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.233767067C>A | CA351071784 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.889C>A (p.His297Asn) c.901C>A (p.His301Asn) c.895C>A (p.His299Asn) c.898C>A (p.His300Asn) c.94C>A (p.His32Asn) c.475C>A (n.475C>A) | |
| 2 | g.233767067C>G | CA351071786 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.889C>G (p.His297Asp) c.901C>G (p.His301Asp) c.895C>G (p.His299Asp) c.898C>G (p.His300Asp) c.94C>G (p.His32Asp) c.475C>G (n.475C>G) | gnomAD v4 |
| 2 | g.233767067C>T | CA351071788 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.889C>T (p.His297Tyr) c.901C>T (p.His301Tyr) c.895C>T (p.His299Tyr) c.898C>T (p.His300Tyr) c.94C>T (p.His32Tyr) c.475C>T (n.475C>T) | |
| 2 | g.233767068A= | CA1335894709 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.890A= (p.His297=) c.902A= (p.His301=) c.896A= (p.His299=) c.899A= (p.His300=) c.95A= (p.His32=) c.476A= (n.476A=) | |
| 2 | g.233767068A>C | CA351071790 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.890A>C (p.His297Pro) c.902A>C (p.His301Pro) c.896A>C (p.His299Pro) c.899A>C (p.His300Pro) c.95A>C (p.His32Pro) c.476A>C (n.476A>C) | |
| 2 | g.233767068A>G | CA67595091 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.890A>G (p.His297Arg) c.902A>G (p.His301Arg) c.896A>G (p.His299Arg) c.899A>G (p.His300Arg) c.95A>G (p.His32Arg) c.476A>G (n.476A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767068A>T | CA351071793 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.890A>T (p.His297Leu) c.902A>T (p.His301Leu) c.896A>T (p.His299Leu) c.899A>T (p.His300Leu) c.95A>T (p.His32Leu) c.476A>T (n.476A>T) | |
| 2 | g.233767069T>A | CA351071797 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.891T>A (p.His297Gln) c.903T>A (p.His301Gln) c.897T>A (p.His299Gln) c.900T>A (p.His300Gln) c.96T>A (p.His32Gln) c.477T>A (n.477T>A) | |
| 2 | g.233767069T>C | CA2179923 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.891T>C (p.His297=) c.903T>C (p.His301=) c.897T>C (p.His299=) c.900T>C (p.His300=) c.96T>C (p.His32=) c.477T>C (n.477T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767069T>G | CA351071796 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.891T>G (p.His297Gln) c.903T>G (p.His301Gln) c.897T>G (p.His299Gln) c.900T>G (p.His300Gln) c.96T>G (p.His32Gln) c.477T>G (n.477T>G) | |
| 2 | g.233767069T= | CA1335894710 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.891T= (p.His297=) c.903T= (p.His301=) c.897T= (p.His299=) c.900T= (p.His300=) c.96T= (p.His32=) c.477T= (n.477T=) | |
| 2 | g.233767070G>A | CA351071802 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.892G>A (p.Gly298Arg) c.904G>A (p.Gly302Arg) c.898G>A (p.Gly300Arg) c.901G>A (p.Gly301Arg) c.97G>A (p.Gly33Arg) c.478G>A (n.478G>A) | |
| 2 | g.233767070G>C | CA351071798 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.892G>C (p.Gly298Arg) c.904G>C (p.Gly302Arg) c.898G>C (p.Gly300Arg) c.901G>C (p.Gly301Arg) c.97G>C (p.Gly33Arg) c.478G>C (n.478G>C) | |
| 2 | g.233767070G>T | CA351071799 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.892G>T (p.Gly298Ter) c.904G>T (p.Gly302Ter) c.898G>T (p.Gly300Ter) c.901G>T (p.Gly301Ter) c.97G>T (p.Gly33Ter) c.478G>T (n.478G>T) | |
| 2 | g.233767071G>A | CA351071809 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.893G>A (p.Gly298Glu) c.905G>A (p.Gly302Glu) c.899G>A (p.Gly300Glu) c.902G>A (p.Gly301Glu) c.98G>A (p.Gly33Glu) c.479G>A (n.479G>A) | dbSNP gnomAD v4 |
| 2 | g.233767071G>C | CA351071810 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.893G>C (p.Gly298Ala) c.905G>C (p.Gly302Ala) c.899G>C (p.Gly300Ala) c.902G>C (p.Gly301Ala) c.98G>C (p.Gly33Ala) c.479G>C (n.479G>C) | gnomAD v4 |
| 2 | g.233767071G= | CA1335894711 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.893G= (p.Gly298=) c.905G= (p.Gly302=) c.899G= (p.Gly300=) c.902G= (p.Gly301=) c.98G= (p.Gly33=) c.479G= (n.479G=) | |
| 2 | g.233767071G>T | CA351071813 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.893G>T (p.Gly298Val) c.905G>T (p.Gly302Val) c.899G>T (p.Gly300Val) c.902G>T (p.Gly301Val) c.98G>T (p.Gly33Val) c.479G>T (n.479G>T) | gnomAD v4 |
| 2 | g.233767072A>C | CA431855524 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.894A>C (p.Gly298=) c.906A>C (p.Gly302=) c.900A>C (p.Gly300=) c.903A>C (p.Gly301=) c.99A>C (p.Gly33=) c.480A>C (n.480A>C) | |
| 2 | g.233767072A>G | CA431855522 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.894A>G (p.Gly298=) c.906A>G (p.Gly302=) c.900A>G (p.Gly300=) c.903A>G (p.Gly301=) c.99A>G (p.Gly33=) c.480A>G (n.480A>G) | |
| 2 | g.233767072A>T | CA431855520 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.894A>T (p.Gly298=) c.906A>T (p.Gly302=) c.900A>T (p.Gly300=) c.903A>T (p.Gly301=) c.99A>T (p.Gly33=) c.480A>T (n.480A>T) | |
| 2 | g.233767073A= | CA1335894712 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.895A= (p.Ile299=) c.907A= (p.Ile303=) c.901A= (p.Ile301=) c.904A= (p.Ile302=) c.100A= (p.Ile34=) c.481A= (n.481A=) | |
| 2 | g.233767073A>C | CA351071817 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.895A>C (p.Ile299Leu) c.907A>C (p.Ile303Leu) c.901A>C (p.Ile301Leu) c.904A>C (p.Ile302Leu) c.100A>C (p.Ile34Leu) c.481A>C (n.481A>C) | |
| 2 | g.233767073A>G | CA351071819 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.895A>G (p.Ile299Val) c.907A>G (p.Ile303Val) c.901A>G (p.Ile301Val) c.904A>G (p.Ile302Val) c.100A>G (p.Ile34Val) c.481A>G (n.481A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.233767073A>T | CA351071825 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.895A>T (p.Ile299Phe) c.907A>T (p.Ile303Phe) c.901A>T (p.Ile301Phe) c.904A>T (p.Ile302Phe) c.100A>T (p.Ile34Phe) c.481A>T (n.481A>T) | |
| 2 | g.233767074T>A | CA351071828 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.896T>A (p.Ile299Asn) c.908T>A (p.Ile303Asn) c.902T>A (p.Ile301Asn) c.905T>A (p.Ile302Asn) c.101T>A (p.Ile34Asn) c.482T>A (n.482T>A) | |
| 2 | g.233767074T>C | CA2179924 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.896T>C (p.Ile299Thr) c.908T>C (p.Ile303Thr) c.902T>C (p.Ile301Thr) c.905T>C (p.Ile302Thr) c.101T>C (p.Ile34Thr) c.482T>C (n.482T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767074T>G | CA351071835 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.896T>G (p.Ile299Ser) c.908T>G (p.Ile303Ser) c.902T>G (p.Ile301Ser) c.905T>G (p.Ile302Ser) c.101T>G (p.Ile34Ser) c.482T>G (n.482T>G) | |
| 2 | g.233767074T= | CA1335894713 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.896T= (p.Ile299=) c.908T= (p.Ile303=) c.902T= (p.Ile301=) c.905T= (p.Ile302=) c.101T= (p.Ile34=) c.482T= (n.482T=) | |
| 2 | g.233767075T>A | CA431855543 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.897T>A (p.Ile299=) c.909T>A (p.Ile303=) c.903T>A (p.Ile301=) c.906T>A (p.Ile302=) c.102T>A (p.Ile34=) c.483T>A (n.483T>A) | |
| 2 | g.233767075T>C | CA431855542 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.897T>C (p.Ile299=) c.909T>C (p.Ile303=) c.903T>C (p.Ile301=) c.906T>C (p.Ile302=) c.102T>C (p.Ile34=) c.483T>C (n.483T>C) | |
| 2 | g.233767075T>G | CA351071839 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.897T>G (p.Ile299Met) c.909T>G (p.Ile303Met) c.903T>G (p.Ile301Met) c.906T>G (p.Ile302Met) c.102T>G (p.Ile34Met) c.483T>G (n.483T>G) | |
| 2 | g.233767076G>A | CA2179925 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.898G>A (p.Val300Met) c.910G>A (p.Val304Met) c.904G>A (p.Val302Met) c.907G>A (p.Val303Met) c.103G>A (p.Val35Met) c.484G>A (n.484G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767076G>C | CA351071844 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.898G>C (p.Val300Leu) c.910G>C (p.Val304Leu) c.904G>C (p.Val302Leu) c.907G>C (p.Val303Leu) c.103G>C (p.Val35Leu) c.484G>C (n.484G>C) | |
| 2 | g.233767076G= | CA1335894714 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.898G= (p.Val300=) c.910G= (p.Val304=) c.904G= (p.Val302=) c.907G= (p.Val303=) c.103G= (p.Val35=) c.484G= (n.484G=) | |
| 2 | g.233767076G>T | CA351071846 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.898G>T (p.Val300Leu) c.910G>T (p.Val304Leu) c.904G>T (p.Val302Leu) c.907G>T (p.Val303Leu) c.103G>T (p.Val35Leu) c.484G>T (n.484G>T) | |
| 2 | g.233767077T>A | CA351071850 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.899T>A (p.Val300Glu) c.911T>A (p.Val304Glu) c.905T>A (p.Val302Glu) c.908T>A (p.Val303Glu) c.104T>A (p.Val35Glu) c.485T>A (n.485T>A) | |
| 2 | g.233767077T>C | CA351071848 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.899T>C (p.Val300Ala) c.911T>C (p.Val304Ala) c.905T>C (p.Val302Ala) c.908T>C (p.Val303Ala) c.104T>C (p.Val35Ala) c.485T>C (n.485T>C) | |
| 2 | g.233767077T>G | CA351071849 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.899T>G (p.Val300Gly) c.911T>G (p.Val304Gly) c.905T>G (p.Val302Gly) c.908T>G (p.Val303Gly) c.104T>G (p.Val35Gly) c.485T>G (n.485T>G) | |
| 2 | g.233767078G>A | CA431855565 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.900G>A (p.Val300=) c.912G>A (p.Val304=) c.906G>A (p.Val302=) c.909G>A (p.Val303=) c.105G>A (p.Val35=) c.486G>A (n.486G>A) | |
| 2 | g.233767078G>C | CA431855588 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.900G>C (p.Val300=) c.912G>C (p.Val304=) c.906G>C (p.Val302=) c.909G>C (p.Val303=) c.105G>C (p.Val35=) c.486G>C (n.486G>C) | |
| 2 | g.233767078G>T | CA431855584 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.900G>T (p.Val300=) c.912G>T (p.Val304=) c.906G>T (p.Val302=) c.909G>T (p.Val303=) c.105G>T (p.Val35=) c.486G>T (n.486G>T) | |
| 2 | g.233767079G>A | CA351071851 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.901G>A (p.Val301Ile) c.913G>A (p.Val305Ile) c.907G>A (p.Val303Ile) c.910G>A (p.Val304Ile) c.106G>A (p.Val36Ile) c.487G>A (n.487G>A) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 2 | g.233767079G>C | CA351071853 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.901G>C (p.Val301Leu) c.913G>C (p.Val305Leu) c.907G>C (p.Val303Leu) c.910G>C (p.Val304Leu) c.106G>C (p.Val36Leu) c.487G>C (n.487G>C) | dbSNP |
| 2 | g.233767079G= | CA1335894715 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.901G= (p.Val301=) c.913G= (p.Val305=) c.907G= (p.Val303=) c.910G= (p.Val304=) c.106G= (p.Val36=) c.487G= (n.487G=) | |
| 2 | g.233767079G>T | CA351071856 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.901G>T (p.Val301Phe) c.913G>T (p.Val305Phe) c.907G>T (p.Val303Phe) c.910G>T (p.Val304Phe) c.106G>T (p.Val36Phe) c.487G>T (n.487G>T) | |
| 2 | g.233767080T>A | CA351071860 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.902T>A (p.Val301Asp) c.914T>A (p.Val305Asp) c.908T>A (p.Val303Asp) c.911T>A (p.Val304Asp) c.107T>A (p.Val36Asp) c.488T>A (n.488T>A) | |
| 2 | g.233767080T>C | CA2179926 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.902T>C (p.Val301Ala) c.914T>C (p.Val305Ala) c.908T>C (p.Val303Ala) c.911T>C (p.Val304Ala) c.107T>C (p.Val36Ala) c.488T>C (n.488T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.233767080T>G | CA351071863 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.902T>G (p.Val301Gly) c.914T>G (p.Val305Gly) c.908T>G (p.Val303Gly) c.911T>G (p.Val304Gly) c.107T>G (p.Val36Gly) c.488T>G (n.488T>G) | |
| 2 | g.233767080T= | CA1335894716 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.902T= (p.Val301=) c.914T= (p.Val305=) c.908T= (p.Val303=) c.911T= (p.Val304=) c.107T= (p.Val36=) c.488T= (n.488T=) |