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 |
|---|---|---|---|---|---|
| 3 | g.148741887G>A | CA354889363 | AGTR1 | c.852G>A (p.Met284Ile) c.939G>A (p.Met313Ile) c.957G>A (p.Met319Ile) | |
| 3 | g.148741887G>C | CA354889364 | AGTR1 | c.852G>C (p.Met284Ile) c.939G>C (p.Met313Ile) c.957G>C (p.Met319Ile) | |
| 3 | g.148741887G>T | CA354889365 | AGTR1 | c.852G>T (p.Met284Ile) c.939G>T (p.Met313Ile) c.957G>T (p.Met319Ile) | |
| 3 | g.148741888C>A | CA354889366 | AGTR1 | c.853C>A (p.Pro285Thr) c.940C>A (p.Pro314Thr) c.958C>A (p.Pro320Thr) | |
| 3 | g.148741888C>G | CA354889367 | AGTR1 | c.853C>G (p.Pro285Ala) c.940C>G (p.Pro314Ala) c.958C>G (p.Pro320Ala) | |
| 3 | g.148741888C>T | CA354889368 | AGTR1 | c.853C>T (p.Pro285Ser) c.940C>T (p.Pro314Ser) c.958C>T (p.Pro320Ser) | |
| 3 | g.148741889C>A | CA354889369 | AGTR1 | c.854C>A (p.Pro285His) c.941C>A (p.Pro314His) c.959C>A (p.Pro320His) | |
| 3 | g.148741889C>G | CA354889371 | AGTR1 | c.854C>G (p.Pro285Arg) c.941C>G (p.Pro314Arg) c.959C>G (p.Pro320Arg) | gnomAD v4 |
| 3 | g.148741889C>T | CA354889370 | AGTR1 | c.854C>T (p.Pro285Leu) c.941C>T (p.Pro314Leu) c.959C>T (p.Pro320Leu) | |
| 3 | g.148741890T>A | CA2657398 | AGTR1 | c.855T>A (p.Pro285=) c.942T>A (p.Pro314=) c.960T>A (p.Pro320=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.148741890T>C | CA85498531 | AGTR1 | c.855T>C (p.Pro285=) c.942T>C (p.Pro314=) c.960T>C (p.Pro320=) | dbSNP gnomAD v4 |
| 3 | g.148741890T>G | CA436389700 | AGTR1 | c.855T>G (p.Pro285=) c.942T>G (p.Pro314=) c.960T>G (p.Pro320=) | |
| 3 | g.148741890T= | CA1409910266 | AGTR1 | c.855T= (p.Pro285=) c.942T= (p.Pro314=) c.960T= (p.Pro320=) | |
| 3 | g.148741891A= | CA1409910269 | AGTR1 | c.856A= (p.Ile286=) c.943A= (p.Ile315=) c.961A= (p.Ile321=) | |
| 3 | g.148741891A>C | CA354889372 | AGTR1 | c.856A>C (p.Ile286Leu) c.943A>C (p.Ile315Leu) c.961A>C (p.Ile321Leu) | |
| 3 | g.148741891A>G | CA354889373 | AGTR1 | c.856A>G (p.Ile286Val) c.943A>G (p.Ile315Val) c.961A>G (p.Ile321Val) | dbSNP gnomAD v4 |
| 3 | g.148741891A>T | CA354889374 | AGTR1 | c.856A>T (p.Ile286Phe) c.943A>T (p.Ile315Phe) c.961A>T (p.Ile321Phe) | |
| 3 | g.148741891_148741894dup | CA2668116566 | AGTR1 | c.856_859dup (p.Thr287AsnfsTer9) c.943_946dup (p.Thr316AsnfsTer9) c.961_964dup (p.Thr322AsnfsTer9) | gnomAD v4 |
| 3 | g.148741892T>A | CA354889375 | AGTR1 | c.857T>A (p.Ile286Asn) c.944T>A (p.Ile315Asn) c.962T>A (p.Ile321Asn) | |
| 3 | g.148741892T>C | CA354889376 | AGTR1 | c.857T>C (p.Ile286Thr) c.944T>C (p.Ile315Thr) c.962T>C (p.Ile321Thr) | |
| 3 | g.148741892T>G | CA354889377 | AGTR1 | c.857T>G (p.Ile286Ser) c.944T>G (p.Ile315Ser) c.962T>G (p.Ile321Ser) | |
| 3 | g.148741893C>A | CA436389821 | AGTR1 | c.858C>A (p.Ile286=) c.945C>A (p.Ile315=) c.963C>A (p.Ile321=) | |
| 3 | g.148741893C>G | CA354889378 | AGTR1 | c.858C>G (p.Ile286Met) c.945C>G (p.Ile315Met) c.963C>G (p.Ile321Met) | |
| 3 | g.148741893C>T | CA436389823 | AGTR1 | c.858C>T (p.Ile286=) c.945C>T (p.Ile315=) c.963C>T (p.Ile321=) | |
| 3 | g.148741894A>C | CA354889379 | AGTR1 | c.859A>C (p.Thr287Pro) c.946A>C (p.Thr316Pro) c.964A>C (p.Thr322Pro) | |
| 3 | g.148741894A>G | CA354889380 | AGTR1 | c.859A>G (p.Thr287Ala) c.946A>G (p.Thr316Ala) c.964A>G (p.Thr322Ala) | |
| 3 | g.148741894A>T | CA354889381 | AGTR1 | c.859A>T (p.Thr287Ser) c.946A>T (p.Thr316Ser) c.964A>T (p.Thr322Ser) | |
| 3 | g.148741895C>A | CA354889383 | AGTR1 | c.860C>A (p.Thr287Asn) c.947C>A (p.Thr316Asn) c.965C>A (p.Thr322Asn) | |
| 3 | g.148741895C= | CA1409910272 | AGTR1 | c.860C= (p.Thr287=) c.947C= (p.Thr316=) c.965C= (p.Thr322=) | |
| 3 | g.148741895C>G | CA354889382 | AGTR1 | c.860C>G (p.Thr287Ser) c.947C>G (p.Thr316Ser) c.965C>G (p.Thr322Ser) | |
| 3 | g.148741895C>T | CA2657399 | AGTR1 | c.860C>T (p.Thr287Ile) c.947C>T (p.Thr316Ile) c.965C>T (p.Thr322Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.148741896C>A | CA436389829 | AGTR1 | c.861C>A (p.Thr287=) c.948C>A (p.Thr316=) c.966C>A (p.Thr322=) | |
| 3 | g.148741896C>G | CA436389830 | AGTR1 | c.861C>G (p.Thr287=) c.948C>G (p.Thr316=) c.966C>G (p.Thr322=) | |
| 3 | g.148741896C>T | CA436389831 | AGTR1 | c.861C>T (p.Thr287=) c.948C>T (p.Thr316=) c.966C>T (p.Thr322=) | |
| 3 | g.148741897A= | CA1409910275 | AGTR1 | c.862A= (p.Ile288=) c.949A= (p.Ile317=) c.967A= (p.Ile323=) | |
| 3 | g.148741897A>C | CA354889384 | AGTR1 | c.862A>C (p.Ile288Leu) c.949A>C (p.Ile317Leu) c.967A>C (p.Ile323Leu) | |
| 3 | g.148741897A>G | CA2657400 | AGTR1 | c.862A>G (p.Ile288Val) c.949A>G (p.Ile317Val) c.967A>G (p.Ile323Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.148741897A>T | CA354889385 | AGTR1 | c.862A>T (p.Ile288Phe) c.949A>T (p.Ile317Phe) c.967A>T (p.Ile323Phe) | |
| 3 | g.148741898T>A | CA354889386 | AGTR1 | c.863T>A (p.Ile288Asn) c.950T>A (p.Ile317Asn) c.968T>A (p.Ile323Asn) | |
| 3 | g.148741898T>C | CA354889387 | AGTR1 | c.863T>C (p.Ile288Thr) c.950T>C (p.Ile317Thr) c.968T>C (p.Ile323Thr) | |
| 3 | g.148741898T>G | CA354889388 | AGTR1 | c.863T>G (p.Ile288Ser) c.950T>G (p.Ile317Ser) c.968T>G (p.Ile323Ser) | |
| 3 | g.148741899T>A | CA436389832 | AGTR1 | c.864T>A (p.Ile288=) c.951T>A (p.Ile317=) c.969T>A (p.Ile323=) | |
| 3 | g.148741899T>C | CA436389834 | AGTR1 | c.864T>C (p.Ile288=) c.951T>C (p.Ile317=) c.969T>C (p.Ile323=) | |
| 3 | g.148741899T>G | CA2657401 | AGTR1 | c.864T>G (p.Ile288Met) c.951T>G (p.Ile317Met) c.969T>G (p.Ile323Met) | dbSNP ExAC gnomAD v2 |
| 3 | g.148741899T= | CA1409910278 | AGTR1 | c.864T= (p.Ile288=) c.951T= (p.Ile317=) c.969T= (p.Ile323=) | |
| 3 | g.148741900T>A | CA354889389 | AGTR1 | c.865T>A (p.Cys289Ser) c.952T>A (p.Cys318Ser) c.970T>A (p.Cys324Ser) | |
| 3 | g.148741900T>C | CA354889391 | AGTR1 | c.865T>C (p.Cys289Arg) c.952T>C (p.Cys318Arg) c.970T>C (p.Cys324Arg) | COSMIC |
| 3 | g.148741900T>G | CA354889393 | AGTR1 | c.865T>G (p.Cys289Gly) c.952T>G (p.Cys318Gly) c.970T>G (p.Cys324Gly) | |
| 3 | g.148741901G>A | CA2657402 | AGTR1 | c.866G>A (p.Cys289Tyr) c.953G>A (p.Cys318Tyr) c.971G>A (p.Cys324Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.148741901G>C | CA354889396 | AGTR1 | c.866G>C (p.Cys289Ser) c.953G>C (p.Cys318Ser) c.971G>C (p.Cys324Ser) |