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 |
|---|---|---|---|---|---|
| 1 | g.155294638C>A | CA342754332 | PKLR | c.809G>T (p.Arg270Leu) c.716G>T (p.Arg239Leu) c.968G>T (p.Arg323Leu) c.617G>T (p.Arg206Leu) | dbSNP gnomAD v4 |
| 1 | g.155294638C= | CA1200112237 | PKLR | c.809G= (p.Arg270=) c.716G= (p.Arg239=) c.968G= (p.Arg323=) c.617G= (p.Arg206=) | |
| 1 | g.155294638C>G | CA342754330 | PKLR | c.809G>C (p.Arg270Pro) c.716G>C (p.Arg239Pro) c.968G>C (p.Arg323Pro) c.617G>C (p.Arg206Pro) | gnomAD v4 |
| 1 | g.155294638C>T | CA342754327 | PKLR | c.809G>A (p.Arg270Gln) c.716G>A (p.Arg239Gln) c.968G>A (p.Arg323Gln) c.617G>A (p.Arg206Gln) | gnomAD v4 |
| 1 | g.155294639G>A | CA342754334 | PKLR | c.808C>T (p.Arg270Ter) c.715C>T (p.Arg239Ter) c.967C>T (p.Arg323Ter) c.616C>T (p.Arg206Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.155294639G>C | CA1144206 | PKLR | c.808C>G (p.Arg270Gly) c.715C>G (p.Arg239Gly) c.967C>G (p.Arg323Gly) c.616C>G (p.Arg206Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.155294639G= | CA1200112238 | PKLR | c.808C= (p.Arg270=) c.715C= (p.Arg239=) c.967C= (p.Arg323=) c.616C= (p.Arg206=) | |
| 1 | g.155294639G>T | CA1144205 | PKLR | c.808C>A (p.Arg270=) c.715C>A (p.Arg239=) c.967C>A (p.Arg323=) c.616C>A (p.Arg206=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.155294640G>A | CA421245696 | PKLR | c.807C>T (p.Val269=) c.714C>T (p.Val238=) c.966C>T (p.Val322=) c.615C>T (p.Val205=) | |
| 1 | g.155294640G>C | CA421245697 | PKLR | c.807C>G (p.Val269=) c.714C>G (p.Val238=) c.966C>G (p.Val322=) c.615C>G (p.Val205=) | |
| 1 | g.155294640G>T | CA421245698 | PKLR | c.807C>A (p.Val269=) c.714C>A (p.Val238=) c.966C>A (p.Val322=) c.615C>A (p.Val205=) | |
| 1 | g.155294641A= | CA1200112239 | PKLR | c.806T= (p.Val269=) c.713T= (p.Val238=) c.965T= (p.Val322=) c.614T= (p.Val205=) | |
| 1 | g.155294641A>C | CA342754339 | PKLR | c.806T>G (p.Val269Gly) c.713T>G (p.Val238Gly) c.965T>G (p.Val322Gly) c.614T>G (p.Val205Gly) | |
| 1 | g.155294641A>G | CA1144207 | PKLR | c.806T>C (p.Val269Ala) c.713T>C (p.Val238Ala) c.965T>C (p.Val322Ala) c.614T>C (p.Val205Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.155294641A>T | CA342754342 | PKLR | c.806T>A (p.Val269Asp) c.713T>A (p.Val238Asp) c.965T>A (p.Val322Asp) c.614T>A (p.Val205Asp) | dbSNP gnomAD v4 |
| 1 | g.155294641_155294650delinsACGTCCTGCT | CA1200112240 | PKLR | c.797_806delinsAGCAGGACGT (p.Glu266=) c.704_713delinsAGCAGGACGT (p.Glu235=) c.956_965delinsAGCAGGACGT (p.Glu319=) c.605_614delinsAGCAGGACGT (p.Glu202=) | |
| 1 | g.155294642C>A | CA1144208 | PKLR | c.805G>T (p.Val269Phe) c.712G>T (p.Val238Phe) c.964G>T (p.Val322Phe) c.613G>T (p.Val205Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155294642C= | CA1143434322 | PKLR | c.805G= (p.Val269=) c.712G= (p.Val238=) c.964G= (p.Val322=) c.613G= (p.Val205=) | |
| 1 | g.155294642C>G | CA342754345 | PKLR | c.805G>C (p.Val269Leu) c.712G>C (p.Val238Leu) c.964G>C (p.Val322Leu) c.613G>C (p.Val205Leu) | |
| 1 | g.155294642C>T | CA342754346 | PKLR | c.805G>A (p.Val269Ile) c.712G>A (p.Val238Ile) c.964G>A (p.Val322Ile) c.613G>A (p.Val205Ile) | gnomAD v4 COSMIC |
| 1 | g.155294644_155294652del | CA1007987022 | PKLR | c.797_805del (p.Glu266_Asp268del) c.704_712del (p.Glu235_Asp237del) c.956_964del (p.Glu319_Asp321del) c.605_613del (p.Glu202_Asp204del) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.155294643G>A | CA1144209 | PKLR | c.804C>T (p.Asp268=) c.711C>T (p.Asp237=) c.963C>T (p.Asp321=) c.612C>T (p.Asp204=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155294643G>C | CA342754350 | PKLR | c.804C>G (p.Asp268Glu) c.711C>G (p.Asp237Glu) c.963C>G (p.Asp321Glu) c.612C>G (p.Asp204Glu) | |
| 1 | g.155294643G= | CA1148006379 | PKLR | c.804C= (p.Asp268=) c.711C= (p.Asp237=) c.963C= (p.Asp321=) c.612C= (p.Asp204=) | |
| 1 | g.155294643G>T | CA342754352 | PKLR | c.804C>A (p.Asp268Glu) c.711C>A (p.Asp237Glu) c.963C>A (p.Asp321Glu) c.612C>A (p.Asp204Glu) | dbSNP gnomAD v4 |
| 1 | g.155294644T>A | CA342754353 | PKLR | c.803A>T (p.Asp268Val) c.710A>T (p.Asp237Val) c.962A>T (p.Asp321Val) c.611A>T (p.Asp204Val) | |
| 1 | g.155294644T>C | CA342754355 | PKLR | c.803A>G (p.Asp268Gly) c.710A>G (p.Asp237Gly) c.962A>G (p.Asp321Gly) c.611A>G (p.Asp204Gly) | |
| 1 | g.155294644T>G | CA342754357 | PKLR | c.803A>C (p.Asp268Ala) c.710A>C (p.Asp237Ala) c.962A>C (p.Asp321Ala) c.611A>C (p.Asp204Ala) | |
| 1 | g.155294645C>A | CA342754363 | PKLR | c.802G>T (p.Asp268Tyr) c.709G>T (p.Asp237Tyr) c.961G>T (p.Asp321Tyr) c.610G>T (p.Asp204Tyr) | |
| 1 | g.155294645C>G | CA342754360 | PKLR | c.802G>C (p.Asp268His) c.709G>C (p.Asp237His) c.961G>C (p.Asp321His) c.610G>C (p.Asp204His) | |
| 1 | g.155294645C>T | CA342754362 | PKLR | c.802G>A (p.Asp268Asn) c.709G>A (p.Asp237Asn) c.961G>A (p.Asp321Asn) c.610G>A (p.Asp204Asn) | |
| 1 | g.155294645_155294646insT | CA2586967538 | PKLR | c.801_802insA (p.Asp268ArgfsTer?) c.708_709insA (p.Asp237ArgfsTer?) c.960_961insA (p.Asp321ArgfsTer?) c.609_610insA (p.Asp204ArgfsTer?) | |
| 1 | g.155294646C>A | CA342754366 | PKLR | c.801G>T (p.Gln267His) c.708G>T (p.Gln236His) c.960G>T (p.Gln320His) c.609G>T (p.Gln203His) | |
| 1 | g.155294646C>G | CA342754368 | PKLR | c.801G>C (p.Gln267His) c.708G>C (p.Gln236His) c.960G>C (p.Gln320His) c.609G>C (p.Gln203His) | |
| 1 | g.155294646C>T | CA421245702 | PKLR | c.801G>A (p.Gln267=) c.708G>A (p.Gln236=) c.960G>A (p.Gln320=) c.609G>A (p.Gln203=) | |
| 1 | g.155294647T>A | CA342754370 | PKLR | c.800A>T (p.Gln267Leu) c.707A>T (p.Gln236Leu) c.959A>T (p.Gln320Leu) c.608A>T (p.Gln203Leu) | |
| 1 | g.155294647T>C | CA342754372 | PKLR | c.800A>G (p.Gln267Arg) c.707A>G (p.Gln236Arg) c.959A>G (p.Gln320Arg) c.608A>G (p.Gln203Arg) | |
| 1 | g.155294647T>G | CA342754374 | PKLR | c.800A>C (p.Gln267Pro) c.707A>C (p.Gln236Pro) c.959A>C (p.Gln320Pro) c.608A>C (p.Gln203Pro) | |
| 1 | g.155294648G>A | CA342754375 | PKLR | c.799C>T (p.Gln267Ter) c.706C>T (p.Gln236Ter) c.958C>T (p.Gln320Ter) c.607C>T (p.Gln203Ter) | ClinVar dbSNP |
| 1 | g.155294648G>C | CA342754377 | PKLR | c.799C>G (p.Gln267Glu) c.706C>G (p.Gln236Glu) c.958C>G (p.Gln320Glu) c.607C>G (p.Gln203Glu) | |
| 1 | g.155294648G= | CA1200112241 | PKLR | c.799C= (p.Gln267=) c.706C= (p.Gln236=) c.958C= (p.Gln320=) c.607C= (p.Gln203=) | |
| 1 | g.155294648G>T | CA1144210 | PKLR | c.799C>A (p.Gln267Lys) c.706C>A (p.Gln236Lys) c.958C>A (p.Gln320Lys) c.607C>A (p.Gln203Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.155294649_155294661dup | CA2648269429 | PKLR | c.787_799dup (p.Gln267ArgfsTer?) c.694_706dup (p.Gln236ArgfsTer?) c.946_958dup (p.Gln320ArgfsTer?) c.595_607dup (p.Gln203ArgfsTer?) | gnomAD v4 |
| 1 | g.155294649C>A | CA342754380 | PKLR | c.798G>T (p.Glu266Asp) c.705G>T (p.Glu235Asp) c.957G>T (p.Glu319Asp) c.606G>T (p.Glu202Asp) | |
| 1 | g.155294649C>G | CA342754382 | PKLR | c.798G>C (p.Glu266Asp) c.705G>C (p.Glu235Asp) c.957G>C (p.Glu319Asp) c.606G>C (p.Glu202Asp) | |
| 1 | g.155294649C>T | CA421245706 | PKLR | c.798G>A (p.Glu266=) c.705G>A (p.Glu235=) c.957G>A (p.Glu319=) c.606G>A (p.Glu202=) | gnomAD v4 |
| 1 | g.155294650T>A | CA342754386 | PKLR | c.797A>T (p.Glu266Val) c.704A>T (p.Glu235Val) c.956A>T (p.Glu319Val) c.605A>T (p.Glu202Val) | gnomAD v4 |
| 1 | g.155294650T>C | CA342754385 | PKLR | c.797A>G (p.Glu266Gly) c.704A>G (p.Glu235Gly) c.956A>G (p.Glu319Gly) c.605A>G (p.Glu202Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.155294650T>G | CA342754384 | PKLR | c.797A>C (p.Glu266Ala) c.704A>C (p.Glu235Ala) c.956A>C (p.Glu319Ala) c.605A>C (p.Glu202Ala) | |
| 1 | g.155294650T= | CA1200112242 | PKLR | c.797A= (p.Glu266=) c.704A= (p.Glu235=) c.956A= (p.Glu319=) c.605A= (p.Glu202=) |