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 |
|---|---|---|---|---|---|
| 2 | g.29220780G>A | CA346473086 | ALK | c.3571C>T (p.Pro1191Ser) c.798C>T n.448C>T c.367C>T (p.Pro123Ser) c.451C>T (p.Pro151Ser) c.2440C>T (p.Pro814Ser) c.724C>T (p.Pro242Ser) | dbSNP gnomAD v4 COSMIC |
| 2 | g.29220780G>C | CA346473087 | ALK | c.3571C>G (p.Pro1191Ala) c.798C>G n.448C>G c.367C>G (p.Pro123Ala) c.451C>G (p.Pro151Ala) c.2440C>G (p.Pro814Ala) c.724C>G (p.Pro242Ala) | dbSNP |
| 2 | g.29220780G>T | CA346473088 | ALK | c.3571C>A (p.Pro1191Thr) c.798C>A n.448C>A c.367C>A (p.Pro123Thr) c.451C>A (p.Pro151Thr) c.2440C>A (p.Pro814Thr) c.724C>A (p.Pro242Thr) | ClinVar dbSNP |
| 2 | g.29220781C>A | CA425619415 | ALK | c.3570G>T (p.Leu1190=) c.797G>T n.447G>T c.366G>T (p.Leu122=) c.450G>T (p.Leu150=) c.2439G>T (p.Leu813=) c.723G>T (p.Leu241=) | ClinVar |
| 2 | g.29220781C= | CA1241089785 | ALK | c.3570G= (p.Leu1190=) c.797G= n.447G= c.366G= (p.Leu122=) c.450G= (p.Leu150=) c.2439G= (p.Leu813=) c.723G= (p.Leu241=) | |
| 2 | g.29220781C>G | CA425619416 | ALK | c.3570G>C (p.Leu1190=) c.797G>C n.447G>C c.366G>C (p.Leu122=) c.450G>C (p.Leu150=) c.2439G>C (p.Leu813=) c.723G>C (p.Leu241=) | dbSNP |
| 2 | g.29220781C>T | CA425619417 | ALK | c.3570G>A (p.Leu1190=) c.797G>A n.447G>A c.366G>A (p.Leu122=) c.450G>A (p.Leu150=) c.2439G>A (p.Leu813=) c.723G>A (p.Leu241=) | dbSNP |
| 2 | g.29220782A= | CA1241089786 | ALK | c.3569T= (p.Leu1190=) c.796T= n.446T= c.365T= (p.Leu122=) c.449T= (p.Leu150=) c.2438T= (p.Leu813=) c.722T= (p.Leu241=) | |
| 2 | g.29220782A>C | CA346473089 | ALK | c.3569T>G (p.Leu1190Arg) c.796T>G n.446T>G c.365T>G (p.Leu122Arg) c.449T>G (p.Leu150Arg) c.2438T>G (p.Leu813Arg) c.722T>G (p.Leu241Arg) | |
| 2 | g.29220782A>G | CA346473090 | ALK | c.3569T>C (p.Leu1190Pro) c.796T>C n.446T>C c.365T>C (p.Leu122Pro) c.449T>C (p.Leu150Pro) c.2438T>C (p.Leu813Pro) c.722T>C (p.Leu241Pro) | ClinVar dbSNP |
| 2 | g.29220782A>T | CA346473091 | ALK | c.3569T>A (p.Leu1190Gln) c.796T>A n.446T>A c.365T>A (p.Leu122Gln) c.449T>A (p.Leu150Gln) c.2438T>A (p.Leu813Gln) c.722T>A (p.Leu241Gln) | |
| 2 | g.29220783G>A | CA425619418 | ALK | c.3568C>T (p.Leu1190=) c.795C>T n.445C>T c.364C>T (p.Leu122=) c.448C>T (p.Leu150=) c.2437C>T (p.Leu813=) c.721C>T (p.Leu241=) | dbSNP |
| 2 | g.29220783G>C | CA346473092 | ALK | c.3568C>G (p.Leu1190Val) c.795C>G n.445C>G c.364C>G (p.Leu122Val) c.448C>G (p.Leu150Val) c.2437C>G (p.Leu813Val) c.721C>G (p.Leu241Val) | dbSNP gnomAD v4 |
| 2 | g.29220783G= | CA1241089787 | ALK | c.3568C= (p.Leu1190=) c.795C= n.445C= c.364C= (p.Leu122=) c.448C= (p.Leu150=) c.2437C= (p.Leu813=) c.721C= (p.Leu241=) | |
| 2 | g.29220783G>T | CA1593861 | ALK | c.3568C>A (p.Leu1190Met) c.795C>A n.445C>A c.364C>A (p.Leu122Met) c.448C>A (p.Leu150Met) c.2437C>A (p.Leu813Met) c.721C>A (p.Leu241Met) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 2 | g.29220784G>A | CA425619421 | ALK | c.3567C>T (p.Ser1189=) c.794C>T n.444C>T c.363C>T (p.Ser121=) c.447C>T (p.Ser149=) c.2436C>T (p.Ser812=) c.720C>T (p.Ser240=) | ClinVar gnomAD v4 |
| 2 | g.29220784G>C | CA425619420 | ALK | c.3567C>G (p.Ser1189=) c.794C>G n.444C>G c.363C>G (p.Ser121=) c.447C>G (p.Ser149=) c.2436C>G (p.Ser812=) c.720C>G (p.Ser240=) | ClinVar |
| 2 | g.29220784G>T | CA425619419 | ALK | c.3567C>A (p.Ser1189=) c.794C>A n.444C>A c.363C>A (p.Ser121=) c.447C>A (p.Ser149=) c.2436C>A (p.Ser812=) c.720C>A (p.Ser240=) | dbSNP |
| 2 | g.29220785G>A | CA346473094 | ALK | c.3566C>T (p.Ser1189Phe) c.793C>T n.443C>T c.362C>T (p.Ser121Phe) c.446C>T (p.Ser149Phe) c.2435C>T (p.Ser812Phe) c.719C>T (p.Ser240Phe) | dbSNP COSMIC |
| 2 | g.29220785G>C | CA346473093 | ALK | c.3566C>G (p.Ser1189Cys) c.793C>G n.443C>G c.362C>G (p.Ser121Cys) c.446C>G (p.Ser149Cys) c.2435C>G (p.Ser812Cys) c.719C>G (p.Ser240Cys) | dbSNP gnomAD v4 |
| 2 | g.29220785G= | CA1241089788 | ALK | c.3566C= (p.Ser1189=) c.793C= n.443C= c.362C= (p.Ser121=) c.446C= (p.Ser149=) c.2435C= (p.Ser812=) c.719C= (p.Ser240=) | |
| 2 | g.29220785G>T | CA44655575 | ALK | c.3566C>A (p.Ser1189Tyr) c.793C>A n.443C>A c.362C>A (p.Ser121Tyr) c.446C>A (p.Ser149Tyr) c.2435C>A (p.Ser812Tyr) c.719C>A (p.Ser240Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.29220786A>C | CA346473095 | ALK | c.3565T>G (p.Ser1189Ala) c.792T>G n.442T>G c.361T>G (p.Ser121Ala) c.445T>G (p.Ser149Ala) c.2434T>G (p.Ser812Ala) c.718T>G (p.Ser240Ala) | dbSNP |
| 2 | g.29220786A>G | CA346473096 | ALK | c.3565T>C (p.Ser1189Pro) c.792T>C n.442T>C c.361T>C (p.Ser121Pro) c.445T>C (p.Ser149Pro) c.2434T>C (p.Ser812Pro) c.718T>C (p.Ser240Pro) | |
| 2 | g.29220786A>T | CA346473097 | ALK | c.3565T>A (p.Ser1189Thr) c.792T>A n.442T>A c.361T>A (p.Ser121Thr) c.445T>A (p.Ser149Thr) c.2434T>A (p.Ser812Thr) c.718T>A (p.Ser240Thr) | dbSNP |
| 2 | g.29220787T>A | CA346473098 | ALK | c.3564A>T (p.Gln1188His) c.791A>T n.441A>T c.360A>T (p.Gln120His) c.444A>T (p.Gln148His) c.2433A>T (p.Gln811His) c.717A>T (p.Gln239His) | dbSNP gnomAD v4 |
| 2 | g.29220787T>C | CA425619422 | ALK | c.3564A>G (p.Gln1188=) c.791A>G n.441A>G c.360A>G (p.Gln120=) c.444A>G (p.Gln148=) c.2433A>G (p.Gln811=) c.717A>G (p.Gln239=) | dbSNP |
| 2 | g.29220787T>G | CA346473099 | ALK | c.3564A>C (p.Gln1188His) c.791A>C n.441A>C c.360A>C (p.Gln120His) c.444A>C (p.Gln148His) c.2433A>C (p.Gln811His) c.717A>C (p.Gln239His) | dbSNP |
| 2 | g.29220788T>A | CA346473100 | ALK | c.3563A>T (p.Gln1188Leu) c.790A>T n.440A>T c.359A>T (p.Gln120Leu) c.443A>T (p.Gln148Leu) c.2432A>T (p.Gln811Leu) c.716A>T (p.Gln239Leu) | |
| 2 | g.29220788T>C | CA346473101 | ALK | c.3563A>G (p.Gln1188Arg) c.790A>G n.440A>G c.359A>G (p.Gln120Arg) c.443A>G (p.Gln148Arg) c.2432A>G (p.Gln811Arg) c.716A>G (p.Gln239Arg) | ClinVar dbSNP gnomAD v4 |
| 2 | g.29220788T>G | CA346473102 | ALK | c.3563A>C (p.Gln1188Pro) c.790A>C n.440A>C c.359A>C (p.Gln120Pro) c.443A>C (p.Gln148Pro) c.2432A>C (p.Gln811Pro) c.716A>C (p.Gln239Pro) | |
| 2 | g.29220788T= | CA1241089789 | ALK | c.3563A= (p.Gln1188=) c.790A= n.440A= c.359A= (p.Gln120=) c.443A= (p.Gln148=) c.2432A= (p.Gln811=) c.716A= (p.Gln239=) | |
| 2 | g.29220789G>A | CA346473103 | ALK | c.3562C>T (p.Gln1188Ter) c.789C>T n.439C>T c.358C>T (p.Gln120Ter) c.442C>T (p.Gln148Ter) c.2431C>T (p.Gln811Ter) c.715C>T (p.Gln239Ter) | ClinVar dbSNP |
| 2 | g.29220789G>C | CA346473104 | ALK | c.3562C>G (p.Gln1188Glu) c.789C>G n.439C>G c.358C>G (p.Gln120Glu) c.442C>G (p.Gln148Glu) c.2431C>G (p.Gln811Glu) c.715C>G (p.Gln239Glu) | dbSNP |
| 2 | g.29220789G= | CA1241089790 | ALK | c.3562C= (p.Gln1188=) c.789C= n.439C= c.358C= (p.Gln120=) c.442C= (p.Gln148=) c.2431C= (p.Gln811=) c.715C= (p.Gln239=) | |
| 2 | g.29220789G>T | CA346473105 | ALK | c.3562C>A (p.Gln1188Lys) c.789C>A n.439C>A c.358C>A (p.Gln120Lys) c.442C>A (p.Gln148Lys) c.2431C>A (p.Gln811Lys) c.715C>A (p.Gln239Lys) | dbSNP |
| 2 | g.29220790C>A | CA425619423 | ALK | c.3561G>T (p.Leu1187=) c.788G>T n.438G>T c.357G>T (p.Leu119=) c.441G>T (p.Leu147=) c.2430G>T (p.Leu810=) c.714G>T (p.Leu238=) | dbSNP |
| 2 | g.29220790C>G | CA425619424 | ALK | c.3561G>C (p.Leu1187=) c.788G>C n.438G>C c.357G>C (p.Leu119=) c.441G>C (p.Leu147=) c.2430G>C (p.Leu810=) c.714G>C (p.Leu238=) | dbSNP |
| 2 | g.29220790C>T | CA425619425 | ALK | c.3561G>A (p.Leu1187=) c.788G>A n.438G>A c.357G>A (p.Leu119=) c.441G>A (p.Leu147=) c.2430G>A (p.Leu810=) c.714G>A (p.Leu238=) | dbSNP |
| 2 | g.29220791A>C | CA346473108 | ALK | c.3560T>G (p.Leu1187Arg) c.787T>G n.437T>G c.356T>G (p.Leu119Arg) c.440T>G (p.Leu147Arg) c.2429T>G (p.Leu810Arg) c.713T>G (p.Leu238Arg) | |
| 2 | g.29220791A>G | CA346473107 | ALK | c.3560T>C (p.Leu1187Pro) c.787T>C n.437T>C c.356T>C (p.Leu119Pro) c.440T>C (p.Leu147Pro) c.2429T>C (p.Leu810Pro) c.713T>C (p.Leu238Pro) | dbSNP |
| 2 | g.29220791A>T | CA346473106 | ALK | c.3560T>A (p.Leu1187Gln) c.787T>A n.437T>A c.356T>A (p.Leu119Gln) c.440T>A (p.Leu147Gln) c.2429T>A (p.Leu810Gln) c.713T>A (p.Leu238Gln) | dbSNP |
| 2 | g.29220792G>A | CA425619426 | ALK | c.3559C>T (p.Leu1187=) c.786C>T n.436C>T c.355C>T (p.Leu119=) c.439C>T (p.Leu147=) c.2428C>T (p.Leu810=) c.712C>T (p.Leu238=) | gnomAD v4 |
| 2 | g.29220792G>C | CA346473109 | ALK | c.3559C>G (p.Leu1187Val) c.786C>G n.436C>G c.355C>G (p.Leu119Val) c.439C>G (p.Leu147Val) c.2428C>G (p.Leu810Val) c.712C>G (p.Leu238Val) | |
| 2 | g.29220792G>T | CA346473110 | ALK | c.3559C>A (p.Leu1187Met) c.786C>A n.436C>A c.355C>A (p.Leu119Met) c.439C>A (p.Leu147Met) c.2428C>A (p.Leu810Met) c.712C>A (p.Leu238Met) | |
| 2 | g.29220793G>A | CA425619427 | ALK | c.3558C>T (p.Ser1186=) c.785C>T n.435C>T c.354C>T (p.Ser118=) c.438C>T (p.Ser146=) c.2427C>T (p.Ser809=) c.711C>T (p.Ser237=) | dbSNP |
| 2 | g.29220793G>C | CA346473111 | ALK | c.3558C>G (p.Ser1186Arg) c.785C>G n.435C>G c.354C>G (p.Ser118Arg) c.438C>G (p.Ser146Arg) c.2427C>G (p.Ser809Arg) c.711C>G (p.Ser237Arg) | dbSNP |
| 2 | g.29220793G>T | CA346473112 | ALK | c.3558C>A (p.Ser1186Arg) c.785C>A n.435C>A c.354C>A (p.Ser118Arg) c.438C>A (p.Ser146Arg) c.2427C>A (p.Ser809Arg) c.711C>A (p.Ser237Arg) | |
| 2 | g.29220794C>A | CA346473113 | ALK | c.3557G>T (p.Ser1186Ile) c.784G>T n.434G>T c.353G>T (p.Ser118Ile) c.437G>T (p.Ser146Ile) c.2426G>T (p.Ser809Ile) c.710G>T (p.Ser237Ile) | dbSNP |
| 2 | g.29220794C= | CA1241089791 | ALK | c.3557G= (p.Ser1186=) c.784G= n.434G= c.353G= (p.Ser118=) c.437G= (p.Ser146=) c.2426G= (p.Ser809=) c.710G= (p.Ser237=) |