Ser) c.1204C>A (p.Arg402Ser) c.1207C>A (p.Arg403Ser) c.403C>A (p.Arg135Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233768342C= | CA1335895294 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1198C= (p.Arg400=) c.1210C= (p.Arg404=) c.1204C= (p.Arg402=) c.1207C= (p.Arg403=) c.403C= (p.Arg135=) | |
| 2 | g.233768342C>G | CA351074943 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1198C>G (p.Arg400Gly) c.1210C>G (p.Arg404Gly) c.1204C>G (p.Arg402Gly) c.1207C>G (p.Arg403Gly) c.403C>G (p.Arg135Gly) | gnomAD v4 |
| 2 | g.233768342C>T | CA2180030 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1198C>T (p.Arg400Cys) c.1210C>T (p.Arg404Cys) c.1204C>T (p.Arg402Cys) c.1207C>T (p.Arg403Cys) c.403C>T (p.Arg135Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233768343G>A | CA2180031 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1199G>A (p.Arg400His) c.1211G>A (p.Arg404His) c.1205G>A (p.Arg402His) c.1208G>A (p.Arg403His) c.404G>A (p.Arg135His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 2 | g.233768343G>C | CA351074945 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1199G>C (p.Arg400Pro) c.1211G>C (p.Arg404Pro) c.1205G>C (p.Arg402Pro) c.1208G>C (p.Arg403Pro) c.404G>C (p.Arg135Pro) | |
| 2 | g.233768343G= | CA1335895295 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1199G= (p.Arg400=) c.1211G= (p.Arg404=) c.1205G= (p.Arg402=) c.1208G= (p.Arg403=) c.404G= (p.Arg135=) | |
| 2 | g.233768343G>T | CA351074944 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1199G>T (p.Arg400Leu) c.1211G>T (p.Arg404Leu) c.1205G>T (p.Arg402Leu) c.1208G>T (p.Arg403Leu) c.404G>T (p.Arg135Leu) | ClinVar dbSNP gnomAD v4 |
| 2 | g.233768344C>A | CA431859883 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1200C>A (p.Arg400=) c.1212C>A (p.Arg404=) c.1206C>A (p.Arg402=) c.1209C>A (p.Arg403=) c.405C>A (p.Arg135=) | |
| 2 | g.233768344C= | CA1335895296 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1200C= (p.Arg400=) c.1212C= (p.Arg404=) c.1206C= (p.Arg402=) c.1209C= (p.Arg403=) c.405C= (p.Arg135=) | |
| 2 | g.233768344C>G | CA431859880 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1200C>G (p.Arg400=) c.1212C>G (p.Arg404=) c.1206C>G (p.Arg402=) c.1209C>G (p.Arg403=) c.405C>G (p.Arg135=) | |
| 2 | g.233768344C>T | CA2180032 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1200C>T (p.Arg400=) c.1212C>T (p.Arg404=) c.1206C>T (p.Arg402=) c.1209C>T (p.Arg403=) c.405C>T (p.Arg135=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233768345A= | CA1335895297 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1201A= (p.Met401=) c.1213A= (p.Met405=) c.1207A= (p.Met403=) c.1210A= (p.Met404=) c.406A= (p.Met136=) | |
| 2 | g.233768345A>C | CA351074946 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1201A>C (p.Met401Leu) c.1213A>C (p.Met405Leu) c.1207A>C (p.Met403Leu) c.1210A>C (p.Met404Leu) c.406A>C (p.Met136Leu) | dbSNP |
| 2 | g.233768345A>G | CA2180033 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1201A>G (p.Met401Val) c.1213A>G (p.Met405Val) c.1207A>G (p.Met403Val) c.1210A>G (p.Met404Val) c.406A>G (p.Met136Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233768345A>T | CA351074947 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1201A>T (p.Met401Leu) c.1213A>T (p.Met405Leu) c.1207A>T (p.Met403Leu) c.1210A>T (p.Met404Leu) c.406A>T (p.Met136Leu) | |
| 2 | g.233768346T>A | CA351074948 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1202T>A (p.Met401Lys) c.1214T>A (p.Met405Lys) c.1208T>A (p.Met403Lys) c.1211T>A (p.Met404Lys) c.407T>A (p.Met136Lys) | |
| 2 | g.233768346T>C | CA2180034 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1202T>C (p.Met401Thr) c.1214T>C (p.Met405Thr) c.1208T>C (p.Met403Thr) c.1211T>C (p.Met404Thr) c.407T>C (p.Met136Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233768346T>G | CA351074949 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1202T>G (p.Met401Arg) c.1214T>G (p.Met405Arg) c.1208T>G (p.Met403Arg) c.1211T>G (p.Met404Arg) c.407T>G (p.Met136Arg) | |
| 2 | g.233768346T= | CA1335895298 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1202T= (p.Met401=) c.1214T= (p.Met405=) c.1208T= (p.Met403=) c.1211T= (p.Met404=) c.407T= (p.Met136=) |