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 |
|---|---|---|---|---|---|
| 17 | g.49619069C>A | CA400156699 | SPOP | c.392G>T (p.Trp131Leu) c.*241G>T (n.*241G>T) c.*335G>T (n.*335G>T) c.111G>T | |
| 17 | g.49619069C= | CA2263656165 | SPOP | c.392G= (p.Trp131=) c.*241G= (n.*241G=) c.*335G= (n.*335G=) c.111G= | |
| 17 | g.49619069C>G | CA16602976 | SPOP | c.392G>C (p.Trp131Ser) c.*241G>C (n.*241G>C) c.*335G>C (n.*335G>C) c.111G>C | ClinVar dbSNP COSMIC |
| 17 | g.49619069C>T | CA400156700 | SPOP | c.392G>A (p.Trp131Ter) c.*241G>A (n.*241G>A) c.*335G>A (n.*335G>A) c.111G>A | |
| 17 | g.49619070A= | CA2263656166 | SPOP | c.391T= (p.Trp131=) c.*240T= (n.*240T=) c.*334T= (n.*334T=) c.110T= | |
| 17 | g.49619070A>C | CA16602975 | SPOP | c.391T>G (p.Trp131Gly) c.*240T>G (n.*240T>G) c.*334T>G (n.*334T>G) c.110T>G | ClinVar dbSNP COSMIC |
| 17 | g.49619070A>G | CA400156701 | SPOP | c.391T>C (p.Trp131Arg) c.*240T>C (n.*240T>C) c.*334T>C (n.*334T>C) c.110T>C | dbSNP COSMIC |
| 17 | g.49619070A>T | CA16602977 | SPOP | c.391T>A (p.Trp131Arg) c.*240T>A (n.*240T>A) c.*334T>A (n.*334T>A) c.110T>A | ClinVar dbSNP |
| 17 | g.49619071G>A | CA500806649 | SPOP | c.390C>T (p.Asp130=) c.*239C>T (n.*239C>T) c.*333C>T (n.*333C>T) c.109C>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.49619071G>C | CA400156702 | SPOP | c.390C>G (p.Asp130Glu) c.*239C>G (n.*239C>G) c.*333C>G (n.*333C>G) c.109C>G | |
| 17 | g.49619071G= | CA2263656167 | SPOP | c.390C= (p.Asp130=) c.*239C= (n.*239C=) c.*333C= (n.*333C=) c.109C= | |
| 17 | g.49619071G>T | CA400156703 | SPOP | c.390C>A (p.Asp130Glu) c.*239C>A (n.*239C>A) c.*333C>A (n.*333C>A) c.109C>A | dbSNP |
| 17 | g.49619072T>A | CA400156704 | SPOP | c.389A>T (p.Asp130Val) c.*238A>T (n.*238A>T) c.*332A>T (n.*332A>T) c.108A>T | dbSNP |
| 17 | g.49619072T>C | CA400156705 | SPOP | c.389A>G (p.Asp130Gly) c.*238A>G (n.*238A>G) c.*332A>G (n.*332A>G) c.108A>G | dbSNP |
| 17 | g.49619072T>G | CA400156706 | SPOP | c.389A>C (p.Asp130Ala) c.*238A>C (n.*238A>C) c.*332A>C (n.*332A>C) c.108A>C | dbSNP |
| 17 | g.49619073C>A | CA400156707 | SPOP | c.388G>T (p.Asp130Tyr) c.*237G>T (n.*237G>T) c.*331G>T (n.*331G>T) c.107G>T | ClinVar dbSNP |
| 17 | g.49619073C= | CA2263656168 | SPOP | c.388G= (p.Asp130=) c.*237G= (n.*237G=) c.*331G= (n.*331G=) c.107G= | |
| 17 | g.49619073C>G | CA400156708 | SPOP | c.388G>C (p.Asp130His) c.*237G>C (n.*237G>C) c.*331G>C (n.*331G>C) c.107G>C | dbSNP COSMIC |
| 17 | g.49619073C>T | CA400156709 | SPOP | c.388G>A (p.Asp130Asn) c.*237G>A (n.*237G>A) c.*331G>A (n.*331G>A) c.107G>A | ClinVar dbSNP COSMIC |
| 17 | g.49619074T>A | CA400156711 | SPOP | c.387A>T (p.Lys129Asn) c.*236A>T (n.*236A>T) c.*330A>T (n.*330A>T) c.106A>T | |
| 17 | g.49619074T>C | CA500806660 | SPOP | c.387A>G (p.Lys129=) c.*236A>G (n.*236A>G) c.*330A>G (n.*330A>G) c.106A>G | |
| 17 | g.49619074T>G | CA400156710 | SPOP | c.387A>C (p.Lys129Asn) c.*236A>C (n.*236A>C) c.*330A>C (n.*330A>C) c.106A>C | |
| 17 | g.49619075T>A | CA400156712 | SPOP | c.386A>T (p.Lys129Ile) c.*235A>T (n.*235A>T) c.*329A>T (n.*329A>T) c.105A>T | dbSNP |
| 17 | g.49619075T>C | CA400156713 | SPOP | c.386A>G (p.Lys129Arg) c.*235A>G (n.*235A>G) c.*329A>G (n.*329A>G) c.105A>G | dbSNP |
| 17 | g.49619075T>G | CA400156714 | SPOP | c.386A>C (p.Lys129Thr) c.*235A>C (n.*235A>C) c.*329A>C (n.*329A>C) c.105A>C | ClinVar dbSNP |
| 17 | g.49619075T= | CA2263656169 | SPOP | c.386A= (p.Lys129=) c.*235A= (n.*235A=) c.*329A= (n.*329A=) c.105A= | |
| 17 | g.49619076T>A | CA400156715 | SPOP | c.385A>T (p.Lys129Ter) c.*234A>T (n.*234A>T) c.*328A>T (n.*328A>T) c.104A>T | dbSNP |
| 17 | g.49619076T>C | CA400156716 | SPOP | c.385A>G (p.Lys129Glu) c.*234A>G (n.*234A>G) c.*328A>G (n.*328A>G) c.104A>G | dbSNP COSMIC |
| 17 | g.49619076T>G | CA400156717 | SPOP | c.385A>C (p.Lys129Gln) c.*234A>C (n.*234A>C) c.*328A>C (n.*328A>C) c.104A>C | |
| 17 | g.49619076_49619077delinsTG | CA2263656170 | SPOP | c.384_385delinsCA (p.Gly128=) c.*233_*234delinsCA (n.*233_*234delinsCA) c.*327_*328delinsCA (n.*327_*328delinsCA) c.103_104delinsCA | |
| 17 | g.49619077del | CA916083568 | SPOP | c.384del (p.Asp130ThrfsTer?) c.*233del (n.*233del) c.*327del (n.*327del) c.103del | ClinVar dbSNP |
| 17 | g.49619077G>A | CA500806669 | SPOP | c.384C>T (p.Gly128=) c.*233C>T (n.*233C>T) c.*327C>T (n.*327C>T) c.103C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.49619077G>C | CA500806671 | SPOP | c.384C>G (p.Gly128=) c.*233C>G (n.*233C>G) c.*327C>G (n.*327C>G) c.103C>G | ClinVar dbSNP gnomAD v4 |
| 17 | g.49619077G= | CA2263656171 | SPOP | c.384C= (p.Gly128=) c.*233C= (n.*233C=) c.*327C= (n.*327C=) c.103C= | |
| 17 | g.49619077G>T | CA500806673 | SPOP | c.384C>A (p.Gly128=) c.*233C>A (n.*233C>A) c.*327C>A (n.*327C>A) c.103C>A | ClinVar dbSNP |
| 17 | g.49619078C>A | CA400156720 | SPOP | c.383G>T (p.Gly128Val) c.*232G>T (n.*232G>T) c.*326G>T (n.*326G>T) c.102G>T | dbSNP |
| 17 | g.49619078C= | CA2263656172 | SPOP | c.383G= (p.Gly128=) c.*232G= (n.*232G=) c.*326G= (n.*326G=) c.102G= | |
| 17 | g.49619078C>G | CA400156718 | SPOP | c.383G>C (p.Gly128Ala) c.*232G>C (n.*232G>C) c.*326G>C (n.*326G>C) c.102G>C | dbSNP |
| 17 | g.49619078C>T | CA400156719 | SPOP | c.383G>A (p.Gly128Asp) c.*232G>A (n.*232G>A) c.*326G>A (n.*326G>A) c.102G>A | dbSNP |
| 17 | g.49619079C>A | CA400156721 | SPOP | c.382G>T (p.Gly128Cys) c.*231G>T (n.*231G>T) c.*325G>T (n.*325G>T) c.101G>T | |
| 17 | g.49619079C>G | CA400156722 | SPOP | c.382G>C (p.Gly128Arg) c.*231G>C (n.*231G>C) c.*325G>C (n.*325G>C) c.101G>C | |
| 17 | g.49619079C>T | CA400156723 | SPOP | c.382G>A (p.Gly128Ser) c.*231G>A (n.*231G>A) c.*325G>A (n.*325G>A) c.101G>A | |
| 17 | g.49619080T>A | CA400156724 | SPOP | c.381A>T (p.Gln127His) c.*230A>T (n.*230A>T) c.*324A>T (n.*324A>T) c.100A>T | dbSNP |
| 17 | g.49619080T>C | CA500806683 | SPOP | c.381A>G (p.Gln127=) c.*230A>G (n.*230A>G) c.*324A>G (n.*324A>G) c.100A>G | ClinVar dbSNP |
| 17 | g.49619080T>G | CA400156725 | SPOP | c.381A>C (p.Gln127His) c.*230A>C (n.*230A>C) c.*324A>C (n.*324A>C) c.100A>C | |
| 17 | g.49619080T= | CA2263656173 | SPOP | c.381A= (p.Gln127=) c.*230A= (n.*230A=) c.*324A= (n.*324A=) c.100A= | |
| 17 | g.49619081T>A | CA400156728 | SPOP | c.380A>T (p.Gln127Leu) c.*229A>T (n.*229A>T) c.*323A>T (n.*323A>T) c.99A>T | dbSNP |
| 17 | g.49619081T>C | CA400156726 | SPOP | c.380A>G (p.Gln127Arg) c.*229A>G (n.*229A>G) c.*323A>G (n.*323A>G) c.99A>G | dbSNP |
| 17 | g.49619081T>G | CA400156727 | SPOP | c.380A>C (p.Gln127Pro) c.*229A>C (n.*229A>C) c.*323A>C (n.*323A>C) c.99A>C | |
| 17 | g.49619082G>A | CA400156729 | SPOP | c.379C>T (p.Gln127Ter) c.*228C>T (n.*228C>T) c.*322C>T (n.*322C>T) c.98C>T | dbSNP |