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 |
|---|---|---|---|---|---|
| 11 | g.66850059A= | CA1979910217 | PC | c.2776T= (p.Leu926=) n.296T= c.*785T= (n.*785T=) c.*1252T= (n.*1252T=) c.136T= (p.Leu46=) c.1255T= (p.Leu419=) c.1480T= (p.Leu494=) c.1411T= (p.Leu471=) | |
| 11 | g.66850059A>C | CA381492035 | PC | c.2776T>G (p.Leu926Val) n.296T>G c.*785T>G (n.*785T>G) c.*1252T>G (n.*1252T>G) c.136T>G (p.Leu46Val) c.1255T>G (p.Leu419Val) c.1480T>G (p.Leu494Val) c.1411T>G (p.Leu471Val) | dbSNP gnomAD v4 |
| 11 | g.66850059A>G | CA224122369 | PC | c.2776T>C (p.Leu926=) n.296T>C c.*785T>C (n.*785T>C) c.*1252T>C (n.*1252T>C) c.136T>C (p.Leu46=) c.1255T>C (p.Leu419=) c.1480T>C (p.Leu494=) c.1411T>C (p.Leu471=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66850059A>T | CA381492037 | PC | c.2776T>A (p.Leu926Met) n.296T>A c.*785T>A (n.*785T>A) c.*1252T>A (n.*1252T>A) c.136T>A (p.Leu46Met) c.1255T>A (p.Leu419Met) c.1480T>A (p.Leu494Met) c.1411T>A (p.Leu471Met) | |
| 11 | g.66850060T>A | CA475501212 | PC | c.2775A>T (p.Gly925=) n.295A>T c.*784A>T (n.*784A>T) c.*1251A>T (n.*1251A>T) c.135A>T (p.Gly45=) c.1254A>T (p.Gly418=) c.1479A>T (p.Gly493=) c.1410A>T (p.Gly470=) | gnomAD v4 |
| 11 | g.66850060T>C | CA475501213 | PC | c.2775A>G (p.Gly925=) n.295A>G c.*784A>G (n.*784A>G) c.*1251A>G (n.*1251A>G) c.135A>G (p.Gly45=) c.1254A>G (p.Gly418=) c.1479A>G (p.Gly493=) c.1410A>G (p.Gly470=) | |
| 11 | g.66850060T>G | CA475501214 | PC | c.2775A>C (p.Gly925=) n.295A>C c.*784A>C (n.*784A>C) c.*1251A>C (n.*1251A>C) c.135A>C (p.Gly45=) c.1254A>C (p.Gly418=) c.1479A>C (p.Gly493=) c.1410A>C (p.Gly470=) | |
| 11 | g.66850061C>A | CA381492040 | PC | c.2774G>T (p.Gly925Val) n.294G>T c.*783G>T (n.*783G>T) c.*1250G>T (n.*1250G>T) c.134G>T (p.Gly45Val) c.1253G>T (p.Gly418Val) c.1478G>T (p.Gly493Val) c.1409G>T (p.Gly470Val) | |
| 11 | g.66850061C= | CA1979910226 | PC | c.2774G= (p.Gly925=) n.294G= c.*783G= (n.*783G=) c.*1250G= (n.*1250G=) c.134G= (p.Gly45=) c.1253G= (p.Gly418=) c.1478G= (p.Gly493=) c.1409G= (p.Gly470=) | |
| 11 | g.66850061C>G | CA381492041 | PC | c.2774G>C (p.Gly925Ala) n.294G>C c.*783G>C (n.*783G>C) c.*1250G>C (n.*1250G>C) c.134G>C (p.Gly45Ala) c.1253G>C (p.Gly418Ala) c.1478G>C (p.Gly493Ala) c.1409G>C (p.Gly470Ala) | dbSNP |
| 11 | g.66850061C>T | CA381492038 | PC | c.2774G>A (p.Gly925Glu) n.294G>A c.*783G>A (n.*783G>A) c.*1250G>A (n.*1250G>A) c.134G>A (p.Gly45Glu) c.1253G>A (p.Gly418Glu) c.1478G>A (p.Gly493Glu) c.1409G>A (p.Gly470Glu) | |
| 11 | g.66850062C>A | CA381492043 | PC | c.2773G>T (p.Gly925Ter) n.293G>T c.*782G>T (n.*782G>T) c.*1249G>T (n.*1249G>T) c.133G>T (p.Gly45Ter) c.1252G>T (p.Gly418Ter) c.1477G>T (p.Gly493Ter) c.1408G>T (p.Gly470Ter) | COSMIC |
| 11 | g.66850062C>G | CA381492045 | PC | c.2773G>C (p.Gly925Arg) n.293G>C c.*782G>C (n.*782G>C) c.*1249G>C (n.*1249G>C) c.133G>C (p.Gly45Arg) c.1252G>C (p.Gly418Arg) c.1477G>C (p.Gly493Arg) c.1408G>C (p.Gly470Arg) | |
| 11 | g.66850062C>T | CA381492046 | PC | c.2773G>A (p.Gly925Arg) n.293G>A c.*782G>A (n.*782G>A) c.*1249G>A (n.*1249G>A) c.133G>A (p.Gly45Arg) c.1252G>A (p.Gly418Arg) c.1477G>A (p.Gly493Arg) c.1408G>A (p.Gly470Arg) | |
| 11 | g.66850063A>C | CA381492047 | PC | c.2772T>G (p.Asn924Lys) n.292T>G c.*781T>G (n.*781T>G) c.*1248T>G (n.*1248T>G) c.132T>G (p.Asn44Lys) c.1251T>G (p.Asn417Lys) c.1476T>G (p.Asn492Lys) c.1407T>G (p.Asn469Lys) | |
| 11 | g.66850063A>G | CA475501217 | PC | c.2772T>C (p.Asn924=) n.292T>C c.*781T>C (n.*781T>C) c.*1248T>C (n.*1248T>C) c.132T>C (p.Asn44=) c.1251T>C (p.Asn417=) c.1476T>C (p.Asn492=) c.1407T>C (p.Asn469=) | ClinVar |
| 11 | g.66850063A>T | CA381492048 | PC | c.2772T>A (p.Asn924Lys) n.292T>A c.*781T>A (n.*781T>A) c.*1248T>A (n.*1248T>A) c.132T>A (p.Asn44Lys) c.1251T>A (p.Asn417Lys) c.1476T>A (p.Asn492Lys) c.1407T>A (p.Asn469Lys) | |
| 11 | g.66850064T>A | CA381492053 | PC | c.2771A>T (p.Asn924Ile) n.291A>T c.*780A>T (n.*780A>T) c.*1247A>T (n.*1247A>T) c.131A>T (p.Asn44Ile) c.1250A>T (p.Asn417Ile) c.1475A>T (p.Asn492Ile) c.1406A>T (p.Asn469Ile) | |
| 11 | g.66850064T>C | CA381492050 | PC | c.2771A>G (p.Asn924Ser) n.291A>G c.*780A>G (n.*780A>G) c.*1247A>G (n.*1247A>G) c.131A>G (p.Asn44Ser) c.1250A>G (p.Asn417Ser) c.1475A>G (p.Asn492Ser) c.1406A>G (p.Asn469Ser) | gnomAD v4 |
| 11 | g.66850064T>G | CA381492052 | PC | c.2771A>C (p.Asn924Thr) n.291A>C c.*780A>C (n.*780A>C) c.*1247A>C (n.*1247A>C) c.131A>C (p.Asn44Thr) c.1250A>C (p.Asn417Thr) c.1475A>C (p.Asn492Thr) c.1406A>C (p.Asn469Thr) | |
| 11 | g.66850065T>A | CA381492055 | PC | c.2770A>T (p.Asn924Tyr) n.290A>T c.*779A>T (n.*779A>T) c.*1246A>T (n.*1246A>T) c.130A>T (p.Asn44Tyr) c.1249A>T (p.Asn417Tyr) c.1474A>T (p.Asn492Tyr) c.1405A>T (p.Asn469Tyr) | |
| 11 | g.66850065T>C | CA381492056 | PC | c.2770A>G (p.Asn924Asp) n.290A>G c.*779A>G (n.*779A>G) c.*1246A>G (n.*1246A>G) c.130A>G (p.Asn44Asp) c.1249A>G (p.Asn417Asp) c.1474A>G (p.Asn492Asp) c.1405A>G (p.Asn469Asp) | |
| 11 | g.66850065T>G | CA381492057 | PC | c.2770A>C (p.Asn924His) n.290A>C c.*779A>C (n.*779A>C) c.*1246A>C (n.*1246A>C) c.130A>C (p.Asn44His) c.1249A>C (p.Asn417His) c.1474A>C (p.Asn492His) c.1405A>C (p.Asn469His) | |
| 11 | g.66850066C>A | CA381492059 | PC | c.2769G>T (p.Gln923His) n.290-1G>T c.*778G>T (n.*778G>T) c.*1245G>T (n.*1245G>T) c.129G>T (p.Gln43His) c.1248G>T (p.Gln416His) c.1473G>T (p.Gln491His) c.1404G>T (p.Gln468His) | dbSNP |
| 11 | g.66850066C>G | CA381492061 | PC | c.2769G>C (p.Gln923His) n.290-1G>C c.*778G>C (n.*778G>C) c.*1245G>C (n.*1245G>C) c.129G>C (p.Gln43His) c.1248G>C (p.Gln416His) c.1473G>C (p.Gln491His) c.1404G>C (p.Gln468His) | gnomAD v4 |
| 11 | g.66850066C>T | CA475501219 | PC | c.2769G>A (p.Gln923=) n.290-1G>A c.*778G>A (n.*778G>A) c.*1245G>A (n.*1245G>A) c.129G>A (p.Gln43=) c.1248G>A (p.Gln416=) c.1473G>A (p.Gln491=) c.1404G>A (p.Gln468=) | gnomAD v4 |
| 11 | g.66850067T>A | CA381492063 | PC | c.2768A>T (p.Gln923Leu) n.290-2A>T c.*777A>T (n.*777A>T) c.*1244A>T (n.*1244A>T) c.128A>T (p.Gln43Leu) c.1247A>T (p.Gln416Leu) c.1472A>T (p.Gln491Leu) c.1403A>T (p.Gln468Leu) | |
| 11 | g.66850067T>C | CA381492065 | PC | c.2768A>G (p.Gln923Arg) n.290-2A>G c.*777A>G (n.*777A>G) c.*1244A>G (n.*1244A>G) c.128A>G (p.Gln43Arg) c.1247A>G (p.Gln416Arg) c.1472A>G (p.Gln491Arg) c.1403A>G (p.Gln468Arg) | |
| 11 | g.66850067T>G | CA381492064 | PC | c.2768A>C (p.Gln923Pro) n.290-2A>C c.*777A>C (n.*777A>C) c.*1244A>C (n.*1244A>C) c.128A>C (p.Gln43Pro) c.1247A>C (p.Gln416Pro) c.1472A>C (p.Gln491Pro) c.1403A>C (p.Gln468Pro) | |
| 11 | g.66850068G>A | CA381492067 | PC | c.2767C>T (p.Gln923Ter) n.290-3C>T c.*776C>T (n.*776C>T) c.*1243C>T (n.*1243C>T) c.127C>T (p.Gln43Ter) c.1246C>T (p.Gln416Ter) c.1471C>T (p.Gln491Ter) c.1402C>T (p.Gln468Ter) | |
| 11 | g.66850068G>C | CA381492069 | PC | c.2767C>G (p.Gln923Glu) n.290-3C>G c.*776C>G (n.*776C>G) c.*1243C>G (n.*1243C>G) c.127C>G (p.Gln43Glu) c.1246C>G (p.Gln416Glu) c.1471C>G (p.Gln491Glu) c.1402C>G (p.Gln468Glu) | dbSNP gnomAD v4 |
| 11 | g.66850068G= | CA1979910233 | PC | c.2767C= (p.Gln923=) n.290-3C= c.*776C= (n.*776C=) c.*1243C= (n.*1243C=) c.127C= (p.Gln43=) c.1246C= (p.Gln416=) c.1471C= (p.Gln491=) c.1402C= (p.Gln468=) | |
| 11 | g.66850068G>T | CA381492071 | PC | c.2767C>A (p.Gln923Lys) n.290-3C>A c.*776C>A (n.*776C>A) c.*1243C>A (n.*1243C>A) c.127C>A (p.Gln43Lys) c.1246C>A (p.Gln416Lys) c.1471C>A (p.Gln491Lys) c.1402C>A (p.Gln468Lys) | |
| 11 | g.66850069C>A | CA475501222 | PC | c.2766G>T (p.Val922=) n.290-4G>T c.*775G>T (n.*775G>T) c.*1242G>T (n.*1242G>T) c.126G>T (p.Val42=) c.1245G>T (p.Val415=) c.1470G>T (p.Val490=) c.1401G>T (p.Val467=) | |
| 11 | g.66850069C= | CA1979910243 | PC | c.2766G= (p.Val922=) n.290-4G= c.*775G= (n.*775G=) c.*1242G= (n.*1242G=) c.126G= (p.Val42=) c.1245G= (p.Val415=) c.1470G= (p.Val490=) c.1401G= (p.Val467=) | |
| 11 | g.66850069C>G | CA475501226 | PC | c.2766G>C (p.Val922=) n.290-4G>C c.*775G>C (n.*775G>C) c.*1242G>C (n.*1242G>C) c.126G>C (p.Val42=) c.1245G>C (p.Val415=) c.1470G>C (p.Val490=) c.1401G>C (p.Val467=) | |
| 11 | g.66850069C>T | CA475501224 | PC | c.2766G>A (p.Val922=) n.290-4G>A c.*775G>A (n.*775G>A) c.*1242G>A (n.*1242G>A) c.126G>A (p.Val42=) c.1245G>A (p.Val415=) c.1470G>A (p.Val490=) c.1401G>A (p.Val467=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.66850070A= | CA1979910250 | PC | c.2765T= (p.Val922=) n.290-5T= c.*774T= (n.*774T=) c.*1241T= (n.*1241T=) c.125T= (p.Val42=) c.1244T= (p.Val415=) c.1469T= (p.Val490=) c.1400T= (p.Val467=) | |
| 11 | g.66850070A>C | CA381492072 | PC | c.2765T>G (p.Val922Gly) n.290-5T>G c.*774T>G (n.*774T>G) c.*1241T>G (n.*1241T>G) c.125T>G (p.Val42Gly) c.1244T>G (p.Val415Gly) c.1469T>G (p.Val490Gly) c.1400T>G (p.Val467Gly) | |
| 11 | g.66850070A>G | CA381492073 | PC | c.2765T>C (p.Val922Ala) n.290-5T>C c.*774T>C (n.*774T>C) c.*1241T>C (n.*1241T>C) c.125T>C (p.Val42Ala) c.1244T>C (p.Val415Ala) c.1469T>C (p.Val490Ala) c.1400T>C (p.Val467Ala) | dbSNP |
| 11 | g.66850070A>T | CA381492074 | PC | c.2765T>A (p.Val922Glu) n.290-5T>A c.*774T>A (n.*774T>A) c.*1241T>A (n.*1241T>A) c.125T>A (p.Val42Glu) c.1244T>A (p.Val415Glu) c.1469T>A (p.Val490Glu) c.1400T>A (p.Val467Glu) | |
| 11 | g.66850071C>A | CA381492077 | PC | c.2764G>T (p.Val922Leu) n.290-6G>T c.*773G>T (n.*773G>T) c.*1240G>T (n.*1240G>T) c.124G>T (p.Val42Leu) c.1243G>T (p.Val415Leu) c.1468G>T (p.Val490Leu) c.1399G>T (p.Val467Leu) | dbSNP |
| 11 | g.66850071C= | CA1979910252 | PC | c.2764G= (p.Val922=) n.290-6G= c.*773G= (n.*773G=) c.*1240G= (n.*1240G=) c.124G= (p.Val42=) c.1243G= (p.Val415=) c.1468G= (p.Val490=) c.1399G= (p.Val467=) | |
| 11 | g.66850071C>G | CA381492078 | PC | c.2764G>C (p.Val922Leu) n.290-6G>C c.*773G>C (n.*773G>C) c.*1240G>C (n.*1240G>C) c.124G>C (p.Val42Leu) c.1243G>C (p.Val415Leu) c.1468G>C (p.Val490Leu) c.1399G>C (p.Val467Leu) | |
| 11 | g.66850071C>T | CA381492079 | PC | c.2764G>A (p.Val922Met) n.290-6G>A c.*773G>A (n.*773G>A) c.*1240G>A (n.*1240G>A) c.124G>A (p.Val42Met) c.1243G>A (p.Val415Met) c.1468G>A (p.Val490Met) c.1399G>A (p.Val467Met) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66850072C>A | CA381492081 | PC | c.2763G>T (p.Met921Ile) n.290-7G>T c.*772G>T (n.*772G>T) c.*1239G>T (n.*1239G>T) c.123G>T (p.Met41Ile) c.1242G>T (p.Met414Ile) c.1467G>T (p.Met489Ile) c.1398G>T (p.Met466Ile) | |
| 11 | g.66850072C>G | CA381492083 | PC | c.2763G>C (p.Met921Ile) n.290-7G>C c.*772G>C (n.*772G>C) c.*1239G>C (n.*1239G>C) c.123G>C (p.Met41Ile) c.1242G>C (p.Met414Ile) c.1467G>C (p.Met489Ile) c.1398G>C (p.Met466Ile) | |
| 11 | g.66850072C>T | CA381492084 | PC | c.2763G>A (p.Met921Ile) n.290-7G>A c.*772G>A (n.*772G>A) c.*1239G>A (n.*1239G>A) c.123G>A (p.Met41Ile) c.1242G>A (p.Met414Ile) c.1467G>A (p.Met489Ile) c.1398G>A (p.Met466Ile) | |
| 11 | g.66850073A>C | CA381492087 | PC | c.2762T>G (p.Met921Arg) n.290-8T>G c.*771T>G (n.*771T>G) c.*1238T>G (n.*1238T>G) c.122T>G (p.Met41Arg) c.1241T>G (p.Met414Arg) c.1466T>G (p.Met489Arg) c.1397T>G (p.Met466Arg) | |
| 11 | g.66850073A>G | CA381492088 | PC | c.2762T>C (p.Met921Thr) n.290-8T>C c.*771T>C (n.*771T>C) c.*1238T>C (n.*1238T>C) c.122T>C (p.Met41Thr) c.1241T>C (p.Met414Thr) c.1466T>C (p.Met489Thr) c.1397T>C (p.Met466Thr) |