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 |
|---|---|---|---|---|---|
| 6 | g.36684475A>C | CA363834566 | CDKN1A | c.374A>C (p.Glu125Ala) n.568A>C n.593A>C c.476A>C (p.Glu159Ala) c.413A>C (p.Glu138Ala) | |
| 6 | g.36684475A>G | CA363834568 | CDKN1A | c.374A>G (p.Glu125Gly) n.568A>G n.593A>G c.476A>G (p.Glu159Gly) c.413A>G (p.Glu138Gly) | dbSNP gnomAD v4 |
| 6 | g.36684475A>T | CA363834567 | CDKN1A | c.374A>T (p.Glu125Val) n.568A>T n.593A>T c.476A>T (p.Glu159Val) c.413A>T (p.Glu138Val) | |
| 6 | g.36684476G>A | CA450129513 | CDKN1A | c.375G>A (p.Glu125=) n.569G>A n.594G>A c.477G>A (p.Glu159=) c.414G>A (p.Glu138=) | dbSNP |
| 6 | g.36684476G>C | CA363834569 | CDKN1A | c.375G>C (p.Glu125Asp) n.569G>C n.594G>C c.477G>C (p.Glu159Asp) c.414G>C (p.Glu138Asp) | |
| 6 | g.36684476G>T | CA363834570 | CDKN1A | c.375G>T (p.Glu125Asp) n.569G>T n.594G>T c.477G>T (p.Glu159Asp) c.414G>T (p.Glu138Asp) | |
| 6 | g.36684477C>A | CA363834571 | CDKN1A | c.376C>A (p.Gln126Lys) n.570C>A n.595C>A c.478C>A (p.Gln160Lys) c.415C>A (p.Gln139Lys) | dbSNP |
| 6 | g.36684477C= | CA1621457051 | CDKN1A | c.376C= (p.Gln126=) n.570C= n.595C= c.478C= (p.Gln160=) c.415C= (p.Gln139=) | |
| 6 | g.36684477C>G | CA363834572 | CDKN1A | c.376C>G (p.Gln126Glu) n.570C>G n.595C>G c.478C>G (p.Gln160Glu) c.415C>G (p.Gln139Glu) | dbSNP |
| 6 | g.36684477C>T | CA363834573 | CDKN1A | c.376C>T (p.Gln126Ter) n.570C>T n.595C>T c.478C>T (p.Gln160Ter) c.415C>T (p.Gln139Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.36684478A= | CA1621457052 | CDKN1A | c.377A= (p.Gln126=) n.571A= n.596A= c.479A= (p.Gln160=) c.416A= (p.Gln139=) | |
| 6 | g.36684478A>C | CA363834574 | CDKN1A | c.377A>C (p.Gln126Pro) n.571A>C n.596A>C c.479A>C (p.Gln160Pro) c.416A>C (p.Gln139Pro) | |
| 6 | g.36684478A>G | CA363834575 | CDKN1A | c.377A>G (p.Gln126Arg) n.571A>G n.596A>G c.479A>G (p.Gln160Arg) c.416A>G (p.Gln139Arg) | dbSNP |
| 6 | g.36684478A>T | CA363834576 | CDKN1A | c.377A>T (p.Gln126Leu) n.571A>T n.596A>T c.479A>T (p.Gln160Leu) c.416A>T (p.Gln139Leu) | |
| 6 | g.36684478_36684479insCAA | CA3780395 | CDKN1A | c.377_378insCAA (p.Gln126delinsHisLys) n.571_572insCAA n.596_597insCAA c.479_480insCAA (p.Gln160delinsHisLys) c.416_417insCAA (p.Gln139delinsHisLys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36684478_36684479insCAAGGG | CA1621457053 | CDKN1A | c.377_378insCAAGGG (p.Gln126delinsHisLysGly) n.571_572insCAAGGG n.596_597insCAAGGG c.479_480insCAAGGG (p.Gln160delinsHisLysGly) c.416_417insCAAGGG (p.Gln139delinsHisLysGly) | dbSNP |
| 6 | g.36684479G>A | CA450129514 | CDKN1A | c.378G>A (p.Gln126=) n.572G>A n.597G>A c.480G>A (p.Gln160=) c.417G>A (p.Gln139=) | dbSNP |
| 6 | g.36684479G>C | CA363834577 | CDKN1A | c.378G>C (p.Gln126His) n.572G>C n.597G>C c.480G>C (p.Gln160His) c.417G>C (p.Gln139His) | |
| 6 | g.36684479G= | CA1621457054 | CDKN1A | c.378G= (p.Gln126=) n.572G= n.597G= c.480G= (p.Gln160=) c.417G= (p.Gln139=) | |
| 6 | g.36684479G>T | CA363834578 | CDKN1A | c.378G>T (p.Gln126His) n.572G>T n.597G>T c.480G>T (p.Gln160His) c.417G>T (p.Gln139His) | gnomAD v4 |
| 6 | g.36684480G>A | CA363834581 | CDKN1A | c.379G>A (p.Ala127Thr) n.573G>A n.598G>A c.481G>A (p.Ala161Thr) c.418G>A (p.Ala140Thr) | dbSNP gnomAD v2 |
| 6 | g.36684480G>C | CA363834579 | CDKN1A | c.379G>C (p.Ala127Pro) n.573G>C n.598G>C c.481G>C (p.Ala161Pro) c.418G>C (p.Ala140Pro) | dbSNP |
| 6 | g.36684480G= | CA1621457055 | CDKN1A | c.379G= (p.Ala127=) n.573G= n.598G= c.481G= (p.Ala161=) c.418G= (p.Ala140=) | |
| 6 | g.36684480G>T | CA363834580 | CDKN1A | c.379G>T (p.Ala127Ser) n.573G>T n.598G>T c.481G>T (p.Ala161Ser) c.418G>T (p.Ala140Ser) | gnomAD v4 |
| 6 | g.36684480_36684481insGAG | CA3780396 | CDKN1A | c.379_380insGAG (p.Gln126_Ala127insGly) n.573_574insGAG n.598_599insGAG c.481_482insGAG (p.Gln160_Ala161insGly) c.418_419insGAG (p.Gln139_Ala140insGly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36684481C>A | CA363834582 | CDKN1A | c.380C>A (p.Ala127Asp) n.574C>A n.599C>A c.482C>A (p.Ala161Asp) c.419C>A (p.Ala140Asp) | |
| 6 | g.36684481C>G | CA363834583 | CDKN1A | c.380C>G (p.Ala127Gly) n.574C>G n.599C>G c.482C>G (p.Ala161Gly) c.419C>G (p.Ala140Gly) | |
| 6 | g.36684481C>T | CA363834584 | CDKN1A | c.380C>T (p.Ala127Val) n.574C>T n.599C>T c.482C>T (p.Ala161Val) c.419C>T (p.Ala140Val) | |
| 6 | g.36684482T>A | CA450129517 | CDKN1A | c.381T>A (p.Ala127=) n.575T>A n.600T>A c.483T>A (p.Ala161=) c.420T>A (p.Ala140=) | |
| 6 | g.36684482T>C | CA450129516 | CDKN1A | c.381T>C (p.Ala127=) n.575T>C n.600T>C c.483T>C (p.Ala161=) c.420T>C (p.Ala140=) | dbSNP COSMIC COSMIC |
| 6 | g.36684482T>G | CA450129515 | CDKN1A | c.381T>G (p.Ala127=) n.575T>G n.600T>G c.483T>G (p.Ala161=) c.420T>G (p.Ala140=) | |
| 6 | g.36684482T= | CA1621457056 | CDKN1A | c.381T= (p.Ala127=) n.575T= n.600T= c.483T= (p.Ala161=) c.420T= (p.Ala140=) | |
| 6 | g.36684483G>A | CA363834585 | CDKN1A | c.382G>A (p.Glu128Lys) n.576G>A n.601G>A c.484G>A (p.Glu162Lys) c.421G>A (p.Glu141Lys) | dbSNP gnomAD v4 |
| 6 | g.36684483G>C | CA363834586 | CDKN1A | c.382G>C (p.Glu128Gln) n.576G>C n.601G>C c.484G>C (p.Glu162Gln) c.421G>C (p.Glu141Gln) | |
| 6 | g.36684483G>T | CA363834587 | CDKN1A | c.382G>T (p.Glu128Ter) n.576G>T n.601G>T c.484G>T (p.Glu162Ter) c.421G>T (p.Glu141Ter) | |
| 6 | g.36684484A>C | CA363834588 | CDKN1A | c.383A>C (p.Glu128Ala) n.577A>C n.602A>C c.485A>C (p.Glu162Ala) c.422A>C (p.Glu141Ala) | |
| 6 | g.36684484A>G | CA363834589 | CDKN1A | c.383A>G (p.Glu128Gly) n.577A>G n.602A>G c.485A>G (p.Glu162Gly) c.422A>G (p.Glu141Gly) | |
| 6 | g.36684484A>T | CA363834590 | CDKN1A | c.383A>T (p.Glu128Val) n.577A>T n.602A>T c.485A>T (p.Glu162Val) c.422A>T (p.Glu141Val) | |
| 6 | g.36684485A>C | CA363834591 | CDKN1A | c.384A>C (p.Glu128Asp) n.578A>C n.603A>C c.486A>C (p.Glu162Asp) c.423A>C (p.Glu141Asp) | |
| 6 | g.36684485A>G | CA450129518 | CDKN1A | c.384A>G (p.Glu128=) n.578A>G n.603A>G c.486A>G (p.Glu162=) c.423A>G (p.Glu141=) | |
| 6 | g.36684485A>T | CA363834592 | CDKN1A | c.384A>T (p.Glu128Asp) n.578A>T n.603A>T c.486A>T (p.Glu162Asp) c.423A>T (p.Glu141Asp) | |
| 6 | g.36684486G>A | CA363834596 | CDKN1A | c.385G>A (p.Gly129Arg) n.579G>A n.604G>A c.487G>A (p.Gly163Arg) c.424G>A (p.Gly142Arg) | |
| 6 | g.36684486G>C | CA363834595 | CDKN1A | c.385G>C (p.Gly129Arg) n.579G>C n.604G>C c.487G>C (p.Gly163Arg) c.424G>C (p.Gly142Arg) | |
| 6 | g.36684486G>T | CA363834593 | CDKN1A | c.385G>T (p.Gly129Trp) n.579G>T n.604G>T c.487G>T (p.Gly163Trp) c.424G>T (p.Gly142Trp) | |
| 6 | g.36684487G>A | CA363834599 | CDKN1A | c.386G>A (p.Gly129Glu) n.580G>A n.605G>A c.488G>A (p.Gly163Glu) c.425G>A (p.Gly142Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36684487G>C | CA363834597 | CDKN1A | c.386G>C (p.Gly129Ala) n.580G>C n.605G>C c.488G>C (p.Gly163Ala) c.425G>C (p.Gly142Ala) | |
| 6 | g.36684487G= | CA1621457057 | CDKN1A | c.386G= (p.Gly129=) n.580G= n.605G= c.488G= (p.Gly163=) c.425G= (p.Gly142=) | |
| 6 | g.36684487G>T | CA363834598 | CDKN1A | c.386G>T (p.Gly129Val) n.580G>T n.605G>T c.488G>T (p.Gly163Val) c.425G>T (p.Gly142Val) | |
| 6 | g.36684488G>A | CA450129519 | CDKN1A | c.387G>A (p.Gly129=) n.581G>A n.606G>A c.489G>A (p.Gly163=) c.426G>A (p.Gly142=) | dbSNP gnomAD v4 |
| 6 | g.36684488G>C | CA450129520 | CDKN1A | c.387G>C (p.Gly129=) n.581G>C n.606G>C c.489G>C (p.Gly163=) c.426G>C (p.Gly142=) |