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.55058545_55058557del | CA523275548 | PCSK9 | c.1401_1413del (p.Thr468GlnfsTer13) c.1758_1770del (p.Thr587GlnfsTer13) c.1026_1038del (p.Thr343GlnfsTer13) c.141_153del (p.Thr48GlnfsTer13) n.2125_2137del n.1008_1020del c.522_534del (p.Thr175GlnfsTer13) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.55058555G>A | CA340478856 | PCSK9 | c.1411G>A (p.Ala471Thr) c.1768G>A (p.Ala590Thr) c.1036G>A (p.Ala346Thr) c.151G>A (p.Ala51Thr) n.2135G>A n.1018G>A c.532G>A (p.Ala178Thr) | |
| 1 | g.55058555G>C | CA340478858 | PCSK9 | c.1411G>C (p.Ala471Pro) c.1768G>C (p.Ala590Pro) c.1036G>C (p.Ala346Pro) c.151G>C (p.Ala51Pro) n.2135G>C n.1018G>C c.532G>C (p.Ala178Pro) | |
| 1 | g.55058555G= | CA1167984425 | PCSK9 | c.1411G= (p.Ala471=) c.1768G= (p.Ala590=) c.1036G= (p.Ala346=) c.151G= (p.Ala51=) n.2135G= n.1018G= c.532G= (p.Ala178=) | |
| 1 | g.55058555G>T | CA340478861 | PCSK9 | c.1411G>T (p.Ala471Ser) c.1768G>T (p.Ala590Ser) c.1036G>T (p.Ala346Ser) c.151G>T (p.Ala51Ser) n.2135G>T n.1018G>T c.532G>T (p.Ala178Ser) | ClinVar dbSNP |
| 1 | g.55058556C>A | CA340478864 | PCSK9 | c.1412C>A (p.Ala471Asp) c.1769C>A (p.Ala590Asp) c.1037C>A (p.Ala346Asp) c.152C>A (p.Ala51Asp) n.2136C>A n.1019C>A c.533C>A (p.Ala178Asp) | gnomAD v4 |
| 1 | g.55058556C= | CA1167984426 | PCSK9 | c.1412C= (p.Ala471=) c.1769C= (p.Ala590=) c.1037C= (p.Ala346=) c.152C= (p.Ala51=) n.2136C= n.1019C= c.533C= (p.Ala178=) | |
| 1 | g.55058556C>G | CA340478866 | PCSK9 | c.1412C>G (p.Ala471Gly) c.1769C>G (p.Ala590Gly) c.1037C>G (p.Ala346Gly) c.152C>G (p.Ala51Gly) n.2136C>G n.1019C>G c.533C>G (p.Ala178Gly) | |
| 1 | g.55058556C>T | CA340478869 | PCSK9 | c.1412C>T (p.Ala471Val) c.1769C>T (p.Ala590Val) c.1037C>T (p.Ala346Val) c.152C>T (p.Ala51Val) n.2136C>T n.1019C>T c.533C>T (p.Ala178Val) | dbSNP |
| 1 | g.55058557C>A | CA417960289 | PCSK9 | c.1413C>A (p.Ala471=) c.1770C>A (p.Ala590=) c.1038C>A (p.Ala346=) c.153C>A (p.Ala51=) n.2137C>A n.1020C>A c.534C>A (p.Ala178=) | ClinVar dbSNP |
| 1 | g.55058557C= | CA1167984427 | PCSK9 | c.1413C= (p.Ala471=) c.1770C= (p.Ala590=) c.1038C= (p.Ala346=) c.153C= (p.Ala51=) n.2137C= n.1020C= c.534C= (p.Ala178=) | |
| 1 | g.55058557C>G | CA417960290 | PCSK9 | c.1413C>G (p.Ala471=) c.1770C>G (p.Ala590=) c.1038C>G (p.Ala346=) c.153C>G (p.Ala51=) n.2137C>G n.1020C>G c.534C>G (p.Ala178=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.55058557C>T | CA417960291 | PCSK9 | c.1413C>T (p.Ala471=) c.1770C>T (p.Ala590=) c.1038C>T (p.Ala346=) c.153C>T (p.Ala51=) n.2137C>T n.1020C>T c.534C>T (p.Ala178=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55058558A= | CA1167984428 | PCSK9 | c.1414A= (p.Thr472=) c.1771A= (p.Thr591=) c.1039A= (p.Thr347=) c.154A= (p.Thr52=) n.2138A= n.1021A= c.535A= (p.Thr179=) | |
| 1 | g.55058558A>C | CA340478872 | PCSK9 | c.1414A>C (p.Thr472Pro) c.1771A>C (p.Thr591Pro) c.1039A>C (p.Thr347Pro) c.154A>C (p.Thr52Pro) n.2138A>C n.1021A>C c.535A>C (p.Thr179Pro) | |
| 1 | g.55058558A>G | CA340478874 | PCSK9 | c.1414A>G (p.Thr472Ala) c.1771A>G (p.Thr591Ala) c.1039A>G (p.Thr347Ala) c.154A>G (p.Thr52Ala) n.2138A>G n.1021A>G c.535A>G (p.Thr179Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.55058558A>T | CA340478876 | PCSK9 | c.1414A>T (p.Thr472Ser) c.1771A>T (p.Thr591Ser) c.1039A>T (p.Thr347Ser) c.154A>T (p.Thr52Ser) n.2138A>T n.1021A>T c.535A>T (p.Thr179Ser) | gnomAD v4 |
| 1 | g.55058559C>A | CA340478880 | PCSK9 | c.1415C>A (p.Thr472Lys) c.1772C>A (p.Thr591Lys) c.1040C>A (p.Thr347Lys) c.155C>A (p.Thr52Lys) n.2139C>A n.1022C>A c.536C>A (p.Thr179Lys) | |
| 1 | g.55058559C= | CA1167984429 | PCSK9 | c.1415C= (p.Thr472=) c.1772C= (p.Thr591=) c.1040C= (p.Thr347=) c.155C= (p.Thr52=) n.2139C= n.1022C= c.536C= (p.Thr179=) | |
| 1 | g.55058559C>G | CA340478883 | PCSK9 | c.1415C>G (p.Thr472Arg) c.1772C>G (p.Thr591Arg) c.1040C>G (p.Thr347Arg) c.155C>G (p.Thr52Arg) n.2139C>G n.1022C>G c.536C>G (p.Thr179Arg) | |
| 1 | g.55058559C>T | CA340478878 | PCSK9 | c.1415C>T (p.Thr472Ile) c.1772C>T (p.Thr591Ile) c.1040C>T (p.Thr347Ile) c.155C>T (p.Thr52Ile) n.2139C>T n.1022C>T c.536C>T (p.Thr179Ile) | ClinVar dbSNP |
| 1 | g.55058560A>C | CA417960292 | PCSK9 | c.1416A>C (p.Thr472=) c.1773A>C (p.Thr591=) c.1041A>C (p.Thr347=) c.156A>C (p.Thr52=) n.2140A>C n.1023A>C c.537A>C (p.Thr179=) | |
| 1 | g.55058560A>G | CA417960293 | PCSK9 | c.1416A>G (p.Thr472=) c.1773A>G (p.Thr591=) c.1041A>G (p.Thr347=) c.156A>G (p.Thr52=) n.2140A>G n.1023A>G c.537A>G (p.Thr179=) | ClinVar |
| 1 | g.55058560A>T | CA417960294 | PCSK9 | c.1416A>T (p.Thr472=) c.1773A>T (p.Thr591=) c.1041A>T (p.Thr347=) c.156A>T (p.Thr52=) n.2140A>T n.1023A>T c.537A>T (p.Thr179=) | |
| 1 | g.55058561G>A | CA340478899 | PCSK9 | c.1417G>A (p.Ala473Thr) c.1774G>A (p.Ala592Thr) c.1042G>A (p.Ala348Thr) c.157G>A (p.Ala53Thr) n.2141G>A n.1024G>A c.538G>A (p.Ala180Thr) | |
| 1 | g.55058561G>C | CA340478886 | PCSK9 | c.1417G>C (p.Ala473Pro) c.1774G>C (p.Ala592Pro) c.1042G>C (p.Ala348Pro) c.157G>C (p.Ala53Pro) n.2141G>C n.1024G>C c.538G>C (p.Ala180Pro) | |
| 1 | g.55058561G>T | CA340478896 | PCSK9 | c.1417G>T (p.Ala473Ser) c.1774G>T (p.Ala592Ser) c.1042G>T (p.Ala348Ser) c.157G>T (p.Ala53Ser) n.2141G>T n.1024G>T c.538G>T (p.Ala180Ser) | |
| 1 | g.55058562C>A | CA340478903 | PCSK9 | c.1418C>A (p.Ala473Asp) c.1775C>A (p.Ala592Asp) c.1043C>A (p.Ala348Asp) c.158C>A (p.Ala53Asp) n.2142C>A n.1025C>A c.539C>A (p.Ala180Asp) | |
| 1 | g.55058562C>G | CA340478905 | PCSK9 | c.1418C>G (p.Ala473Gly) c.1775C>G (p.Ala592Gly) c.1043C>G (p.Ala348Gly) c.158C>G (p.Ala53Gly) n.2142C>G n.1025C>G c.539C>G (p.Ala180Gly) | |
| 1 | g.55058562C>T | CA340478907 | PCSK9 | c.1418C>T (p.Ala473Val) c.1775C>T (p.Ala592Val) c.1043C>T (p.Ala348Val) c.158C>T (p.Ala53Val) n.2142C>T n.1025C>T c.539C>T (p.Ala180Val) | |
| 1 | g.55058563C>A | CA417960295 | PCSK9 | c.1419C>A (p.Ala473=) c.1776C>A (p.Ala592=) c.1044C>A (p.Ala348=) c.159C>A (p.Ala53=) n.2143C>A n.1026C>A c.540C>A (p.Ala180=) | |
| 1 | g.55058563C= | CA1167984430 | PCSK9 | c.1419C= (p.Ala473=) c.1776C= (p.Ala592=) c.1044C= (p.Ala348=) c.159C= (p.Ala53=) n.2143C= n.1026C= c.540C= (p.Ala180=) | |
| 1 | g.55058563C>G | CA417960296 | PCSK9 | c.1419C>G (p.Ala473=) c.1776C>G (p.Ala592=) c.1044C>G (p.Ala348=) c.159C>G (p.Ala53=) n.2143C>G n.1026C>G c.540C>G (p.Ala180=) | |
| 1 | g.55058563C>T | CA036861 | PCSK9 | c.1419C>T (p.Ala473=) c.1776C>T (p.Ala592=) c.1044C>T (p.Ala348=) c.159C>T (p.Ala53=) n.2143C>T n.1026C>T c.540C>T (p.Ala180=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.55058564G>A | CA023122 | PCSK9 | c.1420G>A (p.Val474Ile) c.1777G>A (p.Val593Ile) c.1045G>A (p.Val349Ile) c.160G>A (p.Val54Ile) n.2144G>A n.1027G>A c.541G>A (p.Val181Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55058564G>C | CA340478911 | PCSK9 | c.1420G>C (p.Val474Leu) c.1777G>C (p.Val593Leu) c.1045G>C (p.Val349Leu) c.160G>C (p.Val54Leu) n.2144G>C n.1027G>C c.541G>C (p.Val181Leu) | |
| 1 | g.55058564G= | CA1139809151 | PCSK9 | c.1420G= (p.Val474=) c.1777G= (p.Val593=) c.1045G= (p.Val349=) c.160G= (p.Val54=) n.2144G= n.1027G= c.541G= (p.Val181=) | |
| 1 | g.55058564G>T | CA340478913 | PCSK9 | c.1420G>T (p.Val474Phe) c.1777G>T (p.Val593Phe) c.1045G>T (p.Val349Phe) c.160G>T (p.Val54Phe) n.2144G>T n.1027G>T c.541G>T (p.Val181Phe) | |
| 1 | g.55058564_55058566delinsATT | CA1139656140 | PCSK9 | c.1420_1422delinsATT (p.Val474Ile) c.1777_1779delinsATT (p.Val593Ile) c.1045_1047delinsATT (p.Val349Ile) c.160_162delinsATT (p.Val54Ile) n.2144_2146delinsATT n.1027_1029delinsATT c.541_543delinsATT (p.Val181Ile) | ClinVar dbSNP |
| 1 | g.55058564_55058566delinsGTC | CA1167984431 | PCSK9 | c.1420_1422delinsGTC (p.Val474=) c.1777_1779delinsGTC (p.Val593=) c.1045_1047delinsGTC (p.Val349=) c.160_162delinsGTC (p.Val54=) n.2144_2146delinsGTC n.1027_1029delinsGTC c.541_543delinsGTC (p.Val181=) | |
| 1 | g.55058565T>A | CA340478914 | PCSK9 | c.1421T>A (p.Val474Asp) c.1778T>A (p.Val593Asp) c.1046T>A (p.Val349Asp) c.161T>A (p.Val54Asp) n.2145T>A n.1028T>A c.542T>A (p.Val181Asp) | |
| 1 | g.55058565T>C | CA340478915 | PCSK9 | c.1421T>C (p.Val474Ala) c.1778T>C (p.Val593Ala) c.1046T>C (p.Val349Ala) c.161T>C (p.Val54Ala) n.2145T>C n.1028T>C c.542T>C (p.Val181Ala) | |
| 1 | g.55058565T>G | CA340478916 | PCSK9 | c.1421T>G (p.Val474Gly) c.1778T>G (p.Val593Gly) c.1046T>G (p.Val349Gly) c.161T>G (p.Val54Gly) n.2145T>G n.1028T>G c.542T>G (p.Val181Gly) | |
| 1 | g.55058566C>A | CA417960297 | PCSK9 | c.1422C>A (p.Val474=) c.1779C>A (p.Val593=) c.1047C>A (p.Val349=) c.162C>A (p.Val54=) n.2146C>A n.1029C>A c.543C>A (p.Val181=) | gnomAD v4 |
| 1 | g.55058566C= | CA1143933190 | PCSK9 | c.1422C= (p.Val474=) c.1779C= (p.Val593=) c.1047C= (p.Val349=) c.162C= (p.Val54=) n.2146C= n.1029C= c.543C= (p.Val181=) | |
| 1 | g.55058566C>G | CA417960298 | PCSK9 | c.1422C>G (p.Val474=) c.1779C>G (p.Val593=) c.1047C>G (p.Val349=) c.162C>G (p.Val54=) n.2146C>G n.1029C>G c.543C>G (p.Val181=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.55058566C>T | CA036918 | PCSK9 | c.1422C>T (p.Val474=) c.1779C>T (p.Val593=) c.1047C>T (p.Val349=) c.162C>T (p.Val54=) n.2146C>T n.1029C>T c.543C>T (p.Val181=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55058567G>A | CA036937 | PCSK9 | c.1423G>A (p.Ala475Thr) c.1780G>A (p.Ala594Thr) c.1048G>A (p.Ala350Thr) c.163G>A (p.Ala55Thr) n.2147G>A n.1030G>A c.544G>A (p.Ala182Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.55058567G>C | CA340478919 | PCSK9 | c.1423G>C (p.Ala475Pro) c.1780G>C (p.Ala594Pro) c.1048G>C (p.Ala350Pro) c.163G>C (p.Ala55Pro) n.2147G>C n.1030G>C c.544G>C (p.Ala182Pro) | |
| 1 | g.55058567G= | CA1167984432 | PCSK9 | c.1423G= (p.Ala475=) c.1780G= (p.Ala594=) c.1048G= (p.Ala350=) c.163G= (p.Ala55=) n.2147G= n.1030G= c.544G= (p.Ala182=) |