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 |
|---|---|---|---|---|---|
| 4 | g.73418257T>A | CA357245063 | ALB | c.1598T>A (p.Phe533Tyr) c.1253T>A (p.Phe418Tyr) c.1022T>A (p.Phe341Tyr) c.*877T>A (n.*877T>A) n.252T>A c.1148T>A (p.Phe383Tyr) n.1145T>A c.1131T>A c.959T>A (p.Phe320Tyr) | |
| 4 | g.73418257T>C | CA357245069 | ALB | c.1598T>C (p.Phe533Ser) c.1253T>C (p.Phe418Ser) c.1022T>C (p.Phe341Ser) c.*877T>C (n.*877T>C) n.252T>C c.1148T>C (p.Phe383Ser) n.1145T>C c.1131T>C c.959T>C (p.Phe320Ser) | |
| 4 | g.73418257T>G | CA357245066 | ALB | c.1598T>G (p.Phe533Cys) c.1253T>G (p.Phe418Cys) c.1022T>G (p.Phe341Cys) c.*877T>G (n.*877T>G) n.252T>G c.1148T>G (p.Phe383Cys) n.1145T>G c.1131T>G c.959T>G (p.Phe320Cys) | |
| 4 | g.73418258C>A | CA357245083 | ALB | c.1599C>A (p.Phe533Leu) c.1254C>A (p.Phe418Leu) c.1023C>A (p.Phe341Leu) c.*878C>A (n.*878C>A) n.253C>A c.1149C>A (p.Phe383Leu) n.1146C>A c.1132C>A c.960C>A (p.Phe320Leu) | dbSNP |
| 4 | g.73418258C= | CA1468146940 | ALB | c.1599C= (p.Phe533=) c.1254C= (p.Phe418=) c.1023C= (p.Phe341=) c.*878C= (n.*878C=) n.253C= c.1149C= (p.Phe383=) n.1146C= c.1132C= c.960C= (p.Phe320=) | |
| 4 | g.73418258C>G | CA2959690 | ALB | c.1599C>G (p.Phe533Leu) c.1254C>G (p.Phe418Leu) c.1023C>G (p.Phe341Leu) c.*878C>G (n.*878C>G) n.253C>G c.1149C>G (p.Phe383Leu) n.1146C>G c.1132C>G c.960C>G (p.Phe320Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.73418258C>T | CA439948415 | ALB | c.1599C>T (p.Phe533=) c.1254C>T (p.Phe418=) c.1023C>T (p.Phe341=) c.*878C>T (n.*878C>T) n.253C>T c.1149C>T (p.Phe383=) n.1146C>T c.1132C>T c.960C>T (p.Phe320=) | dbSNP |
| 4 | g.73418259del | CA2706483270 | ALB | c.1600del (p.His534MetfsTer24) c.1255del (p.His419MetfsTer24) c.1024del (p.His342MetfsTer24) c.*879del (n.*879del) n.254del c.1150del (p.His384MetfsTer24) n.1147del c.1133del c.961del (p.His321MetfsTer24) | dbSNP |
| 4 | g.73418259C>A | CA357245090 | ALB | c.1600C>A (p.His534Asn) c.1255C>A (p.His419Asn) c.1024C>A (p.His342Asn) c.*879C>A (n.*879C>A) n.254C>A c.1150C>A (p.His384Asn) n.1147C>A c.1133C>A c.961C>A (p.His321Asn) | dbSNP |
| 4 | g.73418259C>G | CA357245094 | ALB | c.1600C>G (p.His534Asp) c.1255C>G (p.His419Asp) c.1024C>G (p.His342Asp) c.*879C>G (n.*879C>G) n.254C>G c.1150C>G (p.His384Asp) n.1147C>G c.1133C>G c.961C>G (p.His321Asp) | dbSNP |
| 4 | g.73418259C>T | CA357245100 | ALB | c.1600C>T (p.His534Tyr) c.1255C>T (p.His419Tyr) c.1024C>T (p.His342Tyr) c.*879C>T (n.*879C>T) n.254C>T c.1150C>T (p.His384Tyr) n.1147C>T c.1133C>T c.961C>T (p.His321Tyr) | dbSNP |
| 4 | g.73418260A= | CA1468146944 | ALB | c.1601A= (p.His534=) c.1256A= (p.His419=) c.1025A= (p.His342=) c.*880A= (n.*880A=) n.255A= c.1151A= (p.His384=) n.1148A= c.1134A= c.962A= (p.His321=) | |
| 4 | g.73418260A>C | CA357245107 | ALB | c.1601A>C (p.His534Pro) c.1256A>C (p.His419Pro) c.1025A>C (p.His342Pro) c.*880A>C (n.*880A>C) n.255A>C c.1151A>C (p.His384Pro) n.1148A>C c.1134A>C c.962A>C (p.His321Pro) | gnomAD v4 |
| 4 | g.73418260A>G | CA2959691 | ALB | c.1601A>G (p.His534Arg) c.1256A>G (p.His419Arg) c.1025A>G (p.His342Arg) c.*880A>G (n.*880A>G) n.255A>G c.1151A>G (p.His384Arg) n.1148A>G c.1134A>G c.962A>G (p.His321Arg) | dbSNP ExAC gnomAD v4 |
| 4 | g.73418260A>T | CA357245102 | ALB | c.1601A>T (p.His534Leu) c.1256A>T (p.His419Leu) c.1025A>T (p.His342Leu) c.*880A>T (n.*880A>T) n.255A>T c.1151A>T (p.His384Leu) n.1148A>T c.1134A>T c.962A>T (p.His321Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.73418265_73418274dup | CA645517865 | ALB | c.1606_1615dup (p.Thr539ArgfsTer7) c.1261_1270dup (p.Thr424ArgfsTer7) c.1030_1039dup (p.Thr347ArgfsTer7) c.*885_*894dup (n.*885_*894dup) n.260_269dup c.1156_1165dup (p.Thr389ArgfsTer7) n.1153_1162dup c.1139_1148dup c.967_976dup (p.Thr326ArgfsTer7) | COSMIC |
| 4 | g.73418260_73418261insATGCAGATAT | CA645517866 | ALB | c.1601_1602insATGCAGATAT (p.His534GlnfsTer12) c.1256_1257insATGCAGATAT (p.His419GlnfsTer12) c.1025_1026insATGCAGATAT (p.His342GlnfsTer12) c.*880_*881insATGCAGATAT (n.*880_*881insATGCAGATAT) n.255_256insATGCAGATAT c.1151_1152insATGCAGATAT (p.His384GlnfsTer12) n.1148_1149insATGCAGATAT c.1134_1135insATGCAGATAT c.962_963insATGCAGATAT (p.His321GlnfsTer12) | COSMIC |
| 4 | g.73418261T>A | CA357245113 | ALB | c.1602T>A (p.His534Gln) c.1257T>A (p.His419Gln) c.1026T>A (p.His342Gln) c.*881T>A (n.*881T>A) n.256T>A c.1152T>A (p.His384Gln) n.1149T>A c.1135T>A c.963T>A (p.His321Gln) | dbSNP |
| 4 | g.73418261T>C | CA439948416 | ALB | c.1602T>C (p.His534=) c.1257T>C (p.His419=) c.1026T>C (p.His342=) c.*881T>C (n.*881T>C) n.256T>C c.1152T>C (p.His384=) n.1149T>C c.1135T>C c.963T>C (p.His321=) | |
| 4 | g.73418261T>G | CA357245111 | ALB | c.1602T>G (p.His534Gln) c.1257T>G (p.His419Gln) c.1026T>G (p.His342Gln) c.*881T>G (n.*881T>G) n.256T>G c.1152T>G (p.His384Gln) n.1149T>G c.1135T>G c.963T>G (p.His321Gln) | |
| 4 | g.73418262G>A | CA2959692 | ALB | c.1603G>A (p.Ala535Thr) c.1258G>A (p.Ala420Thr) c.1027G>A (p.Ala343Thr) c.*882G>A (n.*882G>A) n.257G>A c.1153G>A (p.Ala385Thr) n.1150G>A c.1136G>A c.964G>A (p.Ala322Thr) | dbSNP ExAC gnomAD v2 |
| 4 | g.73418262G>C | CA357245116 | ALB | c.1603G>C (p.Ala535Pro) c.1258G>C (p.Ala420Pro) c.1027G>C (p.Ala343Pro) c.*882G>C (n.*882G>C) n.257G>C c.1153G>C (p.Ala385Pro) n.1150G>C c.1136G>C c.964G>C (p.Ala322Pro) | dbSNP |
| 4 | g.73418262G= | CA1468146948 | ALB | c.1603G= (p.Ala535=) c.1258G= (p.Ala420=) c.1027G= (p.Ala343=) c.*882G= (n.*882G=) n.257G= c.1153G= (p.Ala385=) n.1150G= c.1136G= c.964G= (p.Ala322=) | |
| 4 | g.73418262G>T | CA357245120 | ALB | c.1603G>T (p.Ala535Ser) c.1258G>T (p.Ala420Ser) c.1027G>T (p.Ala343Ser) c.*882G>T (n.*882G>T) n.257G>T c.1153G>T (p.Ala385Ser) n.1150G>T c.1136G>T c.964G>T (p.Ala322Ser) | dbSNP |
| 4 | g.73418263C>A | CA357245126 | ALB | c.1604C>A (p.Ala535Glu) c.1259C>A (p.Ala420Glu) c.1028C>A (p.Ala343Glu) c.*883C>A (n.*883C>A) n.258C>A c.1154C>A (p.Ala385Glu) n.1151C>A c.1137C>A c.965C>A (p.Ala322Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.73418263C= | CA1468146951 | ALB | c.1604C= (p.Ala535=) c.1259C= (p.Ala420=) c.1028C= (p.Ala343=) c.*883C= (n.*883C=) n.258C= c.1154C= (p.Ala385=) n.1151C= c.1137C= c.965C= (p.Ala322=) | |
| 4 | g.73418263C>G | CA357245129 | ALB | c.1604C>G (p.Ala535Gly) c.1259C>G (p.Ala420Gly) c.1028C>G (p.Ala343Gly) c.*883C>G (n.*883C>G) n.258C>G c.1154C>G (p.Ala385Gly) n.1151C>G c.1137C>G c.965C>G (p.Ala322Gly) | dbSNP |
| 4 | g.73418263C>T | CA357245132 | ALB | c.1604C>T (p.Ala535Val) c.1259C>T (p.Ala420Val) c.1028C>T (p.Ala343Val) c.*883C>T (n.*883C>T) n.258C>T c.1154C>T (p.Ala385Val) n.1151C>T c.1137C>T c.965C>T (p.Ala322Val) | dbSNP |
| 4 | g.73418264A= | CA1468146953 | ALB | c.1605A= (p.Ala535=) c.1260A= (p.Ala420=) c.1029A= (p.Ala343=) c.*884A= (n.*884A=) n.259A= c.1155A= (p.Ala385=) n.1152A= c.1138A= c.966A= (p.Ala322=) | |
| 4 | g.73418264A>C | CA439948417 | ALB | c.1605A>C (p.Ala535=) c.1260A>C (p.Ala420=) c.1029A>C (p.Ala343=) c.*884A>C (n.*884A>C) n.259A>C c.1155A>C (p.Ala385=) n.1152A>C c.1138A>C c.966A>C (p.Ala322=) | |
| 4 | g.73418264A>G | CA439948418 | ALB | c.1605A>G (p.Ala535=) c.1260A>G (p.Ala420=) c.1029A>G (p.Ala343=) c.*884A>G (n.*884A>G) n.259A>G c.1155A>G (p.Ala385=) n.1152A>G c.1138A>G c.966A>G (p.Ala322=) | dbSNP |
| 4 | g.73418264A>T | CA439948419 | ALB | c.1605A>T (p.Ala535=) c.1260A>T (p.Ala420=) c.1029A>T (p.Ala343=) c.*884A>T (n.*884A>T) n.259A>T c.1155A>T (p.Ala385=) n.1152A>T c.1138A>T c.966A>T (p.Ala322=) | dbSNP |
| 4 | g.73418265G>A | CA357245140 | ALB | c.1606G>A (p.Asp536Asn) c.1261G>A (p.Asp421Asn) c.1030G>A (p.Asp344Asn) c.*885G>A (n.*885G>A) n.260G>A c.1156G>A (p.Asp386Asn) n.1153G>A c.1139G>A c.967G>A (p.Asp323Asn) | |
| 4 | g.73418265G>C | CA357245138 | ALB | c.1606G>C (p.Asp536His) c.1261G>C (p.Asp421His) c.1030G>C (p.Asp344His) c.*885G>C (n.*885G>C) n.260G>C c.1156G>C (p.Asp386His) n.1153G>C c.1139G>C c.967G>C (p.Asp323His) | gnomAD v4 |
| 4 | g.73418265G>T | CA357245136 | ALB | c.1606G>T (p.Asp536Tyr) c.1261G>T (p.Asp421Tyr) c.1030G>T (p.Asp344Tyr) c.*885G>T (n.*885G>T) n.260G>T c.1156G>T (p.Asp386Tyr) n.1153G>T c.1139G>T c.967G>T (p.Asp323Tyr) | gnomAD v4 |
| 4 | g.73418265_73418266delinsGA | CA1468146955 | ALB | c.1606_1607delinsGA (p.Asp536=) c.1261_1262delinsGA (p.Asp421=) c.1030_1031delinsGA (p.Asp344=) c.*885_*886delinsGA (n.*885_*886delinsGA) n.260_261delinsGA c.1156_1157delinsGA (p.Asp386=) n.1153_1154delinsGA c.1139_1140delinsGA c.967_968delinsGA (p.Asp323=) | |
| 4 | g.73418266del | CA1468146957 | ALB | c.1607del (p.Asp536ValfsTer22) c.1262del (p.Asp421ValfsTer22) c.1031del (p.Asp344ValfsTer22) c.*886del (n.*886del) n.261del c.1157del (p.Asp386ValfsTer22) n.1154del c.1140del c.968del (p.Asp323ValfsTer22) | dbSNP |
| 4 | g.73418266A>C | CA357245143 | ALB | c.1607A>C (p.Asp536Ala) c.1262A>C (p.Asp421Ala) c.1031A>C (p.Asp344Ala) c.*886A>C (n.*886A>C) n.261A>C c.1157A>C (p.Asp386Ala) n.1154A>C c.1140A>C c.968A>C (p.Asp323Ala) | |
| 4 | g.73418266A>G | CA357245146 | ALB | c.1607A>G (p.Asp536Gly) c.1262A>G (p.Asp421Gly) c.1031A>G (p.Asp344Gly) c.*886A>G (n.*886A>G) n.261A>G c.1157A>G (p.Asp386Gly) n.1154A>G c.1140A>G c.968A>G (p.Asp323Gly) | |
| 4 | g.73418266A>T | CA357245149 | ALB | c.1607A>T (p.Asp536Val) c.1262A>T (p.Asp421Val) c.1031A>T (p.Asp344Val) c.*886A>T (n.*886A>T) n.261A>T c.1157A>T (p.Asp386Val) n.1154A>T c.1140A>T c.968A>T (p.Asp323Val) | |
| 4 | g.73418267T>A | CA357245153 | ALB | c.1608T>A (p.Asp536Glu) c.1263T>A (p.Asp421Glu) c.1032T>A (p.Asp344Glu) c.*887T>A (n.*887T>A) n.262T>A c.1158T>A (p.Asp386Glu) n.1155T>A c.1141T>A c.969T>A (p.Asp323Glu) | dbSNP |
| 4 | g.73418267T>C | CA2959693 | ALB | c.1608T>C (p.Asp536=) c.1263T>C (p.Asp421=) c.1032T>C (p.Asp344=) c.*887T>C (n.*887T>C) n.262T>C c.1158T>C (p.Asp386=) n.1155T>C c.1141T>C c.969T>C (p.Asp323=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.73418267T>G | CA357245161 | ALB | c.1608T>G (p.Asp536Glu) c.1263T>G (p.Asp421Glu) c.1032T>G (p.Asp344Glu) c.*887T>G (n.*887T>G) n.262T>G c.1158T>G (p.Asp386Glu) n.1155T>G c.1141T>G c.969T>G (p.Asp323Glu) | |
| 4 | g.73418267T= | CA1468146961 | ALB | c.1608T= (p.Asp536=) c.1263T= (p.Asp421=) c.1032T= (p.Asp344=) c.*887T= (n.*887T=) n.262T= c.1158T= (p.Asp386=) n.1155T= c.1141T= c.969T= (p.Asp323=) | |
| 4 | g.73418268A>C | CA357245163 | ALB | c.1609A>C (p.Ile537Leu) c.1264A>C (p.Ile422Leu) c.1033A>C (p.Ile345Leu) c.*888A>C (n.*888A>C) n.263A>C c.1159A>C (p.Ile387Leu) n.1156A>C c.1142A>C c.970A>C (p.Ile324Leu) | |
| 4 | g.73418268A>G | CA357245165 | ALB | c.1609A>G (p.Ile537Val) c.1264A>G (p.Ile422Val) c.1033A>G (p.Ile345Val) c.*888A>G (n.*888A>G) n.263A>G c.1159A>G (p.Ile387Val) n.1156A>G c.1142A>G c.970A>G (p.Ile324Val) | COSMIC |
| 4 | g.73418268A>T | CA357245164 | ALB | c.1609A>T (p.Ile537Leu) c.1264A>T (p.Ile422Leu) c.1033A>T (p.Ile345Leu) c.*888A>T (n.*888A>T) n.263A>T c.1159A>T (p.Ile387Leu) n.1156A>T c.1142A>T c.970A>T (p.Ile324Leu) | |
| 4 | g.73418268_73418269delinsAT | CA1468146966 | ALB | c.1609_1610delinsAT (p.Ile537=) c.1264_1265delinsAT (p.Ile422=) c.1033_1034delinsAT (p.Ile345=) c.*888_*889delinsAT (n.*888_*889delinsAT) n.263_264delinsAT c.1159_1160delinsAT (p.Ile387=) n.1156_1157delinsAT c.1142_1143delinsAT c.970_971delinsAT (p.Ile324=) | |
| 4 | g.73418269del | CA170815 | ALB | c.1610del (p.Ile537AsnfsTer21) c.1265del (p.Ile422AsnfsTer21) c.1034del (p.Ile345AsnfsTer21) c.*889del (n.*889del) n.264del c.1160del (p.Ile387AsnfsTer21) n.1157del c.1143del c.971del (p.Ile324AsnfsTer21) | ClinVar dbSNP |
| 4 | g.73418269T>A | CA357245166 | ALB | c.1610T>A (p.Ile537Lys) c.1265T>A (p.Ile422Lys) c.1034T>A (p.Ile345Lys) c.*889T>A (n.*889T>A) n.264T>A c.1160T>A (p.Ile387Lys) n.1157T>A c.1143T>A c.971T>A (p.Ile324Lys) | dbSNP |