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 |
|---|---|---|---|---|---|
| 12 | g.51919008_51919028del | CA2695216694 | ACVRL1 | c.1000_1020del (p.Pro334_Pro340del) c.1270_1290del (p.Pro424_Pro430del) c.748_768del (p.Pro250_Pro256del) n.545_565del c.1312_1332del (p.Pro438_Pro444del) c.275_295del c.481_501del (p.Pro161_Pro167del) | |
| 12 | g.51919016T>A | CA384903791 | ACVRL1 | c.1008T>A (p.Tyr336Ter) c.1278T>A (p.Tyr426Ter) c.756T>A (p.Tyr252Ter) n.553T>A c.1320T>A (p.Tyr440Ter) c.283T>A c.489T>A (p.Tyr163Ter) | |
| 12 | g.51919016T>C | CA479813894 | ACVRL1 | c.1008T>C (p.Tyr336=) c.1278T>C (p.Tyr426=) c.756T>C (p.Tyr252=) n.553T>C c.1320T>C (p.Tyr440=) c.283T>C c.489T>C (p.Tyr163=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51919016T>G | CA384903790 | ACVRL1 | c.1008T>G (p.Tyr336Ter) c.1278T>G (p.Tyr426Ter) c.756T>G (p.Tyr252Ter) n.553T>G c.1320T>G (p.Tyr440Ter) c.283T>G c.489T>G (p.Tyr163Ter) | COSMIC COSMIC |
| 12 | g.51919016T= | CA2036239764 | ACVRL1 | c.1008T= (p.Tyr336=) c.1278T= (p.Tyr426=) c.756T= (p.Tyr252=) n.553T= c.1320T= (p.Tyr440=) c.283T= c.489T= (p.Tyr163=) | |
| 12 | g.51919017G>A | CA384903793 | ACVRL1 | c.1009G>A (p.Asp337Asn) c.1279G>A (p.Asp427Asn) c.757G>A (p.Asp253Asn) n.554G>A c.1321G>A (p.Asp441Asn) c.284G>A c.490G>A (p.Asp164Asn) | |
| 12 | g.51919017G>C | CA384903795 | ACVRL1 | c.1009G>C (p.Asp337His) c.1279G>C (p.Asp427His) c.757G>C (p.Asp253His) n.554G>C c.1321G>C (p.Asp441His) c.284G>C c.490G>C (p.Asp164His) | |
| 12 | g.51919017G>T | CA384903794 | ACVRL1 | c.1009G>T (p.Asp337Tyr) c.1279G>T (p.Asp427Tyr) c.757G>T (p.Asp253Tyr) n.554G>T c.1321G>T (p.Asp441Tyr) c.284G>T c.490G>T (p.Asp164Tyr) | |
| 12 | g.51919018A= | CA2036239768 | ACVRL1 | c.1010A= (p.Asp337=) c.1280A= (p.Asp427=) c.758A= (p.Asp253=) n.555A= c.1322A= (p.Asp441=) c.285A= c.491A= (p.Asp164=) | |
| 12 | g.51919018A>C | CA384903796 | ACVRL1 | c.1010A>C (p.Asp337Ala) c.1280A>C (p.Asp427Ala) c.758A>C (p.Asp253Ala) n.555A>C c.1322A>C (p.Asp441Ala) c.285A>C c.491A>C (p.Asp164Ala) | |
| 12 | g.51919018A>G | CA384903797 | ACVRL1 | c.1010A>G (p.Asp337Gly) c.1280A>G (p.Asp427Gly) c.758A>G (p.Asp253Gly) n.555A>G c.1322A>G (p.Asp441Gly) c.285A>G c.491A>G (p.Asp164Gly) | gnomAD v4 |
| 12 | g.51919018A>T | CA384903799 | ACVRL1 | c.1010A>T (p.Asp337Val) c.1280A>T (p.Asp427Val) c.758A>T (p.Asp253Val) n.555A>T c.1322A>T (p.Asp441Val) c.285A>T c.491A>T (p.Asp164Val) | ClinVar dbSNP |
| 12 | g.51919019T>A | CA384903801 | ACVRL1 | c.1011T>A (p.Asp337Glu) c.1281T>A (p.Asp427Glu) c.759T>A (p.Asp253Glu) n.556T>A c.1323T>A (p.Asp441Glu) c.286T>A c.492T>A (p.Asp164Glu) | |
| 12 | g.51919019T>C | CA479813915 | ACVRL1 | c.1011T>C (p.Asp337=) c.1281T>C (p.Asp427=) c.759T>C (p.Asp253=) n.556T>C c.1323T>C (p.Asp441=) c.286T>C c.492T>C (p.Asp164=) | COSMIC |
| 12 | g.51919019T>G | CA384903808 | ACVRL1 | c.1011T>G (p.Asp337Glu) c.1281T>G (p.Asp427Glu) c.759T>G (p.Asp253Glu) n.556T>G c.1323T>G (p.Asp441Glu) c.286T>G c.492T>G (p.Asp164Glu) | |
| 12 | g.51919020G>A | CA384903809 | ACVRL1 | c.1012G>A (p.Val338Met) c.1282G>A (p.Val428Met) c.760G>A (p.Val254Met) n.557G>A c.1324G>A (p.Val442Met) c.287G>A c.493G>A (p.Val165Met) | dbSNP gnomAD v4 |
| 12 | g.51919020G>C | CA384903810 | ACVRL1 | c.1012G>C (p.Val338Leu) c.1282G>C (p.Val428Leu) c.760G>C (p.Val254Leu) n.557G>C c.1324G>C (p.Val442Leu) c.287G>C c.493G>C (p.Val165Leu) | |
| 12 | g.51919020G= | CA2036239772 | ACVRL1 | c.1012G= (p.Val338=) c.1282G= (p.Val428=) c.760G= (p.Val254=) n.557G= c.1324G= (p.Val442=) c.287G= c.493G= (p.Val165=) | |
| 12 | g.51919020G>T | CA384903813 | ACVRL1 | c.1012G>T (p.Val338Leu) c.1282G>T (p.Val428Leu) c.760G>T (p.Val254Leu) n.557G>T c.1324G>T (p.Val442Leu) c.287G>T c.493G>T (p.Val165Leu) | |
| 12 | g.51919021T>A | CA384903815 | ACVRL1 | c.1013T>A (p.Val338Glu) c.1283T>A (p.Val428Glu) c.761T>A (p.Val254Glu) n.558T>A c.1325T>A (p.Val442Glu) c.288T>A c.494T>A (p.Val165Glu) | |
| 12 | g.51919021T>C | CA384903818 | ACVRL1 | c.1013T>C (p.Val338Ala) c.1283T>C (p.Val428Ala) c.761T>C (p.Val254Ala) n.558T>C c.1325T>C (p.Val442Ala) c.288T>C c.494T>C (p.Val165Ala) | dbSNP |
| 12 | g.51919021T>G | CA384903823 | ACVRL1 | c.1013T>G (p.Val338Gly) c.1283T>G (p.Val428Gly) c.761T>G (p.Val254Gly) n.558T>G c.1325T>G (p.Val442Gly) c.288T>G c.494T>G (p.Val165Gly) | |
| 12 | g.51919021T= | CA2036239774 | ACVRL1 | c.1013T= (p.Val338=) c.1283T= (p.Val428=) c.761T= (p.Val254=) n.558T= c.1325T= (p.Val442=) c.288T= c.494T= (p.Val165=) | |
| 12 | g.51919022G>A | CA479813932 | ACVRL1 | c.1014G>A (p.Val338=) c.1284G>A (p.Val428=) c.762G>A (p.Val254=) n.559G>A c.1326G>A (p.Val442=) c.289G>A c.495G>A (p.Val165=) | |
| 12 | g.51919022G>C | CA479813936 | ACVRL1 | c.1014G>C (p.Val338=) c.1284G>C (p.Val428=) c.762G>C (p.Val254=) n.559G>C c.1326G>C (p.Val442=) c.289G>C c.495G>C (p.Val165=) | |
| 12 | g.51919022G>T | CA479813946 | ACVRL1 | c.1014G>T (p.Val338=) c.1284G>T (p.Val428=) c.762G>T (p.Val254=) n.559G>T c.1326G>T (p.Val442=) c.289G>T c.495G>T (p.Val165=) | |
| 12 | g.51919023G>A | CA384903830 | ACVRL1 | c.1015G>A (p.Val339Met) c.1285G>A (p.Val429Met) c.763G>A (p.Val255Met) n.560G>A c.1327G>A (p.Val443Met) c.290G>A c.496G>A (p.Val166Met) | dbSNP gnomAD v4 |
| 12 | g.51919023G>C | CA384903829 | ACVRL1 | c.1015G>C (p.Val339Leu) c.1285G>C (p.Val429Leu) c.763G>C (p.Val255Leu) n.560G>C c.1327G>C (p.Val443Leu) c.290G>C c.496G>C (p.Val166Leu) | |
| 12 | g.51919023G= | CA2036239778 | ACVRL1 | c.1015G= (p.Val339=) c.1285G= (p.Val429=) c.763G= (p.Val255=) n.560G= c.1327G= (p.Val443=) c.290G= c.496G= (p.Val166=) | |
| 12 | g.51919023G>T | CA384903827 | ACVRL1 | c.1015G>T (p.Val339Leu) c.1285G>T (p.Val429Leu) c.763G>T (p.Val255Leu) n.560G>T c.1327G>T (p.Val443Leu) c.290G>T c.496G>T (p.Val166Leu) | ClinVar dbSNP |
| 12 | g.51919024T>A | CA384903833 | ACVRL1 | c.1016T>A (p.Val339Glu) c.1286T>A (p.Val429Glu) c.764T>A (p.Val255Glu) n.561T>A c.1328T>A (p.Val443Glu) c.291T>A c.497T>A (p.Val166Glu) | |
| 12 | g.51919024T>C | CA384903835 | ACVRL1 | c.1016T>C (p.Val339Ala) c.1286T>C (p.Val429Ala) c.764T>C (p.Val255Ala) n.561T>C c.1328T>C (p.Val443Ala) c.291T>C c.497T>C (p.Val166Ala) | |
| 12 | g.51919024T>G | CA384903836 | ACVRL1 | c.1016T>G (p.Val339Gly) c.1286T>G (p.Val429Gly) c.764T>G (p.Val255Gly) n.561T>G c.1328T>G (p.Val443Gly) c.291T>G c.497T>G (p.Val166Gly) | |
| 12 | g.51919025G>A | CA479813962 | ACVRL1 | c.1017G>A (p.Val339=) c.1287G>A (p.Val429=) c.765G>A (p.Val255=) n.562G>A c.1329G>A (p.Val443=) c.292G>A c.498G>A (p.Val166=) | gnomAD v4 |
| 12 | g.51919025G>C | CA479813964 | ACVRL1 | c.1017G>C (p.Val339=) c.1287G>C (p.Val429=) c.765G>C (p.Val255=) n.562G>C c.1329G>C (p.Val443=) c.292G>C c.498G>C (p.Val166=) | |
| 12 | g.51919025G>T | CA479813967 | ACVRL1 | c.1017G>T (p.Val339=) c.1287G>T (p.Val429=) c.765G>T (p.Val255=) n.562G>T c.1329G>T (p.Val443=) c.292G>T c.498G>T (p.Val166=) | COSMIC |
| 12 | g.51919026C>A | CA384903839 | ACVRL1 | c.1018C>A (p.Pro340Thr) c.1288C>A (p.Pro430Thr) c.766C>A (p.Pro256Thr) n.563C>A c.1330C>A (p.Pro444Thr) c.293C>A c.499C>A (p.Pro167Thr) | |
| 12 | g.51919026C>G | CA384903842 | ACVRL1 | c.1018C>G (p.Pro340Ala) c.1288C>G (p.Pro430Ala) c.766C>G (p.Pro256Ala) n.563C>G c.1330C>G (p.Pro444Ala) c.293C>G c.499C>G (p.Pro167Ala) | |
| 12 | g.51919026C>T | CA384903844 | ACVRL1 | c.1018C>T (p.Pro340Ser) c.1288C>T (p.Pro430Ser) c.766C>T (p.Pro256Ser) n.563C>T c.1330C>T (p.Pro444Ser) c.293C>T c.499C>T (p.Pro167Ser) | |
| 12 | g.51919028del | CA479813976 | ACVRL1 | c.1020del (p.Asn341MetfsTer8) c.1290del (p.Asn431MetfsTer8) c.768del (p.Asn257MetfsTer8) n.565del c.1332del (p.Asn445MetfsTer8) c.295del c.501del (p.Asn168MetfsTer8) | COSMIC |
| 12 | g.51919027C>A | CA384903846 | ACVRL1 | c.1019C>A (p.Pro340His) c.1289C>A (p.Pro430His) c.767C>A (p.Pro256His) n.564C>A c.1331C>A (p.Pro444His) c.294C>A c.500C>A (p.Pro167His) | |
| 12 | g.51919027C>G | CA384903848 | ACVRL1 | c.1019C>G (p.Pro340Arg) c.1289C>G (p.Pro430Arg) c.767C>G (p.Pro256Arg) n.564C>G c.1331C>G (p.Pro444Arg) c.294C>G c.500C>G (p.Pro167Arg) | |
| 12 | g.51919027C>T | CA384903857 | ACVRL1 | c.1019C>T (p.Pro340Leu) c.1289C>T (p.Pro430Leu) c.767C>T (p.Pro256Leu) n.564C>T c.1331C>T (p.Pro444Leu) c.294C>T c.500C>T (p.Pro167Leu) | |
| 12 | g.51919028C>A | CA479813986 | ACVRL1 | c.1020C>A (p.Pro340=) c.1290C>A (p.Pro430=) c.768C>A (p.Pro256=) n.565C>A c.1332C>A (p.Pro444=) c.295C>A c.501C>A (p.Pro167=) | |
| 12 | g.51919028C>G | CA479813990 | ACVRL1 | c.1020C>G (p.Pro340=) c.1290C>G (p.Pro430=) c.768C>G (p.Pro256=) n.565C>G c.1332C>G (p.Pro444=) c.295C>G c.501C>G (p.Pro167=) | |
| 12 | g.51919028C>T | CA479813993 | ACVRL1 | c.1020C>T (p.Pro340=) c.1290C>T (p.Pro430=) c.768C>T (p.Pro256=) n.565C>T c.1332C>T (p.Pro444=) c.295C>T c.501C>T (p.Pro167=) | |
| 12 | g.51919029A>C | CA384903860 | ACVRL1 | c.1021A>C (p.Asn341His) c.1291A>C (p.Asn431His) c.769A>C (p.Asn257His) n.566A>C c.1333A>C (p.Asn445His) c.296A>C c.502A>C (p.Asn168His) | |
| 12 | g.51919029A>G | CA384903864 | ACVRL1 | c.1021A>G (p.Asn341Asp) c.1291A>G (p.Asn431Asp) c.769A>G (p.Asn257Asp) n.566A>G c.1333A>G (p.Asn445Asp) c.296A>G c.502A>G (p.Asn168Asp) | COSMIC COSMIC |
| 12 | g.51919029A>T | CA384903867 | ACVRL1 | c.1021A>T (p.Asn341Tyr) c.1291A>T (p.Asn431Tyr) c.769A>T (p.Asn257Tyr) n.566A>T c.1333A>T (p.Asn445Tyr) c.296A>T c.502A>T (p.Asn168Tyr) | |
| 12 | g.51919030A= | CA2036239784 | ACVRL1 | c.1022A= (p.Asn341=) c.1292A= (p.Asn431=) c.770A= (p.Asn257=) n.567A= c.1334A= (p.Asn445=) c.297A= c.503A= (p.Asn168=) |