WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.62996135A= | CA1978013277 | SLC22A8 | c.779T= (p.Ile260=) c.410T= (p.Ile137=) n.597T= n.500T= n.619T= c.506T= (p.Ile169=) | |
| 11 | g.62996135A>C | CA223623936 | SLC22A8 | c.779T>G (p.Ile260Arg) c.410T>G (p.Ile137Arg) n.597T>G n.500T>G n.619T>G c.506T>G (p.Ile169Arg) | dbSNP |
| 11 | g.62996135A>G | CA380982790 | SLC22A8 | c.779T>C (p.Ile260Thr) c.410T>C (p.Ile137Thr) n.597T>C n.500T>C n.619T>C c.506T>C (p.Ile169Thr) | gnomAD v4 |
| 11 | g.62996135A>T | CA380982792 | SLC22A8 | c.779T>A (p.Ile260Lys) c.410T>A (p.Ile137Lys) n.597T>A n.500T>A n.619T>A c.506T>A (p.Ile169Lys) | |
| 11 | g.62996136T>A | CA380982793 | SLC22A8 | c.778A>T (p.Ile260Leu) c.409A>T (p.Ile137Leu) n.596A>T n.499A>T n.618A>T c.505A>T (p.Ile169Leu) | |
| 11 | g.62996136T>C | CA380982795 | SLC22A8 | c.778A>G (p.Ile260Val) c.409A>G (p.Ile137Val) n.596A>G n.499A>G n.618A>G c.505A>G (p.Ile169Val) | |
| 11 | g.62996136T>G | CA380982796 | SLC22A8 | c.778A>C (p.Ile260Leu) c.409A>C (p.Ile137Leu) n.596A>C n.499A>C n.618A>C c.505A>C (p.Ile169Leu) | |
| 11 | g.62996137G>A | CA475140891 | SLC22A8 | c.777C>T (p.Ser259=) c.408C>T (p.Ser136=) n.595C>T n.498C>T n.617C>T c.504C>T (p.Ser168=) | |
| 11 | g.62996137G>C | CA475140893 | SLC22A8 | c.777C>G (p.Ser259=) c.408C>G (p.Ser136=) n.595C>G n.498C>G n.617C>G c.504C>G (p.Ser168=) | |
| 11 | g.62996137G>T | CA475140892 | SLC22A8 | c.777C>A (p.Ser259=) c.408C>A (p.Ser136=) n.595C>A n.498C>A n.617C>A c.504C>A (p.Ser168=) | |
| 11 | g.62996138G>A | CA380982801 | SLC22A8 | c.776C>T (p.Ser259Phe) c.407C>T (p.Ser136Phe) n.594C>T n.497C>T n.616C>T c.503C>T (p.Ser168Phe) | COSMIC |
| 11 | g.62996138G>C | CA380982798 | SLC22A8 | c.776C>G (p.Ser259Cys) c.407C>G (p.Ser136Cys) n.594C>G n.497C>G n.616C>G c.503C>G (p.Ser168Cys) | |
| 11 | g.62996138G>T | CA380982800 | SLC22A8 | c.776C>A (p.Ser259Tyr) c.407C>A (p.Ser136Tyr) n.594C>A n.497C>A n.616C>A c.503C>A (p.Ser168Tyr) | |
| 11 | g.62996139A= | CA1978013279 | SLC22A8 | c.775T= (p.Ser259=) c.406T= (p.Ser136=) n.593T= n.496T= n.615T= c.502T= (p.Ser168=) | |
| 11 | g.62996139A>C | CA380982802 | SLC22A8 | c.775T>G (p.Ser259Ala) c.406T>G (p.Ser136Ala) n.593T>G n.496T>G n.615T>G c.502T>G (p.Ser168Ala) | dbSNP |
| 11 | g.62996139A>G | CA380982803 | SLC22A8 | c.775T>C (p.Ser259Pro) c.406T>C (p.Ser136Pro) n.593T>C n.496T>C n.615T>C c.502T>C (p.Ser168Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.62996139A>T | CA380982804 | SLC22A8 | c.775T>A (p.Ser259Thr) c.406T>A (p.Ser136Thr) n.593T>A n.496T>A n.615T>A c.502T>A (p.Ser168Thr) | |
| 11 | g.62996140C>A | CA380982805 | SLC22A8 | c.774G>T (p.Glu258Asp) c.405G>T (p.Glu135Asp) n.592G>T n.495G>T n.614G>T c.501G>T (p.Glu167Asp) | |
| 11 | g.62996140C>G | CA380982806 | SLC22A8 | c.774G>C (p.Glu258Asp) c.405G>C (p.Glu135Asp) n.592G>C n.495G>C n.614G>C c.501G>C (p.Glu167Asp) | |
| 11 | g.62996140C>T | CA475140895 | SLC22A8 | c.774G>A (p.Glu258=) c.405G>A (p.Glu135=) n.592G>A n.495G>A n.614G>A c.501G>A (p.Glu167=) | |
| 11 | g.62996141T>A | CA380982808 | SLC22A8 | c.773A>T (p.Glu258Val) c.404A>T (p.Glu135Val) n.591A>T n.494A>T n.613A>T c.500A>T (p.Glu167Val) | |
| 11 | g.62996141T>C | CA380982810 | SLC22A8 | c.773A>G (p.Glu258Gly) c.404A>G (p.Glu135Gly) n.591A>G n.494A>G n.613A>G c.500A>G (p.Glu167Gly) | |
| 11 | g.62996141T>G | CA380982811 | SLC22A8 | c.773A>C (p.Glu258Ala) c.404A>C (p.Glu135Ala) n.591A>C n.494A>C n.613A>C c.500A>C (p.Glu167Ala) | |
| 11 | g.62996142C>A | CA380982812 | SLC22A8 | c.772G>T (p.Glu258Ter) c.403G>T (p.Glu135Ter) n.590G>T n.493G>T n.612G>T c.499G>T (p.Glu167Ter) | COSMIC |
| 11 | g.62996142C>G | CA380982814 | SLC22A8 | c.772G>C (p.Glu258Gln) c.403G>C (p.Glu135Gln) n.590G>C n.493G>C n.612G>C c.499G>C (p.Glu167Gln) | |
| 11 | g.62996142C>T | CA380982817 | SLC22A8 | c.772G>A (p.Glu258Lys) c.403G>A (p.Glu135Lys) n.590G>A n.493G>A n.612G>A c.499G>A (p.Glu167Lys) | |
| 11 | g.62996143T>A | CA475140896 | SLC22A8 | c.771A>T (p.Pro257=) c.402A>T (p.Pro134=) n.589A>T n.492A>T n.611A>T c.498A>T (p.Pro166=) | |
| 11 | g.62996143T>C | CA475140897 | SLC22A8 | c.771A>G (p.Pro257=) c.402A>G (p.Pro134=) n.589A>G n.492A>G n.611A>G c.498A>G (p.Pro166=) | |
| 11 | g.62996143T>G | CA475140898 | SLC22A8 | c.771A>C (p.Pro257=) c.402A>C (p.Pro134=) n.589A>C n.492A>C n.611A>C c.498A>C (p.Pro166=) | |
| 11 | g.62996144G>A | CA380982823 | SLC22A8 | c.770C>T (p.Pro257Leu) c.401C>T (p.Pro134Leu) n.588C>T n.491C>T n.610C>T c.497C>T (p.Pro166Leu) | |
| 11 | g.62996144G>C | CA380982821 | SLC22A8 | c.770C>G (p.Pro257Arg) c.401C>G (p.Pro134Arg) n.588C>G n.491C>G n.610C>G c.497C>G (p.Pro166Arg) | |
| 11 | g.62996144G>T | CA380982819 | SLC22A8 | c.770C>A (p.Pro257Gln) c.401C>A (p.Pro134Gln) n.588C>A n.491C>A n.610C>A c.497C>A (p.Pro166Gln) | |
| 11 | g.62996145G>A | CA380982825 | SLC22A8 | c.769C>T (p.Pro257Ser) c.400C>T (p.Pro134Ser) n.587C>T n.490C>T n.609C>T c.496C>T (p.Pro166Ser) | dbSNP gnomAD v2 |
| 11 | g.62996145G>C | CA380982829 | SLC22A8 | c.769C>G (p.Pro257Ala) c.400C>G (p.Pro134Ala) n.587C>G n.490C>G n.609C>G c.496C>G (p.Pro166Ala) | |
| 11 | g.62996145G= | CA1978013280 | SLC22A8 | c.769C= (p.Pro257=) c.400C= (p.Pro134=) n.587C= n.490C= n.609C= c.496C= (p.Pro166=) | |
| 11 | g.62996145G>T | CA380982826 | SLC22A8 | c.769C>A (p.Pro257Thr) c.400C>A (p.Pro134Thr) n.587C>A n.490C>A n.609C>A c.496C>A (p.Pro166Thr) | |
| 11 | g.62996146T>A | CA475140902 | SLC22A8 | c.768A>T (p.Thr256=) c.399A>T (p.Thr133=) n.586A>T n.489A>T n.608A>T c.495A>T (p.Thr165=) | gnomAD v4 |
| 11 | g.62996146T>C | CA475140903 | SLC22A8 | c.768A>G (p.Thr256=) c.399A>G (p.Thr133=) n.586A>G n.489A>G n.608A>G c.495A>G (p.Thr165=) | |
| 11 | g.62996146T>G | CA475140904 | SLC22A8 | c.768A>C (p.Thr256=) c.399A>C (p.Thr133=) n.586A>C n.489A>C n.608A>C c.495A>C (p.Thr165=) | |
| 11 | g.62996147G>A | CA380982831 | SLC22A8 | c.767C>T (p.Thr256Ile) c.398C>T (p.Thr133Ile) n.585C>T n.488C>T n.607C>T c.494C>T (p.Thr165Ile) | gnomAD v4 |
| 11 | g.62996147G>C | CA380982837 | SLC22A8 | c.767C>G (p.Thr256Arg) c.398C>G (p.Thr133Arg) n.585C>G n.488C>G n.607C>G c.494C>G (p.Thr165Arg) | |
| 11 | g.62996147G>T | CA380982834 | SLC22A8 | c.767C>A (p.Thr256Lys) c.398C>A (p.Thr133Lys) n.585C>A n.488C>A n.607C>A c.494C>A (p.Thr165Lys) | |
| 11 | g.62996148T>A | CA380982838 | SLC22A8 | c.766A>T (p.Thr256Ser) c.397A>T (p.Thr133Ser) n.584A>T n.487A>T n.606A>T c.493A>T (p.Thr165Ser) | |
| 11 | g.62996148T>C | CA380982842 | SLC22A8 | c.766A>G (p.Thr256Ala) c.397A>G (p.Thr133Ala) n.584A>G n.487A>G n.606A>G c.493A>G (p.Thr165Ala) | |
| 11 | g.62996148T>G | CA380982840 | SLC22A8 | c.766A>C (p.Thr256Pro) c.397A>C (p.Thr133Pro) n.584A>C n.487A>C n.606A>C c.493A>C (p.Thr165Pro) | |
| 11 | g.62996149C>A | CA380982845 | SLC22A8 | c.765G>T (p.Trp255Cys) c.396G>T (p.Trp132Cys) n.583G>T n.486G>T n.605G>T c.492G>T (p.Trp164Cys) | |
| 11 | g.62996149C= | CA1978013282 | SLC22A8 | c.765G= (p.Trp255=) c.396G= (p.Trp132=) n.583G= n.486G= n.605G= c.492G= (p.Trp164=) | |
| 11 | g.62996149C>G | CA380982847 | SLC22A8 | c.765G>C (p.Trp255Cys) c.396G>C (p.Trp132Cys) n.583G>C n.486G>C n.605G>C c.492G>C (p.Trp164Cys) | |
| 11 | g.62996149C>T | CA223623938 | SLC22A8 | c.765G>A (p.Trp255Ter) c.396G>A (p.Trp132Ter) n.583G>A n.486G>A n.605G>A c.492G>A (p.Trp164Ter) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.62996150C>A | CA380982852 | SLC22A8 | c.764G>T (p.Trp255Leu) c.395G>T (p.Trp132Leu) n.582G>T n.485G>T n.604G>T c.491G>T (p.Trp164Leu) |