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.21570334del | CA666629 | ALPL | c.822del (p.Glu274AspfsTer3) c.32del c.591del (p.Glu197AspfsTer3) c.657del (p.Glu219AspfsTer3) c.666del (p.Glu222AspfsTer3) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21570334A>C | CA338879930 | ALPL | c.822A>C (p.Glu274Asp) c.32A>C c.591A>C (p.Glu197Asp) c.657A>C (p.Glu219Asp) c.666A>C (p.Glu222Asp) | |
| 1 | g.21570334A>G | CA416530922 | ALPL | c.822A>G (p.Glu274=) c.32A>G c.591A>G (p.Glu197=) c.657A>G (p.Glu219=) c.666A>G (p.Glu222=) | |
| 1 | g.21570334A>T | CA338879931 | ALPL | c.822A>T (p.Glu274Asp) c.32A>T c.591A>T (p.Glu197Asp) c.657A>T (p.Glu219Asp) c.666A>T (p.Glu222Asp) | ClinVar |
| 1 | g.21570334_21570335del | CA2697552245 | ALPL | c.822_823del (p.Glu274AspfsTer5) c.32_33del c.591_592del (p.Glu197AspfsTer5) c.657_658del (p.Glu219AspfsTer5) c.666_667del (p.Glu222AspfsTer5) | ClinVar |
| 1 | g.21570335C>A | CA338879933 | ALPL | c.823C>A (p.Leu275Ile) c.33C>A c.592C>A (p.Leu198Ile) c.658C>A (p.Leu220Ile) c.667C>A (p.Leu223Ile) | |
| 1 | g.21570335C= | CA1149135273 | ALPL | c.823C= (p.Leu275=) c.33C= c.592C= (p.Leu198=) c.658C= (p.Leu220=) c.667C= (p.Leu223=) | |
| 1 | g.21570335C>G | CA666630 | ALPL | c.823C>G (p.Leu275Val) c.33C>G c.592C>G (p.Leu198Val) c.658C>G (p.Leu220Val) c.667C>G (p.Leu223Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21570335C>T | CA338879932 | ALPL | c.823C>T (p.Leu275Phe) c.33C>T c.592C>T (p.Leu198Phe) c.658C>T (p.Leu220Phe) c.667C>T (p.Leu223Phe) | ClinVar gnomAD v4 |
| 1 | g.21570336T>A | CA338879934 | ALPL | c.824T>A (p.Leu275His) c.34T>A c.593T>A (p.Leu198His) c.659T>A (p.Leu220His) c.668T>A (p.Leu223His) | |
| 1 | g.21570336T>C | CA338879935 | ALPL | c.824T>C (p.Leu275Pro) c.34T>C c.593T>C (p.Leu198Pro) c.659T>C (p.Leu220Pro) c.668T>C (p.Leu223Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21570336T>G | CA338879936 | ALPL | c.824T>G (p.Leu275Arg) c.34T>G c.593T>G (p.Leu198Arg) c.659T>G (p.Leu220Arg) c.668T>G (p.Leu223Arg) | |
| 1 | g.21570336T= | CA1158016964 | ALPL | c.824T= (p.Leu275=) c.34T= c.593T= (p.Leu198=) c.659T= (p.Leu220=) c.668T= (p.Leu223=) | |
| 1 | g.21570337C>A | CA416530928 | ALPL | c.825C>A (p.Leu275=) c.35C>A c.594C>A (p.Leu198=) c.660C>A (p.Leu220=) c.669C>A (p.Leu223=) | |
| 1 | g.21570337C>G | CA416530930 | ALPL | c.825C>G (p.Leu275=) c.35C>G c.594C>G (p.Leu198=) c.660C>G (p.Leu220=) c.669C>G (p.Leu223=) | |
| 1 | g.21570337C>T | CA416530932 | ALPL | c.825C>T (p.Leu275=) c.35C>T c.594C>T (p.Leu198=) c.660C>T (p.Leu220=) c.669C>T (p.Leu223=) | |
| 1 | g.21570338C>A | CA338879937 | ALPL | c.826C>A (p.Leu276Met) c.36C>A c.595C>A (p.Leu199Met) c.661C>A (p.Leu221Met) c.670C>A (p.Leu224Met) | |
| 1 | g.21570338C= | CA1158016965 | ALPL | c.826C= (p.Leu276=) c.36C= c.595C= (p.Leu199=) c.661C= (p.Leu221=) c.670C= (p.Leu224=) | |
| 1 | g.21570338C>G | CA338879938 | ALPL | c.826C>G (p.Leu276Val) c.36C>G c.595C>G (p.Leu199Val) c.661C>G (p.Leu221Val) c.670C>G (p.Leu224Val) | gnomAD v4 |
| 1 | g.21570338C>T | CA416530934 | ALPL | c.826C>T (p.Leu276=) c.36C>T c.595C>T (p.Leu199=) c.661C>T (p.Leu221=) c.670C>T (p.Leu224=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.21570339T>A | CA338879939 | ALPL | c.827T>A (p.Leu276Gln) c.37T>A c.596T>A (p.Leu199Gln) c.662T>A (p.Leu221Gln) c.671T>A (p.Leu224Gln) | |
| 1 | g.21570339T>C | CA338879940 | ALPL | c.827T>C (p.Leu276Pro) c.37T>C c.596T>C (p.Leu199Pro) c.662T>C (p.Leu221Pro) c.671T>C (p.Leu224Pro) | ClinVar dbSNP |
| 1 | g.21570339T>G | CA338879941 | ALPL | c.827T>G (p.Leu276Arg) c.37T>G c.596T>G (p.Leu199Arg) c.662T>G (p.Leu221Arg) c.671T>G (p.Leu224Arg) | |
| 1 | g.21570339T= | CA1158016966 | ALPL | c.827T= (p.Leu276=) c.37T= c.596T= (p.Leu199=) c.662T= (p.Leu221=) c.671T= (p.Leu224=) | |
| 1 | g.21570340G>A | CA416530940 | ALPL | c.828G>A (p.Leu276=) c.38G>A c.597G>A (p.Leu199=) c.663G>A (p.Leu221=) c.672G>A (p.Leu224=) | |
| 1 | g.21570340G>C | CA416530939 | ALPL | c.828G>C (p.Leu276=) c.38G>C c.597G>C (p.Leu199=) c.663G>C (p.Leu221=) c.672G>C (p.Leu224=) | |
| 1 | g.21570340G>T | CA416530942 | ALPL | c.828G>T (p.Leu276=) c.38G>T c.597G>T (p.Leu199=) c.663G>T (p.Leu221=) c.672G>T (p.Leu224=) | |
| 1 | g.21570341A>C | CA338879942 | ALPL | c.829A>C (p.Thr277Pro) c.39A>C c.598A>C (p.Thr200Pro) c.664A>C (p.Thr222Pro) c.673A>C (p.Thr225Pro) | |
| 1 | g.21570341A>G | CA338879943 | ALPL | c.829A>G (p.Thr277Ala) c.39A>G c.598A>G (p.Thr200Ala) c.664A>G (p.Thr222Ala) c.673A>G (p.Thr225Ala) | |
| 1 | g.21570341A>T | CA338879944 | ALPL | c.829A>T (p.Thr277Ser) c.39A>T c.598A>T (p.Thr200Ser) c.664A>T (p.Thr222Ser) c.673A>T (p.Thr225Ser) | |
| 1 | g.21570342C>A | CA338879947 | ALPL | c.830C>A (p.Thr277Asn) c.40C>A c.599C>A (p.Thr200Asn) c.665C>A (p.Thr222Asn) c.674C>A (p.Thr225Asn) | |
| 1 | g.21570342C>G | CA338879946 | ALPL | c.830C>G (p.Thr277Ser) c.40C>G c.599C>G (p.Thr200Ser) c.665C>G (p.Thr222Ser) c.674C>G (p.Thr225Ser) | |
| 1 | g.21570342C>T | CA338879945 | ALPL | c.830C>T (p.Thr277Ile) c.40C>T c.599C>T (p.Thr200Ile) c.665C>T (p.Thr222Ile) c.674C>T (p.Thr225Ile) | gnomAD v3 gnomAD v4 |
| 1 | g.21570343C>A | CA416530950 | ALPL | c.831C>A (p.Thr277=) c.41C>A c.600C>A (p.Thr200=) c.666C>A (p.Thr222=) c.675C>A (p.Thr225=) | ClinVar dbSNP gnomAD v2 |
| 1 | g.21570343C= | CA1158016967 | ALPL | c.831C= (p.Thr277=) c.41C= c.600C= (p.Thr200=) c.666C= (p.Thr222=) c.675C= (p.Thr225=) | |
| 1 | g.21570343C>G | CA416530952 | ALPL | c.831C>G (p.Thr277=) c.41C>G c.600C>G (p.Thr200=) c.666C>G (p.Thr222=) c.675C>G (p.Thr225=) | ClinVar dbSNP |
| 1 | g.21570343C>T | CA416530948 | ALPL | c.831C>T (p.Thr277=) c.41C>T c.600C>T (p.Thr200=) c.666C>T (p.Thr222=) c.675C>T (p.Thr225=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.21570344C>A | CA338879948 | ALPL | c.832C>A (p.Leu278Ile) c.42C>A c.601C>A (p.Leu201Ile) c.667C>A (p.Leu223Ile) c.676C>A (p.Leu226Ile) | |
| 1 | g.21570344C>G | CA338879949 | ALPL | c.832C>G (p.Leu278Val) c.42C>G c.601C>G (p.Leu201Val) c.667C>G (p.Leu223Val) c.676C>G (p.Leu226Val) | gnomAD v4 |
| 1 | g.21570344C>T | CA338879950 | ALPL | c.832C>T (p.Leu278Phe) c.42C>T c.601C>T (p.Leu201Phe) c.667C>T (p.Leu223Phe) c.676C>T (p.Leu226Phe) | |
| 1 | g.21570345T>A | CA338879951 | ALPL | c.833T>A (p.Leu278His) c.43T>A c.602T>A (p.Leu201His) c.668T>A (p.Leu223His) c.677T>A (p.Leu226His) | gnomAD v4 |
| 1 | g.21570345T>C | CA338879952 | ALPL | c.833T>C (p.Leu278Pro) c.43T>C c.602T>C (p.Leu201Pro) c.668T>C (p.Leu223Pro) c.677T>C (p.Leu226Pro) | ClinVar dbSNP |
| 1 | g.21570345T>G | CA338879953 | ALPL | c.833T>G (p.Leu278Arg) c.43T>G c.602T>G (p.Leu201Arg) c.668T>G (p.Leu223Arg) c.677T>G (p.Leu226Arg) | |
| 1 | g.21570346T>A | CA416530961 | ALPL | c.834T>A (p.Leu278=) c.44T>A c.603T>A (p.Leu201=) c.669T>A (p.Leu223=) c.678T>A (p.Leu226=) | |
| 1 | g.21570346T>C | CA416530957 | ALPL | c.834T>C (p.Leu278=) c.44T>C c.603T>C (p.Leu201=) c.669T>C (p.Leu223=) c.678T>C (p.Leu226=) | |
| 1 | g.21570346T>G | CA416530959 | ALPL | c.834T>G (p.Leu278=) c.44T>G c.603T>G (p.Leu201=) c.669T>G (p.Leu223=) c.678T>G (p.Leu226=) | |
| 1 | g.21570347G>A | CA338879954 | ALPL | c.835G>A (p.Asp279Asn) c.45G>A c.604G>A (p.Asp202Asn) c.670G>A (p.Asp224Asn) c.679G>A (p.Asp227Asn) | |
| 1 | g.21570347G>C | CA338879955 | ALPL | c.835G>C (p.Asp279His) c.45G>C c.604G>C (p.Asp202His) c.670G>C (p.Asp224His) c.679G>C (p.Asp227His) | dbSNP gnomAD v2 |
| 1 | g.21570347G= | CA1158016968 | ALPL | c.835G= (p.Asp279=) c.45G= c.604G= (p.Asp202=) c.670G= (p.Asp224=) c.679G= (p.Asp227=) | |
| 1 | g.21570347G>T | CA338879956 | ALPL | c.835G>T (p.Asp279Tyr) c.45G>T c.604G>T (p.Asp202Tyr) c.670G>T (p.Asp224Tyr) c.679G>T (p.Asp227Tyr) |