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 |
|---|---|---|---|---|---|
| 20 | g.46725379_46725868delinsC | CA2697547414 | SLC2A10 | c.343_832delinsC (p.Ser115_Ala278delinsPro) c.406_895delinsC (p.Ser136_Ala299delinsPro) c.352_841delinsC (p.Ser118_Ala281delinsPro) n.542_1031delinsC n.529_1018delinsC | ClinVar |
| 20 | g.46725440T>A | CA409266945 | SLC2A10 | c.404T>A (p.Leu135Gln) n.556T>A c.467T>A (p.Leu156Gln) c.413T>A (p.Leu138Gln) n.603T>A n.590T>A | |
| 20 | g.46725440T>C | CA409266944 | SLC2A10 | c.404T>C (p.Leu135Pro) n.556T>C c.467T>C (p.Leu156Pro) c.413T>C (p.Leu138Pro) n.603T>C n.590T>C | |
| 20 | g.46725440T>G | CA409266943 | SLC2A10 | c.404T>G (p.Leu135Arg) n.556T>G c.467T>G (p.Leu156Arg) c.413T>G (p.Leu138Arg) n.603T>G n.590T>G | |
| 20 | g.46725441G>A | CA510847614 | SLC2A10 | c.405G>A (p.Leu135=) n.557G>A c.468G>A (p.Leu156=) c.414G>A (p.Leu138=) n.604G>A n.591G>A | gnomAD v4 |
| 20 | g.46725441G>C | CA510847616 | SLC2A10 | c.405G>C (p.Leu135=) n.557G>C c.468G>C (p.Leu156=) c.414G>C (p.Leu138=) n.604G>C n.591G>C | |
| 20 | g.46725441G>T | CA510847615 | SLC2A10 | c.405G>T (p.Leu135=) n.557G>T c.468G>T (p.Leu156=) c.414G>T (p.Leu138=) n.604G>T n.591G>T | dbSNP |
| 20 | g.46725442G>A | CA409266946 | SLC2A10 | c.406G>A (p.Val136Met) n.558G>A c.469G>A (p.Val157Met) c.415G>A (p.Val139Met) n.605G>A n.592G>A | |
| 20 | g.46725442G>C | CA409266947 | SLC2A10 | c.406G>C (p.Val136Leu) n.558G>C c.469G>C (p.Val157Leu) c.415G>C (p.Val139Leu) n.605G>C n.592G>C | dbSNP |
| 20 | g.46725442G= | CA2366796205 | SLC2A10 | c.406G= (p.Val136=) n.558G= c.469G= (p.Val157=) c.415G= (p.Val139=) n.605G= n.592G= | |
| 20 | g.46725442G>T | CA409266948 | SLC2A10 | c.406G>T (p.Val136Leu) n.558G>T c.469G>T (p.Val157Leu) c.415G>T (p.Val139Leu) n.605G>T n.592G>T | gnomAD v4 |
| 20 | g.46725443T>A | CA409266949 | SLC2A10 | c.407T>A (p.Val136Glu) n.559T>A c.470T>A (p.Val157Glu) c.416T>A (p.Val139Glu) n.606T>A n.593T>A | |
| 20 | g.46725443T>C | CA409266950 | SLC2A10 | c.407T>C (p.Val136Ala) n.559T>C c.470T>C (p.Val157Ala) c.416T>C (p.Val139Ala) n.606T>C n.593T>C | |
| 20 | g.46725443T>G | CA409266951 | SLC2A10 | c.407T>G (p.Val136Gly) n.559T>G c.470T>G (p.Val157Gly) c.416T>G (p.Val139Gly) n.606T>G n.593T>G | |
| 20 | g.46725444G>A | CA510847617 | SLC2A10 | c.408G>A (p.Val136=) n.560G>A c.471G>A (p.Val157=) c.417G>A (p.Val139=) n.607G>A n.594G>A | |
| 20 | g.46725444G>C | CA510847618 | SLC2A10 | c.408G>C (p.Val136=) n.560G>C c.471G>C (p.Val157=) c.417G>C (p.Val139=) n.607G>C n.594G>C | |
| 20 | g.46725444G= | CA2366796206 | SLC2A10 | c.408G= (p.Val136=) n.560G= c.471G= (p.Val157=) c.417G= (p.Val139=) n.607G= n.594G= | |
| 20 | g.46725444G>T | CA510847619 | SLC2A10 | c.408G>T (p.Val136=) n.560G>T c.471G>T (p.Val157=) c.417G>T (p.Val139=) n.607G>T n.594G>T | dbSNP gnomAD v4 |
| 20 | g.46725445T>A | CA409266952 | SLC2A10 | c.409T>A (p.Ser137Thr) n.561T>A c.472T>A (p.Ser158Thr) c.418T>A (p.Ser140Thr) n.608T>A n.595T>A | |
| 20 | g.46725445T>C | CA409266954 | SLC2A10 | c.409T>C (p.Ser137Pro) n.561T>C c.472T>C (p.Ser158Pro) c.418T>C (p.Ser140Pro) n.608T>C n.595T>C | |
| 20 | g.46725445T>G | CA409266953 | SLC2A10 | c.409T>G (p.Ser137Ala) n.561T>G c.472T>G (p.Ser158Ala) c.418T>G (p.Ser140Ala) n.608T>G n.595T>G | gnomAD v4 |
| 20 | g.46725446C>A | CA409266955 | SLC2A10 | c.410C>A (p.Ser137Tyr) n.562C>A c.473C>A (p.Ser158Tyr) c.419C>A (p.Ser140Tyr) n.609C>A n.596C>A | |
| 20 | g.46725446C= | CA2366796207 | SLC2A10 | c.410C= (p.Ser137=) n.562C= c.473C= (p.Ser158=) c.419C= (p.Ser140=) n.609C= n.596C= | |
| 20 | g.46725446C>G | CA409266956 | SLC2A10 | c.410C>G (p.Ser137Cys) n.562C>G c.473C>G (p.Ser158Cys) c.419C>G (p.Ser140Cys) n.609C>G n.596C>G | |
| 20 | g.46725446C>T | CA9891970 | SLC2A10 | c.410C>T (p.Ser137Phe) n.562C>T c.473C>T (p.Ser158Phe) c.419C>T (p.Ser140Phe) n.609C>T n.596C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.46725447C>A | CA510847620 | SLC2A10 | c.411C>A (p.Ser137=) n.563C>A c.474C>A (p.Ser158=) c.420C>A (p.Ser140=) n.610C>A n.597C>A | |
| 20 | g.46725447C= | CA2366796208 | SLC2A10 | c.411C= (p.Ser137=) n.563C= c.474C= (p.Ser158=) c.420C= (p.Ser140=) n.610C= n.597C= | |
| 20 | g.46725447C>G | CA510847621 | SLC2A10 | c.411C>G (p.Ser137=) n.563C>G c.474C>G (p.Ser158=) c.420C>G (p.Ser140=) n.610C>G n.597C>G | |
| 20 | g.46725447C>T | CA510847622 | SLC2A10 | c.411C>T (p.Ser137=) n.563C>T c.474C>T (p.Ser158=) c.420C>T (p.Ser140=) n.610C>T n.597C>T | ClinVar dbSNP |
| 20 | g.46725448C>A | CA409266957 | SLC2A10 | c.412C>A (p.Leu138Ile) n.564C>A c.475C>A (p.Leu159Ile) c.421C>A (p.Leu141Ile) n.611C>A n.598C>A | |
| 20 | g.46725448C= | CA2366796209 | SLC2A10 | c.412C= (p.Leu138=) n.564C= c.475C= (p.Leu159=) c.421C= (p.Leu141=) n.611C= n.598C= | |
| 20 | g.46725448C>G | CA315755587 | SLC2A10 | c.412C>G (p.Leu138Val) n.564C>G c.475C>G (p.Leu159Val) c.421C>G (p.Leu141Val) n.611C>G n.598C>G | dbSNP |
| 20 | g.46725448C>T | CA409266958 | SLC2A10 | c.412C>T (p.Leu138Phe) n.564C>T c.475C>T (p.Leu159Phe) c.421C>T (p.Leu141Phe) n.611C>T n.598C>T | |
| 20 | g.46725449T>A | CA409266959 | SLC2A10 | c.413T>A (p.Leu138His) n.565T>A c.476T>A (p.Leu159His) c.422T>A (p.Leu141His) n.612T>A n.599T>A | |
| 20 | g.46725449T>C | CA409266960 | SLC2A10 | c.413T>C (p.Leu138Pro) n.565T>C c.476T>C (p.Leu159Pro) c.422T>C (p.Leu141Pro) n.612T>C n.599T>C | gnomAD v4 |
| 20 | g.46725449T>G | CA409266961 | SLC2A10 | c.413T>G (p.Leu138Arg) n.565T>G c.476T>G (p.Leu159Arg) c.422T>G (p.Leu141Arg) n.612T>G n.599T>G | |
| 20 | g.46725450C>A | CA510847624 | SLC2A10 | c.414C>A (p.Leu138=) n.566C>A c.477C>A (p.Leu159=) c.423C>A (p.Leu141=) n.613C>A n.600C>A | |
| 20 | g.46725450C>G | CA510847625 | SLC2A10 | c.414C>G (p.Leu138=) n.566C>G c.477C>G (p.Leu159=) c.423C>G (p.Leu141=) n.613C>G n.600C>G | |
| 20 | g.46725450C>T | CA510847623 | SLC2A10 | c.414C>T (p.Leu138=) n.566C>T c.477C>T (p.Leu159=) c.423C>T (p.Leu141=) n.613C>T n.600C>T | |
| 20 | g.46725451T>A | CA409266962 | SLC2A10 | c.415T>A (p.Tyr139Asn) n.567T>A c.478T>A (p.Tyr160Asn) c.424T>A (p.Tyr142Asn) n.614T>A n.601T>A | |
| 20 | g.46725451T>C | CA409266963 | SLC2A10 | c.415T>C (p.Tyr139His) n.567T>C c.478T>C (p.Tyr160His) c.424T>C (p.Tyr142His) n.614T>C n.601T>C | |
| 20 | g.46725451T>G | CA409266964 | SLC2A10 | c.415T>G (p.Tyr139Asp) n.567T>G c.478T>G (p.Tyr160Asp) c.424T>G (p.Tyr142Asp) n.614T>G n.601T>G | |
| 20 | g.46725452A= | CA2366796210 | SLC2A10 | c.416A= (p.Tyr139=) n.568A= c.479A= (p.Tyr160=) c.425A= (p.Tyr142=) n.615A= n.602A= | |
| 20 | g.46725452A>C | CA409266966 | SLC2A10 | c.416A>C (p.Tyr139Ser) n.568A>C c.479A>C (p.Tyr160Ser) c.425A>C (p.Tyr142Ser) n.615A>C n.602A>C | |
| 20 | g.46725452A>G | CA325089 | SLC2A10 | c.416A>G (p.Tyr139Cys) n.568A>G c.479A>G (p.Tyr160Cys) c.425A>G (p.Tyr142Cys) n.615A>G n.602A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.46725452A>T | CA409266965 | SLC2A10 | c.416A>T (p.Tyr139Phe) n.568A>T c.479A>T (p.Tyr160Phe) c.425A>T (p.Tyr142Phe) n.615A>T n.602A>T | |
| 20 | g.46725453T>A | CA347716 | SLC2A10 | c.417T>A (p.Tyr139Ter) n.569T>A c.480T>A (p.Tyr160Ter) c.426T>A (p.Tyr142Ter) n.616T>A n.603T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.46725453T>C | CA315755604 | SLC2A10 | c.417T>C (p.Tyr139=) n.569T>C c.480T>C (p.Tyr160=) c.426T>C (p.Tyr142=) n.616T>C n.603T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.46725453T>G | CA409266967 | SLC2A10 | c.417T>G (p.Tyr139Ter) n.569T>G c.480T>G (p.Tyr160Ter) c.426T>G (p.Tyr142Ter) n.616T>G n.603T>G | |
| 20 | g.46725453T= | CA2366796211 | SLC2A10 | c.417T= (p.Tyr139=) n.569T= c.480T= (p.Tyr160=) c.426T= (p.Tyr142=) n.616T= n.603T= |