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 |
|---|---|---|---|---|---|
| 22 | g.19962624T>A | CA410688555 | COMT | c.98T>A (p.Leu33Gln) c.-53T>A (n.-53T>A) n.294T>A c.212T>A (p.Leu71Gln) c.509T>A (p.Leu170Gln) | gnomAD v4 |
| 22 | g.19962624T>C | CA410688554 | COMT | c.98T>C (p.Leu33Pro) c.-53T>C (n.-53T>C) n.294T>C c.212T>C (p.Leu71Pro) c.509T>C (p.Leu170Pro) | dbSNP gnomAD v4 |
| 22 | g.19962624T>G | CA410688553 | COMT | c.98T>G (p.Leu33Arg) c.-53T>G (n.-53T>G) n.294T>G c.212T>G (p.Leu71Arg) c.509T>G (p.Leu170Arg) | |
| 22 | g.19962624T= | CA2396125214 | COMT | c.98T= (p.Leu33=) c.-53T= (n.-53T=) n.294T= c.212T= (p.Leu71=) c.509T= (p.Leu170=) | |
| 22 | g.19962624dup | CA10104459 | COMT | c.98dup (p.Cys34ValfsTer20) c.-53dup (n.-53dup) n.294dup c.212dup (p.Cys72ValfsTer20) c.509dup (p.Cys171ValfsTer20) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19962625G>A | CA322120783 | COMT | c.99G>A (p.Leu33=) c.-52G>A (n.-52G>A) n.295G>A c.213G>A (p.Leu71=) c.510G>A (p.Leu170=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.19962625G>C | CA513688362 | COMT | c.99G>C (p.Leu33=) c.-52G>C (n.-52G>C) n.295G>C c.213G>C (p.Leu71=) c.510G>C (p.Leu170=) | |
| 22 | g.19962625G= | CA2396125215 | COMT | c.99G= (p.Leu33=) c.-52G= (n.-52G=) n.295G= c.213G= (p.Leu71=) c.510G= (p.Leu170=) | |
| 22 | g.19962625G>T | CA513688361 | COMT | c.99G>T (p.Leu33=) c.-52G>T (n.-52G>T) n.295G>T c.213G>T (p.Leu71=) c.510G>T (p.Leu170=) | |
| 22 | g.19962626T>A | CA410688557 | COMT | c.100T>A (p.Cys34Ser) c.-51T>A (n.-51T>A) n.296T>A c.214T>A (p.Cys72Ser) c.511T>A (p.Cys171Ser) | |
| 22 | g.19962626T>C | CA410688556 | COMT | c.100T>C (p.Cys34Arg) c.-51T>C (n.-51T>C) n.296T>C c.214T>C (p.Cys72Arg) c.511T>C (p.Cys171Arg) | |
| 22 | g.19962626T>G | CA410688558 | COMT | c.100T>G (p.Cys34Gly) c.-51T>G (n.-51T>G) n.296T>G c.214T>G (p.Cys72Gly) c.511T>G (p.Cys171Gly) | |
| 22 | g.19962627G>A | CA410688559 | COMT | c.101G>A (p.Cys34Tyr) c.-50G>A (n.-50G>A) n.297G>A c.215G>A (p.Cys72Tyr) c.512G>A (p.Cys171Tyr) | gnomAD v4 |
| 22 | g.19962627G>C | CA322120785 | COMT | c.101G>C (p.Cys34Ser) c.-50G>C (n.-50G>C) n.297G>C c.215G>C (p.Cys72Ser) c.512G>C (p.Cys171Ser) | dbSNP |
| 22 | g.19962627G= | CA1139772249 | COMT | c.101G= (p.Cys34=) c.-50G= (n.-50G=) n.297G= c.215G= (p.Cys72=) c.512G= (p.Cys171=) | |
| 22 | g.19962627G>T | CA410688560 | COMT | c.101G>T (p.Cys34Phe) c.-50G>T (n.-50G>T) n.297G>T c.215G>T (p.Cys72Phe) c.512G>T (p.Cys171Phe) | |
| 22 | g.19962628C>A | CA410688561 | COMT | c.102C>A (p.Cys34Ter) c.-49C>A (n.-49C>A) n.298C>A c.216C>A (p.Cys72Ter) c.513C>A (p.Cys171Ter) | |
| 22 | g.19962628C>G | CA410688562 | COMT | c.102C>G (p.Cys34Trp) c.-49C>G (n.-49C>G) n.298C>G c.216C>G (p.Cys72Trp) c.513C>G (p.Cys171Trp) | |
| 22 | g.19962628C>T | CA513688368 | COMT | c.102C>T (p.Cys34=) c.-49C>T (n.-49C>T) n.298C>T c.216C>T (p.Cys72=) c.513C>T (p.Cys171=) | gnomAD v4 |
| 22 | g.19962629C>A | CA410688563 | COMT | c.103C>A (p.Leu35Ile) c.-48C>A (n.-48C>A) n.299C>A c.217C>A (p.Leu73Ile) c.514C>A (p.Leu172Ile) | |
| 22 | g.19962629C= | CA2396125216 | COMT | c.103C= (p.Leu35=) c.-48C= (n.-48C=) n.299C= c.217C= (p.Leu73=) c.514C= (p.Leu172=) | |
| 22 | g.19962629C>G | CA410688564 | COMT | c.103C>G (p.Leu35Val) c.-48C>G (n.-48C>G) n.299C>G c.217C>G (p.Leu73Val) c.514C>G (p.Leu172Val) | |
| 22 | g.19962629C>T | CA10104460 | COMT | c.103C>T (p.Leu35Phe) c.-48C>T (n.-48C>T) n.299C>T c.217C>T (p.Leu73Phe) c.514C>T (p.Leu172Phe) | dbSNP ExAC |
| 22 | g.19962630T>A | CA410688565 | COMT | c.104T>A (p.Leu35His) c.-47T>A (n.-47T>A) n.300T>A c.218T>A (p.Leu73His) c.515T>A (p.Leu172His) | |
| 22 | g.19962630T>C | CA410688566 | COMT | c.104T>C (p.Leu35Pro) c.-47T>C (n.-47T>C) n.300T>C c.218T>C (p.Leu73Pro) c.515T>C (p.Leu172Pro) | |
| 22 | g.19962630T>G | CA410688567 | COMT | c.104T>G (p.Leu35Arg) c.-47T>G (n.-47T>G) n.300T>G c.218T>G (p.Leu73Arg) c.515T>G (p.Leu172Arg) | |
| 22 | g.19962631T>A | CA513688380 | COMT | c.105T>A (p.Leu35=) c.-46T>A (n.-46T>A) n.301T>A c.219T>A (p.Leu73=) c.516T>A (p.Leu172=) | |
| 22 | g.19962631T>C | CA513688379 | COMT | c.105T>C (p.Leu35=) c.-46T>C (n.-46T>C) n.301T>C c.219T>C (p.Leu73=) c.516T>C (p.Leu172=) | dbSNP |
| 22 | g.19962631T>G | CA513688377 | COMT | c.105T>G (p.Leu35=) c.-46T>G (n.-46T>G) n.301T>G c.219T>G (p.Leu73=) c.516T>G (p.Leu172=) | |
| 22 | g.19962631T= | CA2396125217 | COMT | c.105T= (p.Leu35=) c.-46T= (n.-46T=) n.301T= c.219T= (p.Leu73=) c.516T= (p.Leu172=) | |
| 22 | g.19962632A= | CA2396125218 | COMT | c.106A= (p.Ile36=) c.-45A= (n.-45A=) n.302A= c.220A= (p.Ile74=) c.517A= (p.Ile173=) | |
| 22 | g.19962632A>C | CA10104461 | COMT | c.106A>C (p.Ile36Leu) c.-45A>C (n.-45A>C) n.302A>C c.220A>C (p.Ile74Leu) c.517A>C (p.Ile173Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19962632A>G | CA410688569 | COMT | c.106A>G (p.Ile36Val) c.-45A>G (n.-45A>G) n.302A>G c.220A>G (p.Ile74Val) c.517A>G (p.Ile173Val) | gnomAD v4 |
| 22 | g.19962632A>T | CA410688568 | COMT | c.106A>T (p.Ile36Phe) c.-45A>T (n.-45A>T) n.302A>T c.220A>T (p.Ile74Phe) c.517A>T (p.Ile173Phe) | |
| 22 | g.19962633T>A | CA410688570 | COMT | c.107T>A (p.Ile36Asn) c.-44T>A (n.-44T>A) n.303T>A c.221T>A (p.Ile74Asn) c.518T>A (p.Ile173Asn) | |
| 22 | g.19962633T>C | CA410688571 | COMT | c.107T>C (p.Ile36Thr) c.-44T>C (n.-44T>C) n.303T>C c.221T>C (p.Ile74Thr) c.518T>C (p.Ile173Thr) | |
| 22 | g.19962633T>G | CA410688572 | COMT | c.107T>G (p.Ile36Ser) c.-44T>G (n.-44T>G) n.303T>G c.221T>G (p.Ile74Ser) c.518T>G (p.Ile173Ser) | |
| 22 | g.19962634C>A | CA513688388 | COMT | c.108C>A (p.Ile36=) c.-43C>A (n.-43C>A) n.304C>A c.222C>A (p.Ile74=) c.519C>A (p.Ile173=) | |
| 22 | g.19962634C= | CA2396125219 | COMT | c.108C= (p.Ile36=) c.-43C= (n.-43C=) n.304C= c.222C= (p.Ile74=) c.519C= (p.Ile173=) | |
| 22 | g.19962634C>G | CA410688573 | COMT | c.108C>G (p.Ile36Met) c.-43C>G (n.-43C>G) n.304C>G c.222C>G (p.Ile74Met) c.519C>G (p.Ile173Met) | gnomAD v4 |
| 22 | g.19962634C>T | CA10104462 | COMT | c.108C>T (p.Ile36=) c.-43C>T (n.-43C>T) n.304C>T c.222C>T (p.Ile74=) c.519C>T (p.Ile173=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.19962634_19962635insTT | CA2655332815 | COMT | c.108_109insTT (p.Gly37LeufsTer25) c.-43_-42insTT (n.-43_-42insTT) n.304_305insTT c.222_223insTT (p.Gly75LeufsTer25) c.519_520insTT (p.Gly174LeufsTer25) | gnomAD v4 |
| 22 | g.19962635G>A | CA10104463 | COMT | c.109G>A (p.Gly37Ser) c.-42G>A (n.-42G>A) n.305G>A c.223G>A (p.Gly75Ser) c.520G>A (p.Gly174Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19962635G>C | CA410688574 | COMT | c.109G>C (p.Gly37Arg) c.-42G>C (n.-42G>C) n.305G>C c.223G>C (p.Gly75Arg) c.520G>C (p.Gly174Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19962635G= | CA2396125220 | COMT | c.109G= (p.Gly37=) c.-42G= (n.-42G=) n.305G= c.223G= (p.Gly75=) c.520G= (p.Gly174=) | |
| 22 | g.19962635G>T | CA410688575 | COMT | c.109G>T (p.Gly37Cys) c.-42G>T (n.-42G>T) n.305G>T c.223G>T (p.Gly75Cys) c.520G>T (p.Gly174Cys) | COSMIC |
| 22 | g.19962636G>A | CA410688576 | COMT | c.110G>A (p.Gly37Asp) c.-41G>A (n.-41G>A) n.306G>A c.224G>A (p.Gly75Asp) c.521G>A (p.Gly174Asp) | gnomAD v4 |
| 22 | g.19962636G>C | CA410688577 | COMT | c.110G>C (p.Gly37Ala) c.-41G>C (n.-41G>C) n.306G>C c.224G>C (p.Gly75Ala) c.521G>C (p.Gly174Ala) | |
| 22 | g.19962636G>T | CA410688578 | COMT | c.110G>T (p.Gly37Val) c.-41G>T (n.-41G>T) n.306G>T c.224G>T (p.Gly75Val) c.521G>T (p.Gly174Val) | gnomAD v4 |
| 22 | g.19962637C>A | CA513688399 | COMT | c.111C>A (p.Gly37=) c.-40C>A (n.-40C>A) n.307C>A c.225C>A (p.Gly75=) c.522C>A (p.Gly174=) |