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.21575738A>C | CA416532771 | ALPL | c.1003A>C (p.Arg335=) n.272A>C c.78A>C c.772A>C (p.Arg258=) c.838A>C (p.Arg280=) c.847A>C (p.Arg283=) | ClinVar |
| 1 | g.21575738A>G | CA338880945 | ALPL | c.1003A>G (p.Arg335Gly) n.272A>G c.78A>G c.772A>G (p.Arg258Gly) c.838A>G (p.Arg280Gly) c.847A>G (p.Arg283Gly) | gnomAD v4 |
| 1 | g.21575738A>T | CA338880946 | ALPL | c.1003A>T (p.Arg335Ter) n.272A>T c.78A>T c.772A>T (p.Arg258Ter) c.838A>T (p.Arg280Ter) c.847A>T (p.Arg283Ter) | |
| 1 | g.21575739G>A | CA338880951 | ALPL | c.1004G>A (p.Arg335Lys) n.273G>A c.79G>A c.773G>A (p.Arg258Lys) c.839G>A (p.Arg280Lys) c.848G>A (p.Arg283Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21575739G>C | CA16603569 | ALPL | c.1004G>C (p.Arg335Thr) n.273G>C c.79G>C c.773G>C (p.Arg258Thr) c.839G>C (p.Arg280Thr) c.848G>C (p.Arg283Thr) | ClinVar dbSNP gnomAD v4 |
| 1 | g.21575739G= | CA1158019283 | ALPL | c.1004G= (p.Arg335=) n.273G= c.79G= c.773G= (p.Arg258=) c.839G= (p.Arg280=) c.848G= (p.Arg283=) | |
| 1 | g.21575739G>T | CA338880949 | ALPL | c.1004G>T (p.Arg335Ile) n.273G>T c.79G>T c.773G>T (p.Arg258Ile) c.839G>T (p.Arg280Ile) c.848G>T (p.Arg283Ile) | |
| 1 | g.21575740A>C | CA338880952 | ALPL | c.1005A>C (p.Arg335Ser) n.274A>C c.80A>C c.774A>C (p.Arg258Ser) c.840A>C (p.Arg280Ser) c.849A>C (p.Arg283Ser) | |
| 1 | g.21575740A>G | CA416532780 | ALPL | c.1005A>G (p.Arg335=) n.274A>G c.80A>G c.774A>G (p.Arg258=) c.840A>G (p.Arg280=) c.849A>G (p.Arg283=) | |
| 1 | g.21575740A>T | CA338880954 | ALPL | c.1005A>T (p.Arg335Ser) n.274A>T c.80A>T c.774A>T (p.Arg258Ser) c.840A>T (p.Arg280Ser) c.849A>T (p.Arg283Ser) | |
| 1 | g.21575741A>C | CA338880956 | ALPL | c.1006A>C (p.Ile336Leu) n.275A>C c.81A>C c.775A>C (p.Ile259Leu) c.841A>C (p.Ile281Leu) c.850A>C (p.Ile284Leu) | |
| 1 | g.21575741A>G | CA338880957 | ALPL | c.1006A>G (p.Ile336Val) n.275A>G c.81A>G c.775A>G (p.Ile259Val) c.841A>G (p.Ile281Val) c.850A>G (p.Ile284Val) | |
| 1 | g.21575741A>T | CA338880959 | ALPL | c.1006A>T (p.Ile336Phe) n.275A>T c.81A>T c.775A>T (p.Ile259Phe) c.841A>T (p.Ile281Phe) c.850A>T (p.Ile284Phe) | |
| 1 | g.21575742T>A | CA338880961 | ALPL | c.1007T>A (p.Ile336Asn) n.276T>A c.82T>A c.776T>A (p.Ile259Asn) c.842T>A (p.Ile281Asn) c.851T>A (p.Ile284Asn) | |
| 1 | g.21575742T>C | CA338880963 | ALPL | c.1007T>C (p.Ile336Thr) n.276T>C c.82T>C c.776T>C (p.Ile259Thr) c.842T>C (p.Ile281Thr) c.851T>C (p.Ile284Thr) | ClinVar dbSNP |
| 1 | g.21575742T>G | CA338880962 | ALPL | c.1007T>G (p.Ile336Ser) n.276T>G c.82T>G c.776T>G (p.Ile259Ser) c.842T>G (p.Ile281Ser) c.851T>G (p.Ile284Ser) | |
| 1 | g.21575742T= | CA1158019284 | ALPL | c.1007T= (p.Ile336=) n.276T= c.82T= c.776T= (p.Ile259=) c.842T= (p.Ile281=) c.851T= (p.Ile284=) | |
| 1 | g.21575743T>A | CA416532790 | ALPL | c.1008T>A (p.Ile336=) n.277T>A c.83T>A c.777T>A (p.Ile259=) c.843T>A (p.Ile281=) c.852T>A (p.Ile284=) | gnomAD v4 |
| 1 | g.21575743T>C | CA416532792 | ALPL | c.1008T>C (p.Ile336=) n.277T>C c.83T>C c.777T>C (p.Ile259=) c.843T>C (p.Ile281=) c.852T>C (p.Ile284=) | |
| 1 | g.21575743T>G | CA338880965 | ALPL | c.1008T>G (p.Ile336Met) n.277T>G c.83T>G c.777T>G (p.Ile259Met) c.843T>G (p.Ile281Met) c.852T>G (p.Ile284Met) | |
| 1 | g.21575744G>A | CA338880967 | ALPL | c.1009G>A (p.Asp337Asn) n.278G>A c.84G>A c.778G>A (p.Asp260Asn) c.844G>A (p.Asp282Asn) c.853G>A (p.Asp285Asn) | |
| 1 | g.21575744G>C | CA338880969 | ALPL | c.1009G>C (p.Asp337His) n.278G>C c.84G>C c.778G>C (p.Asp260His) c.844G>C (p.Asp282His) c.853G>C (p.Asp285His) | |
| 1 | g.21575744G>T | CA338880971 | ALPL | c.1009G>T (p.Asp337Tyr) n.278G>T c.84G>T c.778G>T (p.Asp260Tyr) c.844G>T (p.Asp282Tyr) c.853G>T (p.Asp285Tyr) | |
| 1 | g.21575745A= | CA1158019285 | ALPL | c.1010A= (p.Asp337=) n.279A= c.85A= c.779A= (p.Asp260=) c.845A= (p.Asp282=) c.854A= (p.Asp285=) | |
| 1 | g.21575745A>C | CA338880973 | ALPL | c.1010A>C (p.Asp337Ala) n.279A>C c.85A>C c.779A>C (p.Asp260Ala) c.845A>C (p.Asp282Ala) c.854A>C (p.Asp285Ala) | |
| 1 | g.21575745A>G | CA338880974 | ALPL | c.1010A>G (p.Asp337Gly) n.279A>G c.85A>G c.779A>G (p.Asp260Gly) c.845A>G (p.Asp282Gly) c.854A>G (p.Asp285Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21575745A>T | CA338880975 | ALPL | c.1010A>T (p.Asp337Val) n.279A>T c.85A>T c.779A>T (p.Asp260Val) c.845A>T (p.Asp282Val) c.854A>T (p.Asp285Val) | |
| 1 | g.21575746C>A | CA338880977 | ALPL | c.1011C>A (p.Asp337Glu) n.280C>A c.86C>A c.780C>A (p.Asp260Glu) c.846C>A (p.Asp282Glu) c.855C>A (p.Asp285Glu) | |
| 1 | g.21575746C>G | CA338880979 | ALPL | c.1011C>G (p.Asp337Glu) n.280C>G c.86C>G c.780C>G (p.Asp260Glu) c.846C>G (p.Asp282Glu) c.855C>G (p.Asp285Glu) | |
| 1 | g.21575746C>T | CA416532810 | ALPL | c.1011C>T (p.Asp337=) n.280C>T c.86C>T c.780C>T (p.Asp260=) c.846C>T (p.Asp282=) c.855C>T (p.Asp285=) | ClinVar dbSNP |
| 1 | g.21575747C>A | CA338880980 | ALPL | c.1012C>A (p.His338Asn) n.281C>A c.87C>A c.781C>A (p.His261Asn) c.847C>A (p.His283Asn) c.856C>A (p.His286Asn) | |
| 1 | g.21575747C>G | CA338880981 | ALPL | c.1012C>G (p.His338Asp) n.281C>G c.87C>G c.781C>G (p.His261Asp) c.847C>G (p.His283Asp) c.856C>G (p.His286Asp) | |
| 1 | g.21575747C>T | CA338880983 | ALPL | c.1012C>T (p.His338Tyr) n.281C>T c.87C>T c.781C>T (p.His261Tyr) c.847C>T (p.His283Tyr) c.856C>T (p.His286Tyr) | |
| 1 | g.21575748A>C | CA338880985 | ALPL | c.1013A>C (p.His338Pro) n.282A>C c.88A>C c.782A>C (p.His261Pro) c.848A>C (p.His283Pro) c.857A>C (p.His286Pro) | |
| 1 | g.21575748A>G | CA338880988 | ALPL | c.1013A>G (p.His338Arg) n.282A>G c.88A>G c.782A>G (p.His261Arg) c.848A>G (p.His283Arg) c.857A>G (p.His286Arg) | |
| 1 | g.21575748A>T | CA338880987 | ALPL | c.1013A>T (p.His338Leu) n.282A>T c.88A>T c.782A>T (p.His261Leu) c.848A>T (p.His283Leu) c.857A>T (p.His286Leu) | |
| 1 | g.21575749C>A | CA338880989 | ALPL | c.1014C>A (p.His338Gln) n.283C>A c.89C>A c.783C>A (p.His261Gln) c.849C>A (p.His283Gln) c.858C>A (p.His286Gln) | |
| 1 | g.21575749C= | CA1142193131 | ALPL | c.1014C= (p.His338=) n.283C= c.89C= c.783C= (p.His261=) c.849C= (p.His283=) c.858C= (p.His286=) | |
| 1 | g.21575749C>G | CA338880991 | ALPL | c.1014C>G (p.His338Gln) n.283C>G c.89C>G c.783C>G (p.His261Gln) c.849C>G (p.His283Gln) c.858C>G (p.His286Gln) | |
| 1 | g.21575749C>T | CA666720 | ALPL | c.1014C>T (p.His338=) n.283C>T c.89C>T c.783C>T (p.His261=) c.849C>T (p.His283=) c.858C>T (p.His286=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21575749dup | CA913072854 | ALPL | c.1014dup (p.Gly339ArgfsTer4) n.283dup c.89dup c.783dup (p.Gly262ArgfsTer4) c.849dup (p.Gly284ArgfsTer4) c.858dup (p.Gly287ArgfsTer4) | |
| 1 | g.21575750G>A | CA338880993 | ALPL | c.1015G>A (p.Gly339Arg) n.284G>A c.90G>A c.784G>A (p.Gly262Arg) c.850G>A (p.Gly284Arg) c.859G>A (p.Gly287Arg) | ClinVar dbSNP gnomAD v4 |
| 1 | g.21575750G>C | CA338880994 | ALPL | c.1015G>C (p.Gly339Arg) n.284G>C c.90G>C c.784G>C (p.Gly262Arg) c.850G>C (p.Gly284Arg) c.859G>C (p.Gly287Arg) | |
| 1 | g.21575750G>T | CA338880996 | ALPL | c.1015G>T (p.Gly339Trp) n.284G>T c.90G>T c.784G>T (p.Gly262Trp) c.850G>T (p.Gly284Trp) c.859G>T (p.Gly287Trp) | |
| 1 | g.21575752dup | CA666721 | ALPL | c.1017dup (p.His340AlafsTer3) n.286dup c.92dup c.786dup (p.His263AlafsTer3) c.852dup (p.His285AlafsTer3) c.861dup (p.His288AlafsTer3) | ClinVar dbSNP ExAC gnomAD v2 |
| 1 | g.21575751G>A | CA338880998 | ALPL | c.1016G>A (p.Gly339Glu) n.285G>A c.91G>A c.785G>A (p.Gly262Glu) c.851G>A (p.Gly284Glu) c.860G>A (p.Gly287Glu) | ClinVar |
| 1 | g.21575751G>C | CA338880999 | ALPL | c.1016G>C (p.Gly339Ala) n.285G>C c.91G>C c.785G>C (p.Gly262Ala) c.851G>C (p.Gly284Ala) c.860G>C (p.Gly287Ala) | |
| 1 | g.21575751G>T | CA338881000 | ALPL | c.1016G>T (p.Gly339Val) n.285G>T c.91G>T c.785G>T (p.Gly262Val) c.851G>T (p.Gly284Val) c.860G>T (p.Gly287Val) | |
| 1 | g.21575752G>A | CA416532836 | ALPL | c.1017G>A (p.Gly339=) n.286G>A c.92G>A c.786G>A (p.Gly262=) c.852G>A (p.Gly284=) c.861G>A (p.Gly287=) | ClinVar |
| 1 | g.21575752G>C | CA416532845 | ALPL | c.1017G>C (p.Gly339=) n.286G>C c.92G>C c.786G>C (p.Gly262=) c.852G>C (p.Gly284=) c.861G>C (p.Gly287=) |