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 |
|---|---|---|---|---|---|
| 19 | g.38729423C>A | CA405707383 | ACTN4 | c.2712C>A (p.Ser904Arg) c.2586C>A (p.Ser862Arg) c.2727C>A (p.Ser909Arg) c.2070C>A (p.Ser690Arg) c.1557C>A (p.Ser519Arg) c.1020C>A (p.Ser340Arg) n.480C>A c.286-566C>A c.2793C>A (p.Ser931Arg) | |
| 19 | g.38729423C= | CA2335166193 | ACTN4 | c.2712C= (p.Ser904=) c.2586C= (p.Ser862=) c.2727C= (p.Ser909=) c.2070C= (p.Ser690=) c.1557C= (p.Ser519=) c.1020C= (p.Ser340=) n.480C= c.286-566C= c.2793C= (p.Ser931=) | |
| 19 | g.38729423C>G | CA405707385 | ACTN4 | c.2712C>G (p.Ser904Arg) c.2586C>G (p.Ser862Arg) c.2727C>G (p.Ser909Arg) c.2070C>G (p.Ser690Arg) c.1557C>G (p.Ser519Arg) c.1020C>G (p.Ser340Arg) n.480C>G c.286-566C>G c.2793C>G (p.Ser931Arg) | |
| 19 | g.38729423C>T | CA9418151 | ACTN4 | c.2712C>T (p.Ser904=) c.2586C>T (p.Ser862=) c.2727C>T (p.Ser909=) c.2070C>T (p.Ser690=) c.1557C>T (p.Ser519=) c.1020C>T (p.Ser340=) n.480C>T c.286-566C>T c.2793C>T (p.Ser931=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38729424G>A | CA405707392 | ACTN4 | c.2713G>A (p.Asp905Asn) c.2587G>A (p.Asp863Asn) c.2728G>A (p.Asp910Asn) c.2071G>A (p.Asp691Asn) c.1558G>A (p.Asp520Asn) c.1021G>A (p.Asp341Asn) n.481G>A c.286-565G>A c.2794G>A (p.Asp932Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38729424G>C | CA405707394 | ACTN4 | c.2713G>C (p.Asp905His) c.2587G>C (p.Asp863His) c.2728G>C (p.Asp910His) c.2071G>C (p.Asp691His) c.1558G>C (p.Asp520His) c.1021G>C (p.Asp341His) n.481G>C c.286-565G>C c.2794G>C (p.Asp932His) | gnomAD v4 |
| 19 | g.38729424G= | CA2335166194 | ACTN4 | c.2713G= (p.Asp905=) c.2587G= (p.Asp863=) c.2728G= (p.Asp910=) c.2071G= (p.Asp691=) c.1558G= (p.Asp520=) c.1021G= (p.Asp341=) n.481G= c.286-565G= c.2794G= (p.Asp932=) | |
| 19 | g.38729424G>T | CA308125853 | ACTN4 | c.2713G>T (p.Asp905Tyr) c.2587G>T (p.Asp863Tyr) c.2728G>T (p.Asp910Tyr) c.2071G>T (p.Asp691Tyr) c.1558G>T (p.Asp520Tyr) c.1021G>T (p.Asp341Tyr) n.481G>T c.286-565G>T c.2794G>T (p.Asp932Tyr) | ClinVar dbSNP |
| 19 | g.38729425A>C | CA405707399 | ACTN4 | c.2714A>C (p.Asp905Ala) c.2588A>C (p.Asp863Ala) c.2729A>C (p.Asp910Ala) c.2072A>C (p.Asp691Ala) c.1559A>C (p.Asp520Ala) c.1022A>C (p.Asp341Ala) n.482A>C c.286-564A>C c.2795A>C (p.Asp932Ala) | |
| 19 | g.38729425A>G | CA405707402 | ACTN4 | c.2714A>G (p.Asp905Gly) c.2588A>G (p.Asp863Gly) c.2729A>G (p.Asp910Gly) c.2072A>G (p.Asp691Gly) c.1559A>G (p.Asp520Gly) c.1022A>G (p.Asp341Gly) n.482A>G c.286-564A>G c.2795A>G (p.Asp932Gly) | |
| 19 | g.38729425A>T | CA405707405 | ACTN4 | c.2714A>T (p.Asp905Val) c.2588A>T (p.Asp863Val) c.2729A>T (p.Asp910Val) c.2072A>T (p.Asp691Val) c.1559A>T (p.Asp520Val) c.1022A>T (p.Asp341Val) n.482A>T c.286-564A>T c.2795A>T (p.Asp932Val) | |
| 19 | g.38729426C>A | CA405707411 | ACTN4 | c.2715C>A (p.Asp905Glu) c.2589C>A (p.Asp863Glu) c.2730C>A (p.Asp910Glu) c.2073C>A (p.Asp691Glu) c.1560C>A (p.Asp520Glu) c.1023C>A (p.Asp341Glu) n.483C>A c.286-563C>A c.2796C>A (p.Asp932Glu) | |
| 19 | g.38729426C= | CA2335166195 | ACTN4 | c.2715C= (p.Asp905=) c.2589C= (p.Asp863=) c.2730C= (p.Asp910=) c.2073C= (p.Asp691=) c.1560C= (p.Asp520=) c.1023C= (p.Asp341=) n.483C= c.286-563C= c.2796C= (p.Asp932=) | |
| 19 | g.38729426C>G | CA405707408 | ACTN4 | c.2715C>G (p.Asp905Glu) c.2589C>G (p.Asp863Glu) c.2730C>G (p.Asp910Glu) c.2073C>G (p.Asp691Glu) c.1560C>G (p.Asp520Glu) c.1023C>G (p.Asp341Glu) n.483C>G c.286-563C>G c.2796C>G (p.Asp932Glu) | gnomAD v4 |
| 19 | g.38729426C>T | CA507356748 | ACTN4 | c.2715C>T (p.Asp905=) c.2589C>T (p.Asp863=) c.2730C>T (p.Asp910=) c.2073C>T (p.Asp691=) c.1560C>T (p.Asp520=) c.1023C>T (p.Asp341=) n.483C>T c.286-563C>T c.2796C>T (p.Asp932=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38729427C>A | CA405707416 | ACTN4 | c.2716C>A (p.Leu906Met) c.2590C>A (p.Leu864Met) c.2731C>A (p.Leu911Met) c.2074C>A (p.Leu692Met) c.1561C>A (p.Leu521Met) c.1024C>A (p.Leu342Met) n.484C>A c.286-562C>A c.2797C>A (p.Leu933Met) | |
| 19 | g.38729427C= | CA2335166196 | ACTN4 | c.2716C= (p.Leu906=) c.2590C= (p.Leu864=) c.2731C= (p.Leu911=) c.2074C= (p.Leu692=) c.1561C= (p.Leu521=) c.1024C= (p.Leu342=) n.484C= c.286-562C= c.2797C= (p.Leu933=) | |
| 19 | g.38729427C>G | CA9418152 | ACTN4 | c.2716C>G (p.Leu906Val) c.2590C>G (p.Leu864Val) c.2731C>G (p.Leu911Val) c.2074C>G (p.Leu692Val) c.1561C>G (p.Leu521Val) c.1024C>G (p.Leu342Val) n.484C>G c.286-562C>G c.2797C>G (p.Leu933Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38729427C>T | CA9418153 | ACTN4 | c.2716C>T (p.Leu906=) c.2590C>T (p.Leu864=) c.2731C>T (p.Leu911=) c.2074C>T (p.Leu692=) c.1561C>T (p.Leu521=) c.1024C>T (p.Leu342=) n.484C>T c.286-562C>T c.2797C>T (p.Leu933=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38729428T>A | CA405707423 | ACTN4 | c.2717T>A (p.Leu906Gln) c.2591T>A (p.Leu864Gln) c.2732T>A (p.Leu911Gln) c.2075T>A (p.Leu692Gln) c.1562T>A (p.Leu521Gln) c.1025T>A (p.Leu342Gln) n.485T>A c.286-561T>A c.2798T>A (p.Leu933Gln) | |
| 19 | g.38729428T>C | CA308125855 | ACTN4 | c.2717T>C (p.Leu906Pro) c.2591T>C (p.Leu864Pro) c.2732T>C (p.Leu911Pro) c.2075T>C (p.Leu692Pro) c.1562T>C (p.Leu521Pro) c.1025T>C (p.Leu342Pro) n.485T>C c.286-561T>C c.2798T>C (p.Leu933Pro) | dbSNP gnomAD v4 |
| 19 | g.38729428T>G | CA405707428 | ACTN4 | c.2717T>G (p.Leu906Arg) c.2591T>G (p.Leu864Arg) c.2732T>G (p.Leu911Arg) c.2075T>G (p.Leu692Arg) c.1562T>G (p.Leu521Arg) c.1025T>G (p.Leu342Arg) n.485T>G c.286-561T>G c.2798T>G (p.Leu933Arg) | |
| 19 | g.38729428T= | CA2335166197 | ACTN4 | c.2717T= (p.Leu906=) c.2591T= (p.Leu864=) c.2732T= (p.Leu911=) c.2075T= (p.Leu692=) c.1562T= (p.Leu521=) c.1025T= (p.Leu342=) n.485T= c.286-561T= c.2798T= (p.Leu933=) | |
| 19 | g.38729429G>A | CA507356759 | ACTN4 | c.2718G>A (p.Leu906=) c.2592G>A (p.Leu864=) c.2733G>A (p.Leu911=) c.2076G>A (p.Leu692=) c.1563G>A (p.Leu521=) c.1026G>A (p.Leu342=) n.486G>A c.286-560G>A c.2799G>A (p.Leu933=) | |
| 19 | g.38729429G>C | CA507356761 | ACTN4 | c.2718G>C (p.Leu906=) c.2592G>C (p.Leu864=) c.2733G>C (p.Leu911=) c.2076G>C (p.Leu692=) c.1563G>C (p.Leu521=) c.1026G>C (p.Leu342=) n.486G>C c.286-560G>C c.2799G>C (p.Leu933=) | |
| 19 | g.38729429G>T | CA507356763 | ACTN4 | c.2718G>T (p.Leu906=) c.2592G>T (p.Leu864=) c.2733G>T (p.Leu911=) c.2076G>T (p.Leu692=) c.1563G>T (p.Leu521=) c.1026G>T (p.Leu342=) n.486G>T c.286-560G>T c.2799G>T (p.Leu933=) | |
| 19 | g.38729430T>A | CA405707432 | ACTN4 | c.2719T>A (p.Ter907Arg) c.2593T>A (p.Ter865Arg) c.2734T>A (p.Ter912Arg) c.2077T>A (p.Ter693Arg) c.1564T>A (p.Ter522Arg) c.1027T>A (p.Ter343Arg) n.487T>A c.286-559T>A c.2800T>A (p.Ter934Arg) | gnomAD v4 |
| 19 | g.38729430T>C | CA405707435 | ACTN4 | c.2719T>C (p.Ter907Arg) c.2593T>C (p.Ter865Arg) c.2734T>C (p.Ter912Arg) c.2077T>C (p.Ter693Arg) c.1564T>C (p.Ter522Arg) c.1027T>C (p.Ter343Arg) n.487T>C c.286-559T>C c.2800T>C (p.Ter934Arg) | |
| 19 | g.38729430T>G | CA405707437 | ACTN4 | c.2719T>G (p.Ter907Gly) c.2593T>G (p.Ter865Gly) c.2734T>G (p.Ter912Gly) c.2077T>G (p.Ter693Gly) c.1564T>G (p.Ter522Gly) c.1027T>G (p.Ter343Gly) n.487T>G c.286-559T>G c.2800T>G (p.Ter934Gly) | |
| 19 | g.38729431G>A | CA507356764 | ACTN4 | c.2720G>A (p.Ter907=) c.2594G>A (p.Ter865=) c.2735G>A (p.Ter912=) c.2078G>A (p.Ter693=) c.1565G>A (p.Ter522=) c.1028G>A (p.Ter343=) n.488G>A c.286-558G>A c.2801G>A (p.Ter934=) | |
| 19 | g.38729431G>C | CA405707441 | ACTN4 | c.2720G>C (p.Ter907Ser) c.2594G>C (p.Ter865Ser) c.2735G>C (p.Ter912Ser) c.2078G>C (p.Ter693Ser) c.1565G>C (p.Ter522Ser) c.1028G>C (p.Ter343Ser) n.488G>C c.286-558G>C c.2801G>C (p.Ter934Ser) | |
| 19 | g.38729431G>T | CA405707444 | ACTN4 | c.2720G>T (p.Ter907Leu) c.2594G>T (p.Ter865Leu) c.2735G>T (p.Ter912Leu) c.2078G>T (p.Ter693Leu) c.1565G>T (p.Ter522Leu) c.1028G>T (p.Ter343Leu) n.488G>T c.286-558G>T c.2801G>T (p.Ter934Leu) | |
| 19 | g.38729432A>C | CA405707454 | ACTN4 | c.2721A>C (p.Ter907Cys) c.2595A>C (p.Ter865Cys) c.2736A>C (p.Ter912Cys) c.2079A>C (p.Ter693Cys) c.1566A>C (p.Ter522Cys) c.1029A>C (p.Ter343Cys) n.489A>C c.286-557A>C c.2802A>C (p.Ter934Cys) | |
| 19 | g.38729432A>G | CA405707452 | ACTN4 | c.2721A>G (p.Ter907Trp) c.2595A>G (p.Ter865Trp) c.2736A>G (p.Ter912Trp) c.2079A>G (p.Ter693Trp) c.1566A>G (p.Ter522Trp) c.1029A>G (p.Ter343Trp) n.489A>G c.286-557A>G c.2802A>G (p.Ter934Trp) | |
| 19 | g.38729432A>T | CA405707449 | ACTN4 | c.2721A>T (p.Ter907Cys) c.2595A>T (p.Ter865Cys) c.2736A>T (p.Ter912Cys) c.2079A>T (p.Ter693Cys) c.1566A>T (p.Ter522Cys) c.1029A>T (p.Ter343Cys) n.489A>T c.286-557A>T c.2802A>T (p.Ter934Cys) | |
| 19 | g.38729433G>A | CA2576774258 | ACTN4 | c.*1G>A (n.*1G>A) c.2596G>A (n.2596G>A) c.1030G>A (n.1030G>A) n.490G>A c.286-556G>A | dbSNP |
| 19 | g.38729433G>T | CA2584928127 | ACTN4 | c.*1G>T (n.*1G>T) c.2596G>T (n.2596G>T) c.1030G>T (n.1030G>T) n.490G>T c.286-556G>T | gnomAD v4 |
| 19 | g.38729434G>T | CA2584928128 | ACTN4 | c.*2G>T (n.*2G>T) c.2597G>T (n.2597G>T) c.1031G>T (n.1031G>T) n.491G>T c.286-555G>T | gnomAD v4 |
| 19 | g.38729435C= | CA2335166198 | ACTN4 | c.*3C= (n.*3C=) c.2598C= (n.2598C=) c.1032C= (n.1032C=) n.492C= c.286-554C= | |
| 19 | g.38729435C>T | CA9418154 | ACTN4 | c.*3C>T (n.*3C>T) c.2598C>T (n.2598C>T) c.1032C>T (n.1032C>T) n.492C>T c.286-554C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38729436C>T | CA2584928129 | ACTN4 | c.*4C>T (n.*4C>T) c.2599C>T (n.2599C>T) c.1033C>T (n.1033C>T) n.493C>T c.286-553C>T | gnomAD v4 |
| 19 | g.38729437C>A | CA2335166201 | ACTN4 | c.*5C>A (n.*5C>A) c.2600C>A (n.2600C>A) c.1034C>A (n.1034C>A) n.494C>A c.286-552C>A | dbSNP |
| 19 | g.38729437C= | CA2335166200 | ACTN4 | c.*5C= (n.*5C=) c.2600C= (n.2600C=) c.1034C= (n.1034C=) n.494C= c.286-552C= | |
| 19 | g.38729437C>T | CA633067273 | ACTN4 | c.*5C>T (n.*5C>T) c.2600C>T (n.2600C>T) c.1034C>T (n.1034C>T) n.494C>T c.286-552C>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38729437_38729439delinsCCA | CA2335166199 | ACTN4 | c.*5_*7delinsCCA (n.*5_*7delinsCCA) c.2600_2602delinsCCA (n.2600_2602delinsCCA) c.1034_1036delinsCCA (n.1034_1036delinsCCA) n.494_496delinsCCA c.286-552_286-550delinsCCA | |
| 19 | g.38729438C= | CA2335166202 | ACTN4 | c.*6C= (n.*6C=) c.2601C= (n.2601C=) c.1035C= (n.1035C=) n.495C= c.286-551C= | |
| 19 | g.38729438C>G | CA995738661 | ACTN4 | c.*6C>G (n.*6C>G) c.2601C>G (n.2601C>G) c.1035C>G (n.1035C>G) n.495C>G c.286-551C>G | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38729438_38729439del | CA2335166203 | ACTN4 | c.*6_*7del (n.*6_*7del) c.2601_2602del (n.2601_2602del) c.1035_1036del (n.1035_1036del) n.495_496del c.286-551_286-550del | dbSNP gnomAD v4 |
| 19 | g.38729439A= | CA2335166204 | ACTN4 | c.*7A= (n.*7A=) c.2602A= (n.2602A=) c.1036A= (n.1036A=) n.496A= c.286-550A= | |
| 19 | g.38729439A>G | CA633067274 | ACTN4 | c.*7A>G (n.*7A>G) c.2602A>G (n.2602A>G) c.1036A>G (n.1036A>G) n.496A>G c.286-550A>G | dbSNP gnomAD v2 gnomAD v4 |