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.233767850T>A | CA351072723 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.989T>A (p.Val330Asp) c.1001T>A (p.Val334Asp) c.995T>A (p.Val332Asp) c.998T>A (p.Val333Asp) c.194T>A (p.Val65Asp) | |
| 2 | g.233767850T>C | CA351072735 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.989T>C (p.Val330Ala) c.1001T>C (p.Val334Ala) c.995T>C (p.Val332Ala) c.998T>C (p.Val333Ala) c.194T>C (p.Val65Ala) | |
| 2 | g.233767850T>G | CA351072737 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.989T>G (p.Val330Gly) c.1001T>G (p.Val334Gly) c.995T>G (p.Val332Gly) c.998T>G (p.Val333Gly) c.194T>G (p.Val65Gly) | |
| 2 | g.233767851C>A | CA431857495 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.990C>A (p.Val330=) c.1002C>A (p.Val334=) c.996C>A (p.Val332=) c.999C>A (p.Val333=) c.195C>A (p.Val65=) | |
| 2 | g.233767851C= | CA1335895066 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.990C= (p.Val330=) c.1002C= (p.Val334=) c.996C= (p.Val332=) c.999C= (p.Val333=) c.195C= (p.Val65=) | |
| 2 | g.233767851C>G | CA2179961 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.990C>G (p.Val330=) c.1002C>G (p.Val334=) c.996C>G (p.Val332=) c.999C>G (p.Val333=) c.195C>G (p.Val65=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.233767851C>T | CA431857498 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.990C>T (p.Val330=) c.1002C>T (p.Val334=) c.996C>T (p.Val332=) c.999C>T (p.Val333=) c.195C>T (p.Val65=) | |
| 2 | g.233767852C>A | CA351072741 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.991C>A (p.Leu331Met) c.1003C>A (p.Leu335Met) c.997C>A (p.Leu333Met) c.1000C>A (p.Leu334Met) c.196C>A (p.Leu66Met) | |
| 2 | g.233767852C>G | CA351072743 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.991C>G (p.Leu331Val) c.1003C>G (p.Leu335Val) c.997C>G (p.Leu333Val) c.1000C>G (p.Leu334Val) c.196C>G (p.Leu66Val) | |
| 2 | g.233767852C>T | CA431857500 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.991C>T (p.Leu331=) c.1003C>T (p.Leu335=) c.997C>T (p.Leu333=) c.1000C>T (p.Leu334=) c.196C>T (p.Leu66=) | |
| 2 | g.233767853T>A | CA2179962 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.992T>A (p.Leu331Gln) c.1004T>A (p.Leu335Gln) c.998T>A (p.Leu333Gln) c.1001T>A (p.Leu334Gln) c.197T>A (p.Leu66Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.233767853T>C | CA351072750 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.992T>C (p.Leu331Pro) c.1004T>C (p.Leu335Pro) c.998T>C (p.Leu333Pro) c.1001T>C (p.Leu334Pro) c.197T>C (p.Leu66Pro) | gnomAD v4 |
| 2 | g.233767853T>G | CA351072754 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.992T>G (p.Leu331Arg) c.1004T>G (p.Leu335Arg) c.998T>G (p.Leu333Arg) c.1001T>G (p.Leu334Arg) c.197T>G (p.Leu66Arg) | |
| 2 | g.233767853T= | CA1335895067 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.992T= (p.Leu331=) c.1004T= (p.Leu335=) c.998T= (p.Leu333=) c.1001T= (p.Leu334=) c.197T= (p.Leu66=) | |
| 2 | g.233767853_233767854delinsTG | CA1335895068 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.992_993delinsTG (p.Leu331=) c.1004_1005delinsTG (p.Leu335=) c.998_999delinsTG (p.Leu333=) c.1001_1002delinsTG (p.Leu334=) c.197_198delinsTG (p.Leu66=) | |
| 2 | g.233767854del | CA916801553 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.993del (p.Trp332GlyfsTer?) c.1005del (p.Trp336GlyfsTer?) c.999del (p.Trp334GlyfsTer?) c.1002del (p.Trp335GlyfsTer?) c.198del (p.Trp67GlyfsTer?) | ClinVar dbSNP gnomAD v4 |
| 2 | g.233767854G>A | CA431857510 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.993G>A (p.Leu331=) c.1005G>A (p.Leu335=) c.999G>A (p.Leu333=) c.1002G>A (p.Leu334=) c.198G>A (p.Leu66=) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 2 | g.233767854G>C | CA431857512 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.993G>C (p.Leu331=) c.1005G>C (p.Leu335=) c.999G>C (p.Leu333=) c.1002G>C (p.Leu334=) c.198G>C (p.Leu66=) | |
| 2 | g.233767854G>T | CA431857509 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.993G>T (p.Leu331=) c.1005G>T (p.Leu335=) c.999G>T (p.Leu333=) c.1002G>T (p.Leu334=) c.198G>T (p.Leu66=) | |
| 2 | g.233767855T>A | CA351072767 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.994T>A (p.Trp332Arg) c.1006T>A (p.Trp336Arg) c.1000T>A (p.Trp334Arg) c.1003T>A (p.Trp335Arg) c.199T>A (p.Trp67Arg) | |
| 2 | g.233767855T>C | CA351072763 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.994T>C (p.Trp332Arg) c.1006T>C (p.Trp336Arg) c.1000T>C (p.Trp334Arg) c.1003T>C (p.Trp335Arg) c.199T>C (p.Trp67Arg) | |
| 2 | g.233767855T>G | CA351072761 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.994T>G (p.Trp332Gly) c.1006T>G (p.Trp336Gly) c.1000T>G (p.Trp334Gly) c.1003T>G (p.Trp335Gly) c.199T>G (p.Trp67Gly) | |
| 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 |