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.233767015A= | CA1335894682 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-19A= (n.856-19A=) c.868-19A= (n.868-19A=) c.862-19A= (n.862-19A=) c.865-19A= (n.865-19A=) c.61-19A= (n.61-19A=) c.442-19A= (n.442-19A=) | |
| 2 | g.233767015A>G | CA1335894681 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-19A>G (n.856-19A>G) c.868-19A>G (n.868-19A>G) c.862-19A>G (n.862-19A>G) c.865-19A>G (n.865-19A>G) c.61-19A>G (n.61-19A>G) c.442-19A>G (n.442-19A>G) | dbSNP gnomAD v4 |
| 2 | g.233767015A>T | CA1335894680 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-19A>T (n.856-19A>T) c.868-19A>T (n.868-19A>T) c.862-19A>T (n.862-19A>T) c.865-19A>T (n.865-19A>T) c.61-19A>T (n.61-19A>T) c.442-19A>T (n.442-19A>T) | dbSNP |
| 2 | g.233767016T>A | CA2179917 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-18T>A (n.856-18T>A) c.868-18T>A (n.868-18T>A) c.862-18T>A (n.862-18T>A) c.865-18T>A (n.865-18T>A) c.61-18T>A (n.61-18T>A) c.442-18T>A (n.442-18T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767016T= | CA1335894683 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-18T= (n.856-18T=) c.868-18T= (n.868-18T=) c.862-18T= (n.862-18T=) c.865-18T= (n.865-18T=) c.61-18T= (n.61-18T=) c.442-18T= (n.442-18T=) | |
| 2 | g.233767017T>G | CA2179918 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-17T>G (n.856-17T>G) c.868-17T>G (n.868-17T>G) c.862-17T>G (n.862-17T>G) c.865-17T>G (n.865-17T>G) c.61-17T>G (n.61-17T>G) c.442-17T>G (n.442-17T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767017T= | CA1335894684 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-17T= (n.856-17T=) c.868-17T= (n.868-17T=) c.862-17T= (n.862-17T=) c.865-17T= (n.865-17T=) c.61-17T= (n.61-17T=) c.442-17T= (n.442-17T=) | |
| 2 | g.233767018T>G | CA1335894686 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-16T>G (n.856-16T>G) c.868-16T>G (n.868-16T>G) c.862-16T>G (n.862-16T>G) c.865-16T>G (n.865-16T>G) c.61-16T>G (n.61-16T>G) c.442-16T>G (n.442-16T>G) | dbSNP gnomAD v4 |
| 2 | g.233767018T= | CA1335894685 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-16T= (n.856-16T=) c.868-16T= (n.868-16T=) c.862-16T= (n.862-16T=) c.865-16T= (n.865-16T=) c.61-16T= (n.61-16T=) c.442-16T= (n.442-16T=) | |
| 2 | g.233767019T>G | CA2754693407 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-15T>G (n.856-15T>G) c.868-15T>G (n.868-15T>G) c.862-15T>G (n.862-15T>G) c.865-15T>G (n.865-15T>G) c.61-15T>G (n.61-15T>G) c.442-15T>G (n.442-15T>G) | |
| 2 | g.233767022T>G | CA540071980 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-12T>G (n.856-12T>G) c.868-12T>G (n.868-12T>G) c.862-12T>G (n.862-12T>G) c.865-12T>G (n.865-12T>G) c.61-12T>G (n.61-12T>G) c.442-12T>G (n.442-12T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767022T= | CA1335894687 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-12T= (n.856-12T=) c.868-12T= (n.868-12T=) c.862-12T= (n.862-12T=) c.865-12T= (n.865-12T=) c.61-12T= (n.61-12T=) c.442-12T= (n.442-12T=) | |
| 2 | g.233767025T>G | CA540071981 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-9T>G (n.856-9T>G) c.868-9T>G (n.868-9T>G) c.862-9T>G (n.862-9T>G) c.865-9T>G (n.865-9T>G) c.61-9T>G (n.61-9T>G) c.442-9T>G (n.442-9T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.233767025T= | CA1335894688 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-9T= (n.856-9T=) c.868-9T= (n.868-9T=) c.862-9T= (n.862-9T=) c.865-9T= (n.865-9T=) c.61-9T= (n.61-9T=) c.442-9T= (n.442-9T=) | |
| 2 | g.233767027G>A | CA2179919 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-7G>A (n.856-7G>A) c.868-7G>A (n.868-7G>A) c.862-7G>A (n.862-7G>A) c.865-7G>A (n.865-7G>A) c.61-7G>A (n.61-7G>A) c.442-7G>A (n.442-7G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767027G= | CA1335894689 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-7G= (n.856-7G=) c.868-7G= (n.868-7G=) c.862-7G= (n.862-7G=) c.865-7G= (n.865-7G=) c.61-7G= (n.61-7G=) c.442-7G= (n.442-7G=) | |
| 2 | g.233767030C>T | CA2577284398 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-4C>T (n.856-4C>T) c.868-4C>T (n.868-4C>T) c.862-4C>T (n.862-4C>T) c.865-4C>T (n.865-4C>T) c.61-4C>T (n.61-4C>T) c.442-4C>T (n.442-4C>T) | |
| 2 | g.233767032A>C | CA351071572 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-2A>C (n.856-2A>C) c.868-2A>C (n.868-2A>C) c.862-2A>C (n.862-2A>C) c.865-2A>C (n.865-2A>C) c.61-2A>C (n.61-2A>C) c.442-2A>C (n.442-2A>C) | |
| 2 | g.233767032A>G | CA351071570 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-2A>G (n.856-2A>G) c.868-2A>G (n.868-2A>G) c.862-2A>G (n.862-2A>G) c.865-2A>G (n.865-2A>G) c.61-2A>G (n.61-2A>G) c.442-2A>G (n.442-2A>G) | |
| 2 | g.233767032A>T | CA351071568 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-2A>T (n.856-2A>T) c.868-2A>T (n.868-2A>T) c.862-2A>T (n.862-2A>T) c.865-2A>T (n.865-2A>T) c.61-2A>T (n.61-2A>T) c.442-2A>T (n.442-2A>T) | |
| 2 | g.233767033G>A | CA351071573 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-1G>A (n.856-1G>A) c.868-1G>A (n.868-1G>A) c.862-1G>A (n.862-1G>A) c.865-1G>A (n.865-1G>A) c.61-1G>A (n.61-1G>A) c.442-1G>A (n.442-1G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.233767033G>C | CA351071574 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-1G>C (n.856-1G>C) c.868-1G>C (n.868-1G>C) c.862-1G>C (n.862-1G>C) c.865-1G>C (n.865-1G>C) c.61-1G>C (n.61-1G>C) c.442-1G>C (n.442-1G>C) | |
| 2 | g.233767033G= | CA1335894690 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-1G= (n.856-1G=) c.868-1G= (n.868-1G=) c.862-1G= (n.862-1G=) c.865-1G= (n.865-1G=) c.61-1G= (n.61-1G=) c.442-1G= (n.442-1G=) | |
| 2 | g.233767033G>T | CA351071575 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-1G>T (n.856-1G>T) c.868-1G>T (n.868-1G>T) c.862-1G>T (n.862-1G>T) c.865-1G>T (n.865-1G>T) c.61-1G>T (n.61-1G>T) c.442-1G>T (n.442-1G>T) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 2 | g.233767034G>A | CA351071578 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856G>A (p.Glu286Lys) c.868G>A (p.Glu290Lys) c.862G>A (p.Glu288Lys) c.865G>A (p.Glu289Lys) c.61G>A (p.Glu21Lys) c.442G>A (n.442G>A) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 2 | g.233767034G>C | CA351071583 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856G>C (p.Glu286Gln) c.868G>C (p.Glu290Gln) c.862G>C (p.Glu288Gln) c.865G>C (p.Glu289Gln) c.61G>C (p.Glu21Gln) c.442G>C (n.442G>C) | |
| 2 | g.233767034G= | CA1335894691 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856G= (p.Glu286=) c.868G= (p.Glu290=) c.862G= (p.Glu288=) c.865G= (p.Glu289=) c.61G= (p.Glu21=) c.442G= (n.442G=) | |
| 2 | g.233767034G>T | CA351071584 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856G>T (p.Glu286Ter) c.868G>T (p.Glu290Ter) c.862G>T (p.Glu288Ter) c.865G>T (p.Glu289Ter) c.61G>T (p.Glu21Ter) c.442G>T (n.442G>T) | |
| 2 | g.233767035A= | CA1335894692 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.857A= (p.Glu286=) c.869A= (p.Glu290=) c.863A= (p.Glu288=) c.866A= (p.Glu289=) c.62A= (p.Glu21=) c.443A= (n.443A=) | |
| 2 | g.233767035A>C | CA351071590 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.857A>C (p.Glu286Ala) c.869A>C (p.Glu290Ala) c.863A>C (p.Glu288Ala) c.866A>C (p.Glu289Ala) c.62A>C (p.Glu21Ala) c.443A>C (n.443A>C) | |
| 2 | g.233767035A>G | CA351071596 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.857A>G (p.Glu286Gly) c.869A>G (p.Glu290Gly) c.863A>G (p.Glu288Gly) c.866A>G (p.Glu289Gly) c.62A>G (p.Glu21Gly) c.443A>G (n.443A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.233767035A>T | CA351071598 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.857A>T (p.Glu286Val) c.869A>T (p.Glu290Val) c.863A>T (p.Glu288Val) c.866A>T (p.Glu289Val) c.62A>T (p.Glu21Val) c.443A>T (n.443A>T) | |
| 2 | g.233767036A>C | CA351071601 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.858A>C (p.Glu286Asp) c.870A>C (p.Glu290Asp) c.864A>C (p.Glu288Asp) c.867A>C (p.Glu289Asp) c.63A>C (p.Glu21Asp) c.444A>C (n.444A>C) | |
| 2 | g.233767036A>G | CA431855156 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.858A>G (p.Glu286=) c.870A>G (p.Glu290=) c.864A>G (p.Glu288=) c.867A>G (p.Glu289=) c.63A>G (p.Glu21=) c.444A>G (n.444A>G) | |
| 2 | g.233767036A>T | CA351071602 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.858A>T (p.Glu286Asp) c.870A>T (p.Glu290Asp) c.864A>T (p.Glu288Asp) c.867A>T (p.Glu289Asp) c.63A>T (p.Glu21Asp) c.444A>T (n.444A>T) | |
| 2 | g.233767037T>A | CA351071610 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.859T>A (p.Phe287Ile) c.871T>A (p.Phe291Ile) c.865T>A (p.Phe289Ile) c.868T>A (p.Phe290Ile) c.64T>A (p.Phe22Ile) c.445T>A (n.445T>A) | |
| 2 | g.233767037T>C | CA351071609 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.859T>C (p.Phe287Leu) c.871T>C (p.Phe291Leu) c.865T>C (p.Phe289Leu) c.868T>C (p.Phe290Leu) c.64T>C (p.Phe22Leu) c.445T>C (n.445T>C) | |
| 2 | g.233767037T>G | CA351071604 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.859T>G (p.Phe287Val) c.871T>G (p.Phe291Val) c.865T>G (p.Phe289Val) c.868T>G (p.Phe290Val) c.64T>G (p.Phe22Val) c.445T>G (n.445T>G) | |
| 2 | g.233767038T>A | CA351071613 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.860T>A (p.Phe287Tyr) c.872T>A (p.Phe291Tyr) c.866T>A (p.Phe289Tyr) c.869T>A (p.Phe290Tyr) c.65T>A (p.Phe22Tyr) c.446T>A (n.446T>A) | |
| 2 | g.233767038T>C | CA351071615 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.860T>C (p.Phe287Ser) c.872T>C (p.Phe291Ser) c.866T>C (p.Phe289Ser) c.869T>C (p.Phe290Ser) c.65T>C (p.Phe22Ser) c.446T>C (n.446T>C) | |
| 2 | g.233767038T>G | CA351071617 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.860T>G (p.Phe287Cys) c.872T>G (p.Phe291Cys) c.866T>G (p.Phe289Cys) c.869T>G (p.Phe290Cys) c.65T>G (p.Phe22Cys) c.446T>G (n.446T>G) | |
| 2 | g.233767039T>A | CA351071619 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.861T>A (p.Phe287Leu) c.873T>A (p.Phe291Leu) c.867T>A (p.Phe289Leu) c.870T>A (p.Phe290Leu) c.66T>A (p.Phe22Leu) c.447T>A (n.447T>A) | |
| 2 | g.233767039T>C | CA431855185 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.861T>C (p.Phe287=) c.873T>C (p.Phe291=) c.867T>C (p.Phe289=) c.870T>C (p.Phe290=) c.66T>C (p.Phe22=) c.447T>C (n.447T>C) | dbSNP gnomAD v4 |
| 2 | g.233767039T>G | CA351071625 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.861T>G (p.Phe287Leu) c.873T>G (p.Phe291Leu) c.867T>G (p.Phe289Leu) c.870T>G (p.Phe290Leu) c.66T>G (p.Phe22Leu) c.447T>G (n.447T>G) | |
| 2 | g.233767039T= | CA1335894693 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.861T= (p.Phe287=) c.873T= (p.Phe291=) c.867T= (p.Phe289=) c.870T= (p.Phe290=) c.66T= (p.Phe22=) c.447T= (n.447T=) | |
| 2 | g.233767040G>A | CA351071627 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.862G>A (p.Glu288Lys) c.874G>A (p.Glu292Lys) c.868G>A (p.Glu290Lys) c.871G>A (p.Glu291Lys) c.67G>A (p.Glu23Lys) c.448G>A (n.448G>A) | dbSNP |
| 2 | g.233767040G>C | CA351071630 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.862G>C (p.Glu288Gln) c.874G>C (p.Glu292Gln) c.868G>C (p.Glu290Gln) c.871G>C (p.Glu291Gln) c.67G>C (p.Glu23Gln) c.448G>C (n.448G>C) | |
| 2 | g.233767040G= | CA1335894694 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.862G= (p.Glu288=) c.874G= (p.Glu292=) c.868G= (p.Glu290=) c.871G= (p.Glu291=) c.67G= (p.Glu23=) c.448G= (n.448G=) | |
| 2 | g.233767040G>T | CA351071633 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.862G>T (p.Glu288Ter) c.874G>T (p.Glu292Ter) c.868G>T (p.Glu290Ter) c.871G>T (p.Glu291Ter) c.67G>T (p.Glu23Ter) c.448G>T (n.448G>T) | |
| 2 | g.233767041A>C | CA351071636 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.863A>C (p.Glu288Ala) c.875A>C (p.Glu292Ala) c.869A>C (p.Glu290Ala) c.872A>C (p.Glu291Ala) c.68A>C (p.Glu23Ala) c.449A>C (n.449A>C) |