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.233767856G>A | CA351072771 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.995G>A (p.Trp332Ter) c.1007G>A (p.Trp336Ter) c.1001G>A (p.Trp334Ter) c.1004G>A (p.Trp335Ter) c.200G>A (p.Trp67Ter) | gnomAD v4 |
| 2 | g.233767856G>C | CA351072774 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.995G>C (p.Trp332Ser) c.1007G>C (p.Trp336Ser) c.1001G>C (p.Trp334Ser) c.1004G>C (p.Trp335Ser) c.200G>C (p.Trp67Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.233767856G= | CA1335895069 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.995G= (p.Trp332=) c.1007G= (p.Trp336=) c.1001G= (p.Trp334=) c.1004G= (p.Trp335=) c.200G= (p.Trp67=) | |
| 2 | g.233767856G>T | CA351072780 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.995G>T (p.Trp332Leu) c.1007G>T (p.Trp336Leu) c.1001G>T (p.Trp334Leu) c.1004G>T (p.Trp335Leu) c.200G>T (p.Trp67Leu) | |
| 2 | g.233767857G>A | CA351072783 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.996G>A (p.Trp332Ter) c.1008G>A (p.Trp336Ter) c.1002G>A (p.Trp334Ter) c.1005G>A (p.Trp335Ter) c.201G>A (p.Trp67Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233767857G>C | CA351072787 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.996G>C (p.Trp332Cys) c.1008G>C (p.Trp336Cys) c.1002G>C (p.Trp334Cys) c.1005G>C (p.Trp335Cys) c.201G>C (p.Trp67Cys) | gnomAD v4 |
| 2 | g.233767857G= | CA1335895070 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.996G= (p.Trp332=) c.1008G= (p.Trp336=) c.1002G= (p.Trp334=) c.1005G= (p.Trp335=) c.201G= (p.Trp67=) | |
| 2 | g.233767857G>T | CA351072792 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.996G>T (p.Trp332Cys) c.1008G>T (p.Trp336Cys) c.1002G>T (p.Trp334Cys) c.1005G>T (p.Trp335Cys) c.201G>T (p.Trp67Cys) | gnomAD v4 |
| 2 | g.233767858C>A | CA431857529 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.997C>A (p.Arg333=) c.1009C>A (p.Arg337=) c.1003C>A (p.Arg335=) c.1006C>A (p.Arg336=) c.202C>A (p.Arg68=) | |
| 2 | g.233767858C= | CA1335895071 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.997C= (p.Arg333=) c.1009C= (p.Arg337=) c.1003C= (p.Arg335=) c.1006C= (p.Arg336=) c.202C= (p.Arg68=) | |
| 2 | g.233767858C>G | CA351072796 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.997C>G (p.Arg333Gly) c.1009C>G (p.Arg337Gly) c.1003C>G (p.Arg335Gly) c.1006C>G (p.Arg336Gly) c.202C>G (p.Arg68Gly) | |
| 2 | g.233767858C>T | CA2179964 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.997C>T (p.Arg333Trp) c.1009C>T (p.Arg337Trp) c.1003C>T (p.Arg335Trp) c.1006C>T (p.Arg336Trp) c.202C>T (p.Arg68Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 2 | g.233767859G>A | CA2179965 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.998G>A (p.Arg333Gln) c.1010G>A (p.Arg337Gln) c.1004G>A (p.Arg335Gln) c.1007G>A (p.Arg336Gln) c.203G>A (p.Arg68Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 2 | g.233767859G>C | CA351072805 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.998G>C (p.Arg333Pro) c.1010G>C (p.Arg337Pro) c.1004G>C (p.Arg335Pro) c.1007G>C (p.Arg336Pro) c.203G>C (p.Arg68Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767859G= | CA1335895072 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.998G= (p.Arg333=) c.1010G= (p.Arg337=) c.1004G= (p.Arg335=) c.1007G= (p.Arg336=) c.203G= (p.Arg68=) | |
| 2 | g.233767859G>T | CA351072808 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.998G>T (p.Arg333Leu) c.1010G>T (p.Arg337Leu) c.1004G>T (p.Arg335Leu) c.1007G>T (p.Arg336Leu) c.203G>T (p.Arg68Leu) | ClinVar gnomAD v4 |
| 2 | g.233767860del | CA2663717168 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.999del (p.Tyr334ThrfsTer29) c.1011del (p.Tyr338ThrfsTer29) c.1005del (p.Tyr336ThrfsTer29) c.1008del (p.Tyr337ThrfsTer29) c.204del (p.Tyr69ThrfsTer29) | gnomAD v4 |
| 2 | g.233767859_233767862dup | CA2179963 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.998_1001dup (p.Tyr334Ter) c.1010_1013dup (p.Tyr338Ter) c.1004_1007dup (p.Tyr336Ter) c.1007_1010dup (p.Tyr337Ter) c.203_206dup (p.Tyr69Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.233767860G>A | CA431857540 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.999G>A (p.Arg333=) c.1011G>A (p.Arg337=) c.1005G>A (p.Arg335=) c.1008G>A (p.Arg336=) c.204G>A (p.Arg68=) | |
| 2 | g.233767860G>C | CA431857538 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.999G>C (p.Arg333=) c.1011G>C (p.Arg337=) c.1005G>C (p.Arg335=) c.1008G>C (p.Arg336=) c.204G>C (p.Arg68=) | gnomAD v4 |
| 2 | g.233767860G= | CA1335895073 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.999G= (p.Arg333=) c.1011G= (p.Arg337=) c.1005G= (p.Arg335=) c.1008G= (p.Arg336=) c.204G= (p.Arg68=) | |
| 2 | g.233767860G>T | CA431857541 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.999G>T (p.Arg333=) c.1011G>T (p.Arg337=) c.1005G>T (p.Arg335=) c.1008G>T (p.Arg336=) c.204G>T (p.Arg68=) | dbSNP |
| 2 | g.233767861T>A | CA351072819 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1000T>A (p.Tyr334Asn) c.1012T>A (p.Tyr338Asn) c.1006T>A (p.Tyr336Asn) c.1009T>A (p.Tyr337Asn) c.205T>A (p.Tyr69Asn) | |
| 2 | g.233767861T>C | CA351072815 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1000T>C (p.Tyr334His) c.1012T>C (p.Tyr338His) c.1006T>C (p.Tyr336His) c.1009T>C (p.Tyr337His) c.205T>C (p.Tyr69His) | gnomAD v4 |
| 2 | g.233767861T>G | CA351072811 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1000T>G (p.Tyr334Asp) c.1012T>G (p.Tyr338Asp) c.1006T>G (p.Tyr336Asp) c.1009T>G (p.Tyr337Asp) c.205T>G (p.Tyr69Asp) | |
| 2 | g.233767862A= | CA1335895074 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1001A= (p.Tyr334=) c.1013A= (p.Tyr338=) c.1007A= (p.Tyr336=) c.1010A= (p.Tyr337=) c.206A= (p.Tyr69=) | |
| 2 | g.233767862A>C | CA351072823 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1001A>C (p.Tyr334Ser) c.1013A>C (p.Tyr338Ser) c.1007A>C (p.Tyr336Ser) c.1010A>C (p.Tyr337Ser) c.206A>C (p.Tyr69Ser) | |
| 2 | g.233767862A>G | CA351072836 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1001A>G (p.Tyr334Cys) c.1013A>G (p.Tyr338Cys) c.1007A>G (p.Tyr336Cys) c.1010A>G (p.Tyr337Cys) c.206A>G (p.Tyr69Cys) | dbSNP gnomAD v2 |
| 2 | g.233767862A>T | CA351072824 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1001A>T (p.Tyr334Phe) c.1013A>T (p.Tyr338Phe) c.1007A>T (p.Tyr336Phe) c.1010A>T (p.Tyr337Phe) c.206A>T (p.Tyr69Phe) | |
| 2 | g.233767863C>A | CA351072838 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1002C>A (p.Tyr334Ter) c.1014C>A (p.Tyr338Ter) c.1008C>A (p.Tyr336Ter) c.1011C>A (p.Tyr337Ter) c.207C>A (p.Tyr69Ter) | |
| 2 | g.233767863C>G | CA351072840 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1002C>G (p.Tyr334Ter) c.1014C>G (p.Tyr338Ter) c.1008C>G (p.Tyr336Ter) c.1011C>G (p.Tyr337Ter) c.207C>G (p.Tyr69Ter) | |
| 2 | g.233767863C>T | CA431857548 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1002C>T (p.Tyr334=) c.1014C>T (p.Tyr338=) c.1008C>T (p.Tyr336=) c.1011C>T (p.Tyr337=) c.207C>T (p.Tyr69=) | |
| 2 | g.233767864A= | CA1335895075 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1003A= (p.Thr335=) c.1015A= (p.Thr339=) c.1009A= (p.Thr337=) c.1012A= (p.Thr338=) c.208A= (p.Thr70=) | |
| 2 | g.233767864A>C | CA351072843 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1003A>C (p.Thr335Pro) c.1015A>C (p.Thr339Pro) c.1009A>C (p.Thr337Pro) c.1012A>C (p.Thr338Pro) c.208A>C (p.Thr70Pro) | |
| 2 | g.233767864A>G | CA67595775 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1003A>G (p.Thr335Ala) c.1015A>G (p.Thr339Ala) c.1009A>G (p.Thr337Ala) c.1012A>G (p.Thr338Ala) c.208A>G (p.Thr70Ala) | dbSNP gnomAD v4 |
| 2 | g.233767864A>T | CA351072856 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1003A>T (p.Thr335Ser) c.1015A>T (p.Thr339Ser) c.1009A>T (p.Thr337Ser) c.1012A>T (p.Thr338Ser) c.208A>T (p.Thr70Ser) | gnomAD v4 |
| 2 | g.233767865C>A | CA351072858 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1004C>A (p.Thr335Asn) c.1016C>A (p.Thr339Asn) c.1010C>A (p.Thr337Asn) c.1013C>A (p.Thr338Asn) c.209C>A (p.Thr70Asn) | |
| 2 | g.233767865C>G | CA351072860 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1004C>G (p.Thr335Ser) c.1016C>G (p.Thr339Ser) c.1010C>G (p.Thr337Ser) c.1013C>G (p.Thr338Ser) c.209C>G (p.Thr70Ser) | |
| 2 | g.233767865C>T | CA351072863 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1004C>T (p.Thr335Ile) c.1016C>T (p.Thr339Ile) c.1010C>T (p.Thr337Ile) c.1013C>T (p.Thr338Ile) c.209C>T (p.Thr70Ile) | |
| 2 | g.233767866T>A | CA431857560 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1005T>A (p.Thr335=) c.1017T>A (p.Thr339=) c.1011T>A (p.Thr337=) c.1014T>A (p.Thr338=) c.210T>A (p.Thr70=) | |
| 2 | g.233767866T>C | CA431857563 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1005T>C (p.Thr335=) c.1017T>C (p.Thr339=) c.1011T>C (p.Thr337=) c.1014T>C (p.Thr338=) c.210T>C (p.Thr70=) | |
| 2 | g.233767866T>G | CA67595776 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1005T>G (p.Thr335=) c.1017T>G (p.Thr339=) c.1011T>G (p.Thr337=) c.1014T>G (p.Thr338=) c.210T>G (p.Thr70=) | dbSNP gnomAD v4 |
| 2 | g.233767866T= | CA1335895076 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1005T= (p.Thr335=) c.1017T= (p.Thr339=) c.1011T= (p.Thr337=) c.1014T= (p.Thr338=) c.210T= (p.Thr70=) | |
| 2 | g.233767867G>A | CA351072874 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1006G>A (p.Gly336Arg) c.1018G>A (p.Gly340Arg) c.1012G>A (p.Gly338Arg) c.1015G>A (p.Gly339Arg) c.211G>A (p.Gly71Arg) | gnomAD v4 |
| 2 | g.233767867G>C | CA351072875 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1006G>C (p.Gly336Arg) c.1018G>C (p.Gly340Arg) c.1012G>C (p.Gly338Arg) c.1015G>C (p.Gly339Arg) c.211G>C (p.Gly71Arg) | |
| 2 | g.233767867G>T | CA351072876 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1006G>T (p.Gly336Ter) c.1018G>T (p.Gly340Ter) c.1012G>T (p.Gly338Ter) c.1015G>T (p.Gly339Ter) c.211G>T (p.Gly71Ter) | |
| 2 | g.233767868G>A | CA351072879 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1007G>A (p.Gly336Glu) c.1019G>A (p.Gly340Glu) c.1013G>A (p.Gly338Glu) c.1016G>A (p.Gly339Glu) c.212G>A (p.Gly71Glu) | gnomAD v4 |
| 2 | g.233767868G>C | CA351072877 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1007G>C (p.Gly336Ala) c.1019G>C (p.Gly340Ala) c.1013G>C (p.Gly338Ala) c.1016G>C (p.Gly339Ala) c.212G>C (p.Gly71Ala) | |
| 2 | g.233767868G>T | CA351072878 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1007G>T (p.Gly336Val) c.1019G>T (p.Gly340Val) c.1013G>T (p.Gly338Val) c.1016G>T (p.Gly339Val) c.212G>T (p.Gly71Val) | |
| 2 | g.233767869A>C | CA431857571 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1008A>C (p.Gly336=) c.1020A>C (p.Gly340=) c.1014A>C (p.Gly338=) c.1017A>C (p.Gly339=) c.213A>C (p.Gly71=) |