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.55059532dup | CA523275566 | PCSK9 | c.1550dup (p.Glu518Ter) c.1907dup (p.Glu637Ter) c.1175dup (p.Glu393Ter) c.290dup (p.Glu98Ter) n.2227+885dup n.1157dup c.671dup (p.Glu225Ter) | gnomAD v2 |
| 1 | g.55059532del | CA2645841032 | PCSK9 | c.1550del (p.Gly517ValfsTer?) c.1907del (p.Gly636ValfsTer?) c.1175del (p.Gly392ValfsTer?) c.290del (p.Gly97ValfsTer?) n.2227+885del n.1157del c.671del (p.Gly224ValfsTer?) | gnomAD v4 |
| 1 | g.55059529G>A | CA340479777 | PCSK9 | c.1547G>A (p.Gly516Glu) c.1904G>A (p.Gly635Glu) c.1172G>A (p.Gly391Glu) c.287G>A (p.Gly96Glu) n.2227+882G>A n.1154G>A c.668G>A (p.Gly223Glu) | ClinVar dbSNP gnomAD v4 |
| 1 | g.55059529G>C | CA340479779 | PCSK9 | c.1547G>C (p.Gly516Ala) c.1904G>C (p.Gly635Ala) c.1172G>C (p.Gly391Ala) c.287G>C (p.Gly96Ala) n.2227+882G>C n.1154G>C c.668G>C (p.Gly223Ala) | dbSNP |
| 1 | g.55059529G= | CA1167984898 | PCSK9 | c.1547G= (p.Gly516=) c.1904G= (p.Gly635=) c.1172G= (p.Gly391=) c.287G= (p.Gly96=) n.2227+882G= n.1154G= c.668G= (p.Gly223=) | |
| 1 | g.55059529G>T | CA22765521 | PCSK9 | c.1547G>T (p.Gly516Val) c.1904G>T (p.Gly635Val) c.1172G>T (p.Gly391Val) c.287G>T (p.Gly96Val) n.2227+882G>T n.1154G>T c.668G>T (p.Gly223Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55059530G>A | CA037949 | PCSK9 | c.1548G>A (p.Gly516=) c.1905G>A (p.Gly635=) c.1173G>A (p.Gly391=) c.288G>A (p.Gly96=) n.2227+883G>A n.1155G>A c.669G>A (p.Gly223=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.55059530G>C | CA417960384 | PCSK9 | c.1548G>C (p.Gly516=) c.1905G>C (p.Gly635=) c.1173G>C (p.Gly391=) c.288G>C (p.Gly96=) n.2227+883G>C n.1155G>C c.669G>C (p.Gly223=) | |
| 1 | g.55059530G= | CA1146519216 | PCSK9 | c.1548G= (p.Gly516=) c.1905G= (p.Gly635=) c.1173G= (p.Gly391=) c.288G= (p.Gly96=) n.2227+883G= n.1155G= c.669G= (p.Gly223=) | |
| 1 | g.55059530G>T | CA417960383 | PCSK9 | c.1548G>T (p.Gly516=) c.1905G>T (p.Gly635=) c.1173G>T (p.Gly391=) c.288G>T (p.Gly96=) n.2227+883G>T n.1155G>T c.669G>T (p.Gly223=) | gnomAD v4 |
| 1 | g.55059531G>A | CA340479787 | PCSK9 | c.1549G>A (p.Gly517Ser) c.1906G>A (p.Gly636Ser) c.1174G>A (p.Gly392Ser) c.289G>A (p.Gly97Ser) n.2227+884G>A n.1156G>A c.670G>A (p.Gly224Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.55059531G>C | CA340479783 | PCSK9 | c.1549G>C (p.Gly517Arg) c.1906G>C (p.Gly636Arg) c.1174G>C (p.Gly392Arg) c.289G>C (p.Gly97Arg) n.2227+884G>C n.1156G>C c.670G>C (p.Gly224Arg) | |
| 1 | g.55059531G= | CA1167984899 | PCSK9 | c.1549G= (p.Gly517=) c.1906G= (p.Gly636=) c.1174G= (p.Gly392=) c.289G= (p.Gly97=) n.2227+884G= n.1156G= c.670G= (p.Gly224=) | |
| 1 | g.55059531G>T | CA340479785 | PCSK9 | c.1549G>T (p.Gly517Cys) c.1906G>T (p.Gly636Cys) c.1174G>T (p.Gly392Cys) c.289G>T (p.Gly97Cys) n.2227+884G>T n.1156G>T c.670G>T (p.Gly224Cys) | gnomAD v4 |
| 1 | g.55059532G>A | CA340479789 | PCSK9 | c.1550G>A (p.Gly517Asp) c.1907G>A (p.Gly636Asp) c.1175G>A (p.Gly392Asp) c.290G>A (p.Gly97Asp) n.2227+885G>A n.1157G>A c.671G>A (p.Gly224Asp) | gnomAD v4 |
| 1 | g.55059532G>C | CA340479790 | PCSK9 | c.1550G>C (p.Gly517Ala) c.1907G>C (p.Gly636Ala) c.1175G>C (p.Gly392Ala) c.290G>C (p.Gly97Ala) n.2227+885G>C n.1157G>C c.671G>C (p.Gly224Ala) | gnomAD v4 |
| 1 | g.55059532G= | CA1167984900 | PCSK9 | c.1550G= (p.Gly517=) c.1907G= (p.Gly636=) c.1175G= (p.Gly392=) c.290G= (p.Gly97=) n.2227+885G= n.1157G= c.671G= (p.Gly224=) | |
| 1 | g.55059532G>T | CA340479792 | PCSK9 | c.1550G>T (p.Gly517Val) c.1907G>T (p.Gly636Val) c.1175G>T (p.Gly392Val) c.290G>T (p.Gly97Val) n.2227+885G>T n.1157G>T c.671G>T (p.Gly224Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.55059533T>A | CA417960385 | PCSK9 | c.1551T>A (p.Gly517=) c.1908T>A (p.Gly636=) c.1176T>A (p.Gly392=) c.291T>A (p.Gly97=) n.2227+886T>A n.1158T>A c.672T>A (p.Gly224=) | gnomAD v4 |
| 1 | g.55059533T>C | CA417960386 | PCSK9 | c.1551T>C (p.Gly517=) c.1908T>C (p.Gly636=) c.1176T>C (p.Gly392=) c.291T>C (p.Gly97=) n.2227+886T>C n.1158T>C c.672T>C (p.Gly224=) | |
| 1 | g.55059533T>G | CA417960387 | PCSK9 | c.1551T>G (p.Gly517=) c.1908T>G (p.Gly636=) c.1176T>G (p.Gly392=) c.291T>G (p.Gly97=) n.2227+886T>G n.1158T>G c.672T>G (p.Gly224=) | dbSNP |
| 1 | g.55059533T= | CA1167984901 | PCSK9 | c.1551T= (p.Gly517=) c.1908T= (p.Gly636=) c.1176T= (p.Gly392=) c.291T= (p.Gly97=) n.2227+886T= n.1158T= c.672T= (p.Gly224=) | |
| 1 | g.55059534G>A | CA340479794 | PCSK9 | c.1552G>A (p.Glu518Lys) c.1909G>A (p.Glu637Lys) c.1177G>A (p.Glu393Lys) c.292G>A (p.Glu98Lys) n.2227+887G>A n.1159G>A c.673G>A (p.Glu225Lys) | gnomAD v4 |
| 1 | g.55059534G>C | CA340479796 | PCSK9 | c.1552G>C (p.Glu518Gln) c.1909G>C (p.Glu637Gln) c.1177G>C (p.Glu393Gln) c.292G>C (p.Glu98Gln) n.2227+887G>C n.1159G>C c.673G>C (p.Glu225Gln) | |
| 1 | g.55059534G>T | CA340479797 | PCSK9 | c.1552G>T (p.Glu518Ter) c.1909G>T (p.Glu637Ter) c.1177G>T (p.Glu393Ter) c.292G>T (p.Glu98Ter) n.2227+887G>T n.1159G>T c.673G>T (p.Glu225Ter) | gnomAD v4 |
| 1 | g.55059535A= | CA1167984902 | PCSK9 | c.1553A= (p.Glu518=) c.1910A= (p.Glu637=) c.1178A= (p.Glu393=) c.293A= (p.Glu98=) n.2227+888A= n.1160A= c.674A= (p.Glu225=) | |
| 1 | g.55059535A>C | CA340479798 | PCSK9 | c.1553A>C (p.Glu518Ala) c.1910A>C (p.Glu637Ala) c.1178A>C (p.Glu393Ala) c.293A>C (p.Glu98Ala) n.2227+888A>C n.1160A>C c.674A>C (p.Glu225Ala) | |
| 1 | g.55059535A>G | CA340479799 | PCSK9 | c.1553A>G (p.Glu518Gly) c.1910A>G (p.Glu637Gly) c.1178A>G (p.Glu393Gly) c.293A>G (p.Glu98Gly) n.2227+888A>G n.1160A>G c.674A>G (p.Glu225Gly) | gnomAD v4 |
| 1 | g.55059535A>T | CA22765534 | PCSK9 | c.1553A>T (p.Glu518Val) c.1910A>T (p.Glu637Val) c.1178A>T (p.Glu393Val) c.293A>T (p.Glu98Val) n.2227+888A>T n.1160A>T c.674A>T (p.Glu225Val) | dbSNP gnomAD v4 |
| 1 | g.55059536G>A | CA417960388 | PCSK9 | c.1554G>A (p.Glu518=) c.1911G>A (p.Glu637=) c.1179G>A (p.Glu393=) c.294G>A (p.Glu98=) n.2227+889G>A n.1161G>A c.675G>A (p.Glu225=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.55059536G>C | CA340479801 | PCSK9 | c.1554G>C (p.Glu518Asp) c.1911G>C (p.Glu637Asp) c.1179G>C (p.Glu393Asp) c.294G>C (p.Glu98Asp) n.2227+889G>C n.1161G>C c.675G>C (p.Glu225Asp) | |
| 1 | g.55059536G= | CA1167984903 | PCSK9 | c.1554G= (p.Glu518=) c.1911G= (p.Glu637=) c.1179G= (p.Glu393=) c.294G= (p.Glu98=) n.2227+889G= n.1161G= c.675G= (p.Glu225=) | |
| 1 | g.55059536G>T | CA340479803 | PCSK9 | c.1554G>T (p.Glu518Asp) c.1911G>T (p.Glu637Asp) c.1179G>T (p.Glu393Asp) c.294G>T (p.Glu98Asp) n.2227+889G>T n.1161G>T c.675G>T (p.Glu225Asp) | gnomAD v4 |
| 1 | g.55059537G>A | CA340479808 | PCSK9 | c.1555G>A (p.Gly519Ser) c.1912G>A (p.Gly638Ser) c.1180G>A (p.Gly394Ser) c.295G>A (p.Gly99Ser) n.2227+890G>A n.1162G>A c.676G>A (p.Gly226Ser) | ClinVar dbSNP gnomAD v4 |
| 1 | g.55059537G>C | CA340479806 | PCSK9 | c.1555G>C (p.Gly519Arg) c.1912G>C (p.Gly638Arg) c.1180G>C (p.Gly394Arg) c.295G>C (p.Gly99Arg) n.2227+890G>C n.1162G>C c.676G>C (p.Gly226Arg) | |
| 1 | g.55059537G>T | CA340479805 | PCSK9 | c.1555G>T (p.Gly519Cys) c.1912G>T (p.Gly638Cys) c.1180G>T (p.Gly394Cys) c.295G>T (p.Gly99Cys) n.2227+890G>T n.1162G>T c.676G>T (p.Gly226Cys) | gnomAD v4 |
| 1 | g.55059538G>A | CA037961 | PCSK9 | c.1556G>A (p.Gly519Asp) c.1913G>A (p.Gly638Asp) c.1181G>A (p.Gly394Asp) c.296G>A (p.Gly99Asp) n.2227+891G>A n.1163G>A c.677G>A (p.Gly226Asp) | dbSNP ExAC gnomAD v4 |
| 1 | g.55059538G>C | CA340479811 | PCSK9 | c.1556G>C (p.Gly519Ala) c.1913G>C (p.Gly638Ala) c.1181G>C (p.Gly394Ala) c.296G>C (p.Gly99Ala) n.2227+891G>C n.1163G>C c.677G>C (p.Gly226Ala) | |
| 1 | g.55059538G= | CA1167984904 | PCSK9 | c.1556G= (p.Gly519=) c.1913G= (p.Gly638=) c.1181G= (p.Gly394=) c.296G= (p.Gly99=) n.2227+891G= n.1163G= c.677G= (p.Gly226=) | |
| 1 | g.55059538G>T | CA340479813 | PCSK9 | c.1556G>T (p.Gly519Val) c.1913G>T (p.Gly638Val) c.1181G>T (p.Gly394Val) c.296G>T (p.Gly99Val) n.2227+891G>T n.1163G>T c.677G>T (p.Gly226Val) | gnomAD v4 |
| 1 | g.55059539T>A | CA417960390 | PCSK9 | c.1557T>A (p.Gly519=) c.1914T>A (p.Gly638=) c.1182T>A (p.Gly394=) c.297T>A (p.Gly99=) n.2227+892T>A n.1164T>A c.678T>A (p.Gly226=) | gnomAD v4 |
| 1 | g.55059539T>C | CA037983 | PCSK9 | c.1557T>C (p.Gly519=) c.1914T>C (p.Gly638=) c.1182T>C (p.Gly394=) c.297T>C (p.Gly99=) n.2227+892T>C n.1164T>C c.678T>C (p.Gly226=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55059539T>G | CA417960391 | PCSK9 | c.1557T>G (p.Gly519=) c.1914T>G (p.Gly638=) c.1182T>G (p.Gly394=) c.297T>G (p.Gly99=) n.2227+892T>G n.1164T>G c.678T>G (p.Gly226=) | |
| 1 | g.55059539T= | CA1143552723 | PCSK9 | c.1557T= (p.Gly519=) c.1914T= (p.Gly638=) c.1182T= (p.Gly394=) c.297T= (p.Gly99=) n.2227+892T= n.1164T= c.678T= (p.Gly226=) | |
| 1 | g.55059540G>A | CA340479816 | PCSK9 | c.1558G>A (p.Val520Ile) c.1915G>A (p.Val639Ile) c.1183G>A (p.Val395Ile) c.298G>A (p.Val100Ile) n.2227+893G>A n.1165G>A c.679G>A (p.Val227Ile) | gnomAD v4 |
| 1 | g.55059540G>C | CA340479818 | PCSK9 | c.1558G>C (p.Val520Leu) c.1915G>C (p.Val639Leu) c.1183G>C (p.Val395Leu) c.298G>C (p.Val100Leu) n.2227+893G>C n.1165G>C c.679G>C (p.Val227Leu) | |
| 1 | g.55059540G>T | CA340479820 | PCSK9 | c.1558G>T (p.Val520Phe) c.1915G>T (p.Val639Phe) c.1183G>T (p.Val395Phe) c.298G>T (p.Val100Phe) n.2227+893G>T n.1165G>T c.679G>T (p.Val227Phe) | gnomAD v4 |
| 1 | g.55059541T>A | CA340479822 | PCSK9 | c.1559T>A (p.Val520Asp) c.1916T>A (p.Val639Asp) c.1184T>A (p.Val395Asp) c.299T>A (p.Val100Asp) n.2227+894T>A n.1166T>A c.680T>A (p.Val227Asp) | |
| 1 | g.55059541T>C | CA340479826 | PCSK9 | c.1559T>C (p.Val520Ala) c.1916T>C (p.Val639Ala) c.1184T>C (p.Val395Ala) c.299T>C (p.Val100Ala) n.2227+894T>C n.1166T>C c.680T>C (p.Val227Ala) | gnomAD v4 |
| 1 | g.55059541T>G | CA340479824 | PCSK9 | c.1559T>G (p.Val520Gly) c.1916T>G (p.Val639Gly) c.1184T>G (p.Val395Gly) c.299T>G (p.Val100Gly) n.2227+894T>G n.1166T>G c.680T>G (p.Val227Gly) |