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 |
|---|---|---|---|---|---|
| 20 | g.41116331G>A | CA510555059 | PLCG1-AS1,TOP1 | c.1761G>A (p.Lys587=) c.354G>A (p.Lys118=) n.6547G>A c.*1456G>A (n.*1456G>A) n.3069G>A n.3023G>A n.711-15042C>T c.1257G>A (p.Lys419=) c.1023G>A (p.Lys341=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.41116331G>C | CA409021838 | PLCG1-AS1,TOP1 | c.1761G>C (p.Lys587Asn) c.354G>C (p.Lys118Asn) n.6547G>C c.*1456G>C (n.*1456G>C) n.3069G>C n.3023G>C n.711-15042C>G c.1257G>C (p.Lys419Asn) c.1023G>C (p.Lys341Asn) | |
| 20 | g.41116331G= | CA2364230909 | PLCG1-AS1,TOP1 | c.1761G= (p.Lys587=) c.354G= (p.Lys118=) n.6547G= c.*1456G= (n.*1456G=) n.3069G= n.3023G= n.711-15042C= c.1257G= (p.Lys419=) c.1023G= (p.Lys341=) | |
| 20 | g.41116331G>T | CA409021839 | PLCG1-AS1,TOP1 | c.1761G>T (p.Lys587Asn) c.354G>T (p.Lys118Asn) n.6547G>T c.*1456G>T (n.*1456G>T) n.3069G>T n.3023G>T n.711-15042C>A c.1257G>T (p.Lys419Asn) c.1023G>T (p.Lys341Asn) | |
| 20 | g.41116332G>A | CA409021840 | PLCG1-AS1,TOP1 | c.1762G>A (p.Val588Ile) c.355G>A (p.Val119Ile) n.6548G>A c.*1457G>A (n.*1457G>A) n.3070G>A n.3024G>A n.711-15043C>T c.1258G>A (p.Val420Ile) c.1024G>A (p.Val342Ile) | COSMIC |
| 20 | g.41116332G>C | CA409021841 | PLCG1-AS1,TOP1 | c.1762G>C (p.Val588Leu) c.355G>C (p.Val119Leu) n.6548G>C c.*1457G>C (n.*1457G>C) n.3070G>C n.3024G>C n.711-15043C>G c.1258G>C (p.Val420Leu) c.1024G>C (p.Val342Leu) | |
| 20 | g.41116332G>T | CA409021842 | PLCG1-AS1,TOP1 | c.1762G>T (p.Val588Leu) c.355G>T (p.Val119Leu) n.6548G>T c.*1457G>T (n.*1457G>T) n.3070G>T n.3024G>T n.711-15043C>A c.1258G>T (p.Val420Leu) c.1024G>T (p.Val342Leu) | |
| 20 | g.41116333T>A | CA409021843 | PLCG1-AS1,TOP1 | c.1763T>A (p.Val588Glu) c.356T>A (p.Val119Glu) n.6549T>A c.*1458T>A (n.*1458T>A) n.3071T>A n.3025T>A n.711-15044A>T c.1259T>A (p.Val420Glu) c.1025T>A (p.Val342Glu) | |
| 20 | g.41116333T>C | CA409021844 | PLCG1-AS1,TOP1 | c.1763T>C (p.Val588Ala) c.356T>C (p.Val119Ala) n.6549T>C c.*1458T>C (n.*1458T>C) n.3071T>C n.3025T>C n.711-15044A>G c.1259T>C (p.Val420Ala) c.1025T>C (p.Val342Ala) | |
| 20 | g.41116333T>G | CA409021845 | PLCG1-AS1,TOP1 | c.1763T>G (p.Val588Gly) c.356T>G (p.Val119Gly) n.6549T>G c.*1458T>G (n.*1458T>G) n.3071T>G n.3025T>G n.711-15044A>C c.1259T>G (p.Val420Gly) c.1025T>G (p.Val342Gly) | |
| 20 | g.41116334A>C | CA510555063 | PLCG1-AS1,TOP1 | c.1764A>C (p.Val588=) c.357A>C (p.Val119=) n.6550A>C c.*1459A>C (n.*1459A>C) n.3072A>C n.3026A>C n.711-15045T>G c.1260A>C (p.Val420=) c.1026A>C (p.Val342=) | |
| 20 | g.41116334A>G | CA510555064 | PLCG1-AS1,TOP1 | c.1764A>G (p.Val588=) c.357A>G (p.Val119=) n.6550A>G c.*1459A>G (n.*1459A>G) n.3072A>G n.3026A>G n.711-15045T>C c.1260A>G (p.Val420=) c.1026A>G (p.Val342=) | |
| 20 | g.41116334A>T | CA510555065 | PLCG1-AS1,TOP1 | c.1764A>T (p.Val588=) c.357A>T (p.Val119=) n.6550A>T c.*1459A>T (n.*1459A>T) n.3072A>T n.3026A>T n.711-15045T>A c.1260A>T (p.Val420=) c.1026A>T (p.Val342=) | |
| 20 | g.41116335T>A | CA409021848 | PLCG1-AS1,TOP1 | c.1765T>A (p.Phe589Ile) c.358T>A (p.Phe120Ile) n.6551T>A c.*1460T>A (n.*1460T>A) n.3073T>A n.3027T>A n.711-15046A>T c.1261T>A (p.Phe421Ile) c.1027T>A (p.Phe343Ile) | |
| 20 | g.41116335T>C | CA409021847 | PLCG1-AS1,TOP1 | c.1765T>C (p.Phe589Leu) c.358T>C (p.Phe120Leu) n.6551T>C c.*1460T>C (n.*1460T>C) n.3073T>C n.3027T>C n.711-15046A>G c.1261T>C (p.Phe421Leu) c.1027T>C (p.Phe343Leu) | |
| 20 | g.41116335T>G | CA409021846 | PLCG1-AS1,TOP1 | c.1765T>G (p.Phe589Val) c.358T>G (p.Phe120Val) n.6551T>G c.*1460T>G (n.*1460T>G) n.3073T>G n.3027T>G n.711-15046A>C c.1261T>G (p.Phe421Val) c.1027T>G (p.Phe343Val) | |
| 20 | g.41116336T>A | CA409021849 | PLCG1-AS1,TOP1 | c.1766T>A (p.Phe589Tyr) c.359T>A (p.Phe120Tyr) n.6552T>A c.*1461T>A (n.*1461T>A) n.3074T>A n.3028T>A n.711-15047A>T c.1262T>A (p.Phe421Tyr) c.1028T>A (p.Phe343Tyr) | |
| 20 | g.41116336T>C | CA409021851 | PLCG1-AS1,TOP1 | c.1766T>C (p.Phe589Ser) c.359T>C (p.Phe120Ser) n.6552T>C c.*1461T>C (n.*1461T>C) n.3074T>C n.3028T>C n.711-15047A>G c.1262T>C (p.Phe421Ser) c.1028T>C (p.Phe343Ser) | |
| 20 | g.41116336T>G | CA409021850 | PLCG1-AS1,TOP1 | c.1766T>G (p.Phe589Cys) c.359T>G (p.Phe120Cys) n.6552T>G c.*1461T>G (n.*1461T>G) n.3074T>G n.3028T>G n.711-15047A>C c.1262T>G (p.Phe421Cys) c.1028T>G (p.Phe343Cys) | |
| 20 | g.41116337C>A | CA409021852 | PLCG1-AS1,TOP1 | c.1767C>A (p.Phe589Leu) c.360C>A (p.Phe120Leu) n.6553C>A c.*1462C>A (n.*1462C>A) n.3075C>A n.3029C>A n.711-15048G>T c.1263C>A (p.Phe421Leu) c.1029C>A (p.Phe343Leu) | |
| 20 | g.41116337C>G | CA409021853 | PLCG1-AS1,TOP1 | c.1767C>G (p.Phe589Leu) c.360C>G (p.Phe120Leu) n.6553C>G c.*1462C>G (n.*1462C>G) n.3075C>G n.3029C>G n.711-15048G>C c.1263C>G (p.Phe421Leu) c.1029C>G (p.Phe343Leu) | |
| 20 | g.41116337C>T | CA510555069 | PLCG1-AS1,TOP1 | c.1767C>T (p.Phe589=) c.360C>T (p.Phe120=) n.6553C>T c.*1462C>T (n.*1462C>T) n.3075C>T n.3029C>T n.711-15048G>A c.1263C>T (p.Phe421=) c.1029C>T (p.Phe343=) | gnomAD v4 |
| 20 | g.41116338C>A | CA409021854 | PLCG1-AS1,TOP1 | c.1768C>A (p.Arg590Ser) c.361C>A (p.Arg121Ser) n.6554C>A c.*1463C>A (n.*1463C>A) n.3076C>A n.3030C>A n.711-15049G>T c.1264C>A (p.Arg422Ser) c.1030C>A (p.Arg344Ser) | |
| 20 | g.41116338C>G | CA409021855 | PLCG1-AS1,TOP1 | c.1768C>G (p.Arg590Gly) c.361C>G (p.Arg121Gly) n.6554C>G c.*1463C>G (n.*1463C>G) n.3076C>G n.3030C>G n.711-15049G>C c.1264C>G (p.Arg422Gly) c.1030C>G (p.Arg344Gly) | |
| 20 | g.41116338C>T | CA409021856 | PLCG1-AS1,TOP1 | c.1768C>T (p.Arg590Cys) c.361C>T (p.Arg121Cys) n.6554C>T c.*1463C>T (n.*1463C>T) n.3076C>T n.3030C>T n.711-15049G>A c.1264C>T (p.Arg422Cys) c.1030C>T (p.Arg344Cys) | dbSNP |
| 20 | g.41116339G>A | CA409021857 | PLCG1-AS1,TOP1 | c.1769G>A (p.Arg590His) c.362G>A (p.Arg121His) n.6555G>A c.*1464G>A (n.*1464G>A) n.3077G>A n.3031G>A n.711-15050C>T c.1265G>A (p.Arg422His) c.1031G>A (p.Arg344His) | dbSNP |
| 20 | g.41116339G>C | CA409021858 | PLCG1-AS1,TOP1 | c.1769G>C (p.Arg590Pro) c.362G>C (p.Arg121Pro) n.6555G>C c.*1464G>C (n.*1464G>C) n.3077G>C n.3031G>C n.711-15050C>G c.1265G>C (p.Arg422Pro) c.1031G>C (p.Arg344Pro) | |
| 20 | g.41116339G>T | CA409021859 | PLCG1-AS1,TOP1 | c.1769G>T (p.Arg590Leu) c.362G>T (p.Arg121Leu) n.6555G>T c.*1464G>T (n.*1464G>T) n.3077G>T n.3031G>T n.711-15050C>A c.1265G>T (p.Arg422Leu) c.1031G>T (p.Arg344Leu) | |
| 20 | g.41116340T>A | CA510555072 | PLCG1-AS1,TOP1 | c.1770T>A (p.Arg590=) c.363T>A (p.Arg121=) n.6556T>A c.*1465T>A (n.*1465T>A) n.3078T>A n.3032T>A n.711-15051A>T c.1266T>A (p.Arg422=) c.1032T>A (p.Arg344=) | |
| 20 | g.41116340T>C | CA510555073 | PLCG1-AS1,TOP1 | c.1770T>C (p.Arg590=) c.363T>C (p.Arg121=) n.6556T>C c.*1465T>C (n.*1465T>C) n.3078T>C n.3032T>C n.711-15051A>G c.1266T>C (p.Arg422=) c.1032T>C (p.Arg344=) | |
| 20 | g.41116340T>G | CA510555075 | PLCG1-AS1,TOP1 | c.1770T>G (p.Arg590=) c.363T>G (p.Arg121=) n.6556T>G c.*1465T>G (n.*1465T>G) n.3078T>G n.3032T>G n.711-15051A>C c.1266T>G (p.Arg422=) c.1032T>G (p.Arg344=) | |
| 20 | g.41116341A>C | CA409021860 | PLCG1-AS1,TOP1 | c.1771A>C (p.Thr591Pro) c.364A>C (p.Thr122Pro) n.6557A>C c.*1466A>C (n.*1466A>C) n.3079A>C n.3033A>C n.711-15052T>G c.1267A>C (p.Thr423Pro) c.1033A>C (p.Thr345Pro) | |
| 20 | g.41116341A>G | CA409021861 | PLCG1-AS1,TOP1 | c.1771A>G (p.Thr591Ala) c.364A>G (p.Thr122Ala) n.6557A>G c.*1466A>G (n.*1466A>G) n.3079A>G n.3033A>G n.711-15052T>C c.1267A>G (p.Thr423Ala) c.1033A>G (p.Thr345Ala) | |
| 20 | g.41116341A>T | CA409021862 | PLCG1-AS1,TOP1 | c.1771A>T (p.Thr591Ser) c.364A>T (p.Thr122Ser) n.6557A>T c.*1466A>T (n.*1466A>T) n.3079A>T n.3033A>T n.711-15052T>A c.1267A>T (p.Thr423Ser) c.1033A>T (p.Thr345Ser) | |
| 20 | g.41116342C>A | CA409021863 | PLCG1-AS1,TOP1 | c.1772C>A (p.Thr591Lys) c.365C>A (p.Thr122Lys) n.6558C>A c.*1467C>A (n.*1467C>A) n.3080C>A n.3034C>A n.711-15053G>T c.1268C>A (p.Thr423Lys) c.1034C>A (p.Thr345Lys) | |
| 20 | g.41116342C>G | CA409021864 | PLCG1-AS1,TOP1 | c.1772C>G (p.Thr591Arg) c.365C>G (p.Thr122Arg) n.6558C>G c.*1467C>G (n.*1467C>G) n.3080C>G n.3034C>G n.711-15053G>C c.1268C>G (p.Thr423Arg) c.1034C>G (p.Thr345Arg) | |
| 20 | g.41116342C>T | CA409021865 | PLCG1-AS1,TOP1 | c.1772C>T (p.Thr591Ile) c.365C>T (p.Thr122Ile) n.6558C>T c.*1467C>T (n.*1467C>T) n.3080C>T n.3034C>T n.711-15053G>A c.1268C>T (p.Thr423Ile) c.1034C>T (p.Thr345Ile) | dbSNP |
| 20 | g.41116343A= | CA2364230910 | PLCG1-AS1,TOP1 | c.1773A= (p.Thr591=) c.366A= (p.Thr122=) n.6559A= c.*1468A= (n.*1468A=) n.3081A= n.3035A= n.711-15054T= c.1269A= (p.Thr423=) c.1035A= (p.Thr345=) | |
| 20 | g.41116343A>C | CA510555077 | PLCG1-AS1,TOP1 | c.1773A>C (p.Thr591=) c.366A>C (p.Thr122=) n.6559A>C c.*1468A>C (n.*1468A>C) n.3081A>C n.3035A>C n.711-15054T>G c.1269A>C (p.Thr423=) c.1035A>C (p.Thr345=) | |
| 20 | g.41116343A>G | CA9858313 | PLCG1-AS1,TOP1 | c.1773A>G (p.Thr591=) c.366A>G (p.Thr122=) n.6559A>G c.*1468A>G (n.*1468A>G) n.3081A>G n.3035A>G n.711-15054T>C c.1269A>G (p.Thr423=) c.1035A>G (p.Thr345=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.41116343A>T | CA510555078 | PLCG1-AS1,TOP1 | c.1773A>T (p.Thr591=) c.366A>T (p.Thr122=) n.6559A>T c.*1468A>T (n.*1468A>T) n.3081A>T n.3035A>T n.711-15054T>A c.1269A>T (p.Thr423=) c.1035A>T (p.Thr345=) | |
| 20 | g.41116344T>A | CA409021866 | PLCG1-AS1,TOP1 | c.1774T>A (p.Tyr592Asn) c.367T>A (p.Tyr123Asn) n.6560T>A c.*1469T>A (n.*1469T>A) n.3082T>A n.3036T>A n.711-15055A>T c.1270T>A (p.Tyr424Asn) c.1036T>A (p.Tyr346Asn) | COSMIC |
| 20 | g.41116344T>C | CA409021867 | PLCG1-AS1,TOP1 | c.1774T>C (p.Tyr592His) c.367T>C (p.Tyr123His) n.6560T>C c.*1469T>C (n.*1469T>C) n.3082T>C n.3036T>C n.711-15055A>G c.1270T>C (p.Tyr424His) c.1036T>C (p.Tyr346His) | |
| 20 | g.41116344T>G | CA409021868 | PLCG1-AS1,TOP1 | c.1774T>G (p.Tyr592Asp) c.367T>G (p.Tyr123Asp) n.6560T>G c.*1469T>G (n.*1469T>G) n.3082T>G n.3036T>G n.711-15055A>C c.1270T>G (p.Tyr424Asp) c.1036T>G (p.Tyr346Asp) | |
| 20 | g.41116345A>C | CA409021869 | PLCG1-AS1,TOP1 | c.1775A>C (p.Tyr592Ser) c.368A>C (p.Tyr123Ser) n.6561A>C c.*1470A>C (n.*1470A>C) n.3083A>C n.3037A>C n.711-15056T>G c.1271A>C (p.Tyr424Ser) c.1037A>C (p.Tyr346Ser) | |
| 20 | g.41116345A>G | CA409021870 | PLCG1-AS1,TOP1 | c.1775A>G (p.Tyr592Cys) c.368A>G (p.Tyr123Cys) n.6561A>G c.*1470A>G (n.*1470A>G) n.3083A>G n.3037A>G n.711-15056T>C c.1271A>G (p.Tyr424Cys) c.1037A>G (p.Tyr346Cys) | gnomAD v4 |
| 20 | g.41116345A>T | CA409021871 | PLCG1-AS1,TOP1 | c.1775A>T (p.Tyr592Phe) c.368A>T (p.Tyr123Phe) n.6561A>T c.*1470A>T (n.*1470A>T) n.3083A>T n.3037A>T n.711-15056T>A c.1271A>T (p.Tyr424Phe) c.1037A>T (p.Tyr346Phe) | |
| 20 | g.41116346C>A | CA409021872 | PLCG1-AS1,TOP1 | c.1776C>A (p.Tyr592Ter) c.369C>A (p.Tyr123Ter) n.6562C>A c.*1471C>A (n.*1471C>A) n.3084C>A n.3038C>A n.711-15057G>T c.1272C>A (p.Tyr424Ter) c.1038C>A (p.Tyr346Ter) | |
| 20 | g.41116346C>G | CA409021873 | PLCG1-AS1,TOP1 | c.1776C>G (p.Tyr592Ter) c.369C>G (p.Tyr123Ter) n.6562C>G c.*1471C>G (n.*1471C>G) n.3084C>G n.3038C>G n.711-15057G>C c.1272C>G (p.Tyr424Ter) c.1038C>G (p.Tyr346Ter) | |
| 20 | g.41116346C>T | CA510555079 | PLCG1-AS1,TOP1 | c.1776C>T (p.Tyr592=) c.369C>T (p.Tyr123=) n.6562C>T c.*1471C>T (n.*1471C>T) n.3084C>T n.3038C>T n.711-15057G>A c.1272C>T (p.Tyr424=) c.1038C>T (p.Tyr346=) | gnomAD v4 |