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 |
|---|---|---|---|---|---|
| 14 | g.94382917G>A | CA487841263 | SERPINA1 | c.321C>T (p.Asn107=) c.63C>T (p.Asn21=) | ClinVar dbSNP gnomAD v4 |
| 14 | g.94382917G>C | CA390850316 | SERPINA1 | c.321C>G (p.Asn107Lys) c.63C>G (p.Asn21Lys) | |
| 14 | g.94382917G= | CA2155954844 | SERPINA1 | c.321C= (p.Asn107=) c.63C= (p.Asn21=) | |
| 14 | g.94382917G>T | CA390850317 | SERPINA1 | c.321C>A (p.Asn107Lys) c.63C>A (p.Asn21Lys) | |
| 14 | g.94382918T>A | CA390850318 | SERPINA1 | c.320A>T (p.Asn107Ile) c.62A>T (p.Asn21Ile) | |
| 14 | g.94382918T>C | CA390850319 | SERPINA1 | c.320A>G (p.Asn107Ser) c.62A>G (p.Asn21Ser) | |
| 14 | g.94382918T>G | CA390850320 | SERPINA1 | c.320A>C (p.Asn107Thr) c.62A>C (p.Asn21Thr) | |
| 14 | g.94382919T>A | CA390850321 | SERPINA1 | c.319A>T (p.Asn107Tyr) c.61A>T (p.Asn21Tyr) | |
| 14 | g.94382919T>C | CA390850322 | SERPINA1 | c.319A>G (p.Asn107Asp) c.61A>G (p.Asn21Asp) | |
| 14 | g.94382919T>G | CA390850323 | SERPINA1 | c.319A>C (p.Asn107His) c.61A>C (p.Asn21His) | |
| 14 | g.94382920G>A | CA487841277 | SERPINA1 | c.318C>T (p.Phe106=) c.60C>T (p.Phe20=) | ClinVar dbSNP gnomAD v2 COSMIC |
| 14 | g.94382920G>C | CA390850324 | SERPINA1 | c.318C>G (p.Phe106Leu) c.60C>G (p.Phe20Leu) | |
| 14 | g.94382920G= | CA2155954845 | SERPINA1 | c.318C= (p.Phe106=) c.60C= (p.Phe20=) | |
| 14 | g.94382920G>T | CA390850325 | SERPINA1 | c.318C>A (p.Phe106Leu) c.60C>A (p.Phe20Leu) | dbSNP |
| 14 | g.94382921A>C | CA390850326 | SERPINA1 | c.317T>G (p.Phe106Cys) c.59T>G (p.Phe20Cys) | |
| 14 | g.94382921A>G | CA390850327 | SERPINA1 | c.317T>C (p.Phe106Ser) c.59T>C (p.Phe20Ser) | |
| 14 | g.94382921A>T | CA390850328 | SERPINA1 | c.317T>A (p.Phe106Tyr) c.59T>A (p.Phe20Tyr) | |
| 14 | g.94382922A>C | CA390850331 | SERPINA1 | c.316T>G (p.Phe106Val) c.58T>G (p.Phe20Val) | |
| 14 | g.94382922A>G | CA390850330 | SERPINA1 | c.316T>C (p.Phe106Leu) c.58T>C (p.Phe20Leu) | |
| 14 | g.94382922A>T | CA390850329 | SERPINA1 | c.316T>A (p.Phe106Ile) c.58T>A (p.Phe20Ile) | |
| 14 | g.94382923A>C | CA390850332 | SERPINA1 | c.315T>G (p.Asn105Lys) c.57T>G (p.Asn19Lys) | |
| 14 | g.94382923A>G | CA487841283 | SERPINA1 | c.315T>C (p.Asn105=) c.57T>C (p.Asn19=) | |
| 14 | g.94382923A>T | CA390850333 | SERPINA1 | c.315T>A (p.Asn105Lys) c.57T>A (p.Asn19Lys) | |
| 14 | g.94382924T>A | CA390850334 | SERPINA1 | c.314A>T (p.Asn105Ile) c.56A>T (p.Asn19Ile) | |
| 14 | g.94382924T>C | CA390850335 | SERPINA1 | c.314A>G (p.Asn105Ser) c.56A>G (p.Asn19Ser) | |
| 14 | g.94382924T>G | CA390850336 | SERPINA1 | c.314A>C (p.Asn105Thr) c.56A>C (p.Asn19Thr) | |
| 14 | g.94382925T>A | CA390850337 | SERPINA1 | c.313A>T (p.Asn105Tyr) c.55A>T (p.Asn19Tyr) | |
| 14 | g.94382925T>C | CA7327516 | SERPINA1 | c.313A>G (p.Asn105Asp) c.55A>G (p.Asn19Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94382925T>G | CA390850338 | SERPINA1 | c.313A>C (p.Asn105His) c.55A>C (p.Asn19His) | |
| 14 | g.94382925T= | CA2155954846 | SERPINA1 | c.313A= (p.Asn105=) c.55A= (p.Asn19=) | |
| 14 | g.94382926C>A | CA487841290 | SERPINA1 | c.312G>T (p.Leu104=) c.54G>T (p.Leu18=) | |
| 14 | g.94382926C>G | CA487841289 | SERPINA1 | c.312G>C (p.Leu104=) c.54G>C (p.Leu18=) | |
| 14 | g.94382926C>T | CA487841288 | SERPINA1 | c.312G>A (p.Leu104=) c.54G>A (p.Leu18=) | |
| 14 | g.94382927A>C | CA390850339 | SERPINA1 | c.311T>G (p.Leu104Arg) c.53T>G (p.Leu18Arg) | |
| 14 | g.94382927A>G | CA390850340 | SERPINA1 | c.311T>C (p.Leu104Pro) c.53T>C (p.Leu18Pro) | |
| 14 | g.94382927A>T | CA390850341 | SERPINA1 | c.311T>A (p.Leu104Gln) c.53T>A (p.Leu18Gln) | |
| 14 | g.94382928G>A | CA487841292 | SERPINA1 | c.310C>T (p.Leu104=) c.52C>T (p.Leu18=) | gnomAD v4 |
| 14 | g.94382928G>C | CA390850342 | SERPINA1 | c.310C>G (p.Leu104Val) c.52C>G (p.Leu18Val) | |
| 14 | g.94382928G>T | CA390850343 | SERPINA1 | c.310C>A (p.Leu104Met) c.52C>A (p.Leu18Met) | |
| 14 | g.94382929G>A | CA487841298 | SERPINA1 | c.309C>T (p.Gly103=) c.51C>T (p.Gly17=) | |
| 14 | g.94382929G>C | CA487841296 | SERPINA1 | c.309C>G (p.Gly103=) c.51C>G (p.Gly17=) | |
| 14 | g.94382929G>T | CA487841295 | SERPINA1 | c.309C>A (p.Gly103=) c.51C>A (p.Gly17=) | |
| 14 | g.94382930C>A | CA390850345 | SERPINA1 | c.308G>T (p.Gly103Val) c.50G>T (p.Gly17Val) | gnomAD v4 |
| 14 | g.94382930C>G | CA390850346 | SERPINA1 | c.308G>C (p.Gly103Ala) c.50G>C (p.Gly17Ala) | |
| 14 | g.94382930C>T | CA390850344 | SERPINA1 | c.308G>A (p.Gly103Asp) c.50G>A (p.Gly17Asp) | |
| 14 | g.94382932del | CA2730054620 | SERPINA1 | c.308del (p.Gly103AlafsTer2) c.50del (p.Gly17AlafsTer2) | dbSNP |
| 14 | g.94382931C>A | CA390850347 | SERPINA1 | c.307G>T (p.Gly103Cys) c.49G>T (p.Gly17Cys) | |
| 14 | g.94382931C>G | CA390850348 | SERPINA1 | c.307G>C (p.Gly103Arg) c.49G>C (p.Gly17Arg) | |
| 14 | g.94382931C>T | CA390850349 | SERPINA1 | c.307G>A (p.Gly103Ser) c.49G>A (p.Gly17Ser) | |
| 14 | g.94382932C>A | CA390850350 | SERPINA1 | c.306G>T (p.Glu102Asp) c.48G>T (p.Glu16Asp) |