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 |
|---|---|---|---|---|---|
| 3 | g.87262203C>A | CA353693052 | POU1F1 | c.550G>T (p.Ala184Ser) c.472G>T (p.Ala158Ser) c.439+2085G>T (n.439+2085G>T) c.247G>T (p.Ala83Ser) | dbSNP |
| 3 | g.87262203C= | CA1381533116 | POU1F1 | c.550G= (p.Ala184=) c.472G= (p.Ala158=) c.439+2085G= (n.439+2085G=) c.247G= (p.Ala83=) | |
| 3 | g.87262203C>G | CA250605 | POU1F1 | c.550G>C (p.Ala184Pro) c.472G>C (p.Ala158Pro) c.439+2085G>C (n.439+2085G>C) c.247G>C (p.Ala83Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.87262203C>T | CA2501176 | POU1F1 | c.550G>A (p.Ala184Thr) c.472G>A (p.Ala158Thr) c.439+2085G>A (n.439+2085G>A) c.247G>A (p.Ala83Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.87262204C>A | CA434575744 | POU1F1 | c.549G>T (p.Leu183=) c.471G>T (p.Leu157=) c.439+2084G>T (n.439+2084G>T) c.246G>T (p.Leu82=) | dbSNP |
| 3 | g.87262204C= | CA1381533123 | POU1F1 | c.549G= (p.Leu183=) c.471G= (p.Leu157=) c.439+2084G= (n.439+2084G=) c.246G= (p.Leu82=) | |
| 3 | g.87262204C>G | CA434575746 | POU1F1 | c.549G>C (p.Leu183=) c.471G>C (p.Leu157=) c.439+2084G>C (n.439+2084G>C) c.246G>C (p.Leu82=) | COSMIC COSMIC |
| 3 | g.87262204C>T | CA434575745 | POU1F1 | c.549G>A (p.Leu183=) c.471G>A (p.Leu157=) c.439+2084G>A (n.439+2084G>A) c.246G>A (p.Leu82=) | ClinVar dbSNP |
| 3 | g.87262205A>C | CA353693053 | POU1F1 | c.548T>G (p.Leu183Arg) c.470T>G (p.Leu157Arg) c.439+2083T>G (n.439+2083T>G) c.245T>G (p.Leu82Arg) | |
| 3 | g.87262205A>G | CA353693054 | POU1F1 | c.548T>C (p.Leu183Pro) c.470T>C (p.Leu157Pro) c.439+2083T>C (n.439+2083T>C) c.245T>C (p.Leu82Pro) | |
| 3 | g.87262205A>T | CA353693056 | POU1F1 | c.548T>A (p.Leu183Gln) c.470T>A (p.Leu157Gln) c.439+2083T>A (n.439+2083T>A) c.245T>A (p.Leu82Gln) | |
| 3 | g.87262206G>A | CA434575747 | POU1F1 | c.547C>T (p.Leu183=) c.469C>T (p.Leu157=) c.439+2082C>T (n.439+2082C>T) c.244C>T (p.Leu82=) | dbSNP |
| 3 | g.87262206G>C | CA353693059 | POU1F1 | c.547C>G (p.Leu183Val) c.469C>G (p.Leu157Val) c.439+2082C>G (n.439+2082C>G) c.244C>G (p.Leu82Val) | |
| 3 | g.87262206G= | CA1381533124 | POU1F1 | c.547C= (p.Leu183=) c.469C= (p.Leu157=) c.439+2082C= (n.439+2082C=) c.244C= (p.Leu82=) | |
| 3 | g.87262206G>T | CA353693061 | POU1F1 | c.547C>A (p.Leu183Met) c.469C>A (p.Leu157Met) c.439+2082C>A (n.439+2082C>A) c.244C>A (p.Leu82Met) | |
| 3 | g.87262207G>A | CA434575748 | POU1F1 | c.546C>T (p.Ala182=) c.468C>T (p.Ala156=) c.439+2081C>T (n.439+2081C>T) c.243C>T (p.Ala81=) | |
| 3 | g.87262207G>C | CA434575749 | POU1F1 | c.546C>G (p.Ala182=) c.468C>G (p.Ala156=) c.439+2081C>G (n.439+2081C>G) c.243C>G (p.Ala81=) | |
| 3 | g.87262207G>T | CA434575750 | POU1F1 | c.546C>A (p.Ala182=) c.468C>A (p.Ala156=) c.439+2081C>A (n.439+2081C>A) c.243C>A (p.Ala81=) | |
| 3 | g.87262208G>A | CA353693063 | POU1F1 | c.545C>T (p.Ala182Val) c.467C>T (p.Ala156Val) c.439+2080C>T (n.439+2080C>T) c.242C>T (p.Ala81Val) | |
| 3 | g.87262208G>C | CA353693065 | POU1F1 | c.545C>G (p.Ala182Gly) c.467C>G (p.Ala156Gly) c.439+2080C>G (n.439+2080C>G) c.242C>G (p.Ala81Gly) | |
| 3 | g.87262208G>T | CA353693066 | POU1F1 | c.545C>A (p.Ala182Asp) c.467C>A (p.Ala156Asp) c.439+2080C>A (n.439+2080C>A) c.242C>A (p.Ala81Asp) | gnomAD v4 |
| 3 | g.87262209C>A | CA353693068 | POU1F1 | c.544G>T (p.Ala182Ser) c.466G>T (p.Ala156Ser) c.439+2079G>T (n.439+2079G>T) c.241G>T (p.Ala81Ser) | |
| 3 | g.87262209C>G | CA353693071 | POU1F1 | c.544G>C (p.Ala182Pro) c.466G>C (p.Ala156Pro) c.439+2079G>C (n.439+2079G>C) c.241G>C (p.Ala81Pro) | |
| 3 | g.87262209C>T | CA353693073 | POU1F1 | c.544G>A (p.Ala182Thr) c.466G>A (p.Ala156Thr) c.439+2079G>A (n.439+2079G>A) c.241G>A (p.Ala81Thr) | |
| 3 | g.87262210C>A | CA353693075 | POU1F1 | c.543G>T (p.Glu181Asp) c.465G>T (p.Glu155Asp) c.439+2078G>T (n.439+2078G>T) c.240G>T (p.Glu80Asp) | |
| 3 | g.87262210C= | CA1381533125 | POU1F1 | c.543G= (p.Glu181=) c.465G= (p.Glu155=) c.439+2078G= (n.439+2078G=) c.240G= (p.Glu80=) | |
| 3 | g.87262210C>G | CA353693077 | POU1F1 | c.543G>C (p.Glu181Asp) c.465G>C (p.Glu155Asp) c.439+2078G>C (n.439+2078G>C) c.240G>C (p.Glu80Asp) | |
| 3 | g.87262210C>T | CA434575751 | POU1F1 | c.543G>A (p.Glu181=) c.465G>A (p.Glu155=) c.439+2078G>A (n.439+2078G>A) c.240G>A (p.Glu80=) | dbSNP |
| 3 | g.87262211T>A | CA353693079 | POU1F1 | c.542A>T (p.Glu181Val) c.464A>T (p.Glu155Val) c.439+2077A>T (n.439+2077A>T) c.239A>T (p.Glu80Val) | |
| 3 | g.87262211T>C | CA353693081 | POU1F1 | c.542A>G (p.Glu181Gly) c.464A>G (p.Glu155Gly) c.439+2077A>G (n.439+2077A>G) c.239A>G (p.Glu80Gly) | |
| 3 | g.87262211T>G | CA353693080 | POU1F1 | c.542A>C (p.Glu181Ala) c.464A>C (p.Glu155Ala) c.439+2077A>C (n.439+2077A>C) c.239A>C (p.Glu80Ala) | |
| 3 | g.87262212C>A | CA353693082 | POU1F1 | c.541G>T (p.Glu181Ter) c.463G>T (p.Glu155Ter) c.439+2076G>T (n.439+2076G>T) c.238G>T (p.Glu80Ter) | |
| 3 | g.87262212C>G | CA353693083 | POU1F1 | c.541G>C (p.Glu181Gln) c.463G>C (p.Glu155Gln) c.439+2076G>C (n.439+2076G>C) c.238G>C (p.Glu80Gln) | |
| 3 | g.87262212C>T | CA353693085 | POU1F1 | c.541G>A (p.Glu181Lys) c.463G>A (p.Glu155Lys) c.439+2076G>A (n.439+2076G>A) c.238G>A (p.Glu80Lys) | gnomAD v4 |
| 3 | g.87262213C>A | CA434575753 | POU1F1 | c.540G>T (p.Gly180=) c.462G>T (p.Gly154=) c.439+2075G>T (n.439+2075G>T) c.237G>T (p.Gly79=) | |
| 3 | g.87262213C= | CA1381533127 | POU1F1 | c.540G= (p.Gly180=) c.462G= (p.Gly154=) c.439+2075G= (n.439+2075G=) c.237G= (p.Gly79=) | |
| 3 | g.87262213C>G | CA434575752 | POU1F1 | c.540G>C (p.Gly180=) c.462G>C (p.Gly154=) c.439+2075G>C (n.439+2075G>C) c.237G>C (p.Gly79=) | |
| 3 | g.87262213C>T | CA79036678 | POU1F1 | c.540G>A (p.Gly180=) c.462G>A (p.Gly154=) c.439+2075G>A (n.439+2075G>A) c.237G>A (p.Gly79=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.87262214C>A | CA353693088 | POU1F1 | c.539G>T (p.Gly180Val) c.461G>T (p.Gly154Val) c.439+2074G>T (n.439+2074G>T) c.236G>T (p.Gly79Val) | |
| 3 | g.87262214C>G | CA353693090 | POU1F1 | c.539G>C (p.Gly180Ala) c.461G>C (p.Gly154Ala) c.439+2074G>C (n.439+2074G>C) c.236G>C (p.Gly79Ala) | |
| 3 | g.87262214C>T | CA353693091 | POU1F1 | c.539G>A (p.Gly180Glu) c.461G>A (p.Gly154Glu) c.439+2074G>A (n.439+2074G>A) c.236G>A (p.Gly79Glu) | |
| 3 | g.87262215C>A | CA353693092 | POU1F1 | c.538G>T (p.Gly180Trp) c.460G>T (p.Gly154Trp) c.439+2073G>T (n.439+2073G>T) c.235G>T (p.Gly79Trp) | |
| 3 | g.87262215C>G | CA353693095 | POU1F1 | c.538G>C (p.Gly180Arg) c.460G>C (p.Gly154Arg) c.439+2073G>C (n.439+2073G>C) c.235G>C (p.Gly79Arg) | |
| 3 | g.87262215C>T | CA353693097 | POU1F1 | c.538G>A (p.Gly180Arg) c.460G>A (p.Gly154Arg) c.439+2073G>A (n.439+2073G>A) c.235G>A (p.Gly79Arg) | |
| 3 | g.87262216A>C | CA434575754 | POU1F1 | c.537T>G (p.Val179=) c.459T>G (p.Val153=) c.439+2072T>G (n.439+2072T>G) c.234T>G (p.Val78=) | |
| 3 | g.87262216A>G | CA434575755 | POU1F1 | c.537T>C (p.Val179=) c.459T>C (p.Val153=) c.439+2072T>C (n.439+2072T>C) c.234T>C (p.Val78=) | |
| 3 | g.87262216A>T | CA434575756 | POU1F1 | c.537T>A (p.Val179=) c.459T>A (p.Val153=) c.439+2072T>A (n.439+2072T>A) c.234T>A (p.Val78=) | |
| 3 | g.87262217A>C | CA353693098 | POU1F1 | c.536T>G (p.Val179Gly) c.458T>G (p.Val153Gly) c.439+2071T>G (n.439+2071T>G) c.233T>G (p.Val78Gly) | |
| 3 | g.87262217A>G | CA353693099 | POU1F1 | c.536T>C (p.Val179Ala) c.458T>C (p.Val153Ala) c.439+2071T>C (n.439+2071T>C) c.233T>C (p.Val78Ala) | gnomAD v4 |
| 3 | g.87262217A>T | CA353693100 | POU1F1 | c.536T>A (p.Val179Asp) c.458T>A (p.Val153Asp) c.439+2071T>A (n.439+2071T>A) c.233T>A (p.Val78Asp) |