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 |
|---|---|---|---|---|---|
| 8 | g.127738393C>A | CA372279518 | MYC | c.131C>A (p.Ala44Glu) c.173C>A (p.Ala58Glu) c.176C>A (p.Ala59Glu) c.-170C>A (n.-170C>A) c.97C>A (p.Arg33Ser) | dbSNP gnomAD v4 |
| 8 | g.127738393C= | CA1818466383 | MYC | c.131C= (p.Ala44=) c.173C= (p.Ala58=) c.176C= (p.Ala59=) c.-170C= (n.-170C=) c.97C= (p.Arg33=) | |
| 8 | g.127738393C>G | CA372279519 | MYC | c.131C>G (p.Ala44Gly) c.173C>G (p.Ala58Gly) c.176C>G (p.Ala59Gly) c.-170C>G (n.-170C>G) c.97C>G (p.Arg33Gly) | dbSNP |
| 8 | g.127738393C>T | CA4875243 | MYC | c.131C>T (p.Ala44Val) c.173C>T (p.Ala58Val) c.176C>T (p.Ala59Val) c.-170C>T (n.-170C>T) c.97C>T (p.Arg33Cys) | ClinVar dbSNP ExAC gnomAD v2 COSMIC COSMIC |
| 8 | g.127738394G>A | CA372279520 | MYC | c.132G>A (p.Ala44=) c.174G>A (p.Ala58=) c.177G>A (p.Ala59=) c.-169G>A (n.-169G>A) c.98G>A (p.Arg33His) | dbSNP gnomAD v2 |
| 8 | g.127738394G>C | CA372279521 | MYC | c.132G>C (p.Ala44=) c.174G>C (p.Ala58=) c.177G>C (p.Ala59=) c.-169G>C (n.-169G>C) c.98G>C (p.Arg33Pro) | |
| 8 | g.127738394G= | CA1818466388 | MYC | c.132G= (p.Ala44=) c.174G= (p.Ala58=) c.177G= (p.Ala59=) c.-169G= (n.-169G=) c.98G= (p.Arg33=) | |
| 8 | g.127738394G>T | CA4875244 | MYC | c.132G>T (p.Ala44=) c.174G>T (p.Ala58=) c.177G>T (p.Ala59=) c.-169G>T (n.-169G>T) c.98G>T (p.Arg33Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.127738395C>A | CA372279524 | MYC | c.133C>A (p.Pro45Thr) c.175C>A (p.Pro59Thr) c.178C>A (p.Pro60Thr) c.-168C>A (n.-168C>A) c.99C>A (p.Arg33=) | dbSNP |
| 8 | g.127738395C>G | CA372279522 | MYC | c.133C>G (p.Pro45Ala) c.175C>G (p.Pro59Ala) c.178C>G (p.Pro60Ala) c.-168C>G (n.-168C>G) c.99C>G (p.Arg33=) | |
| 8 | g.127738395C>T | CA372279523 | MYC | c.133C>T (p.Pro45Ser) c.175C>T (p.Pro59Ser) c.178C>T (p.Pro60Ser) c.-168C>T (n.-168C>T) c.99C>T (p.Arg33=) | dbSNP |
| 8 | g.127738396C>A | CA372279525 | MYC | c.134C>A (p.Pro45His) c.176C>A (p.Pro59His) c.179C>A (p.Pro60His) c.-167C>A (n.-167C>A) c.100C>A (p.Pro34Thr) | dbSNP |
| 8 | g.127738396C>G | CA372279526 | MYC | c.134C>G (p.Pro45Arg) c.176C>G (p.Pro59Arg) c.179C>G (p.Pro60Arg) c.-167C>G (n.-167C>G) c.100C>G (p.Pro34Ala) | dbSNP |
| 8 | g.127738396C>T | CA372279527 | MYC | c.134C>T (p.Pro45Leu) c.176C>T (p.Pro59Leu) c.179C>T (p.Pro60Leu) c.-167C>T (n.-167C>T) c.100C>T (p.Pro34Ser) | dbSNP |
| 8 | g.127738397C>A | CA372279528 | MYC | c.135C>A (p.Pro45=) c.177C>A (p.Pro59=) c.180C>A (p.Pro60=) c.-166C>A (n.-166C>A) c.101C>A (p.Pro34Gln) | |
| 8 | g.127738397C>G | CA372279529 | MYC | c.135C>G (p.Pro45=) c.177C>G (p.Pro59=) c.180C>G (p.Pro60=) c.-166C>G (n.-166C>G) c.101C>G (p.Pro34Arg) | dbSNP |
| 8 | g.127738397C>T | CA372279530 | MYC | c.135C>T (p.Pro45=) c.177C>T (p.Pro59=) c.180C>T (p.Pro60=) c.-166C>T (n.-166C>T) c.101C>T (p.Pro34Leu) | dbSNP gnomAD v4 |
| 8 | g.127738398A>C | CA372279531 | MYC | c.136A>C (p.Ser46Arg) c.178A>C (p.Ser60Arg) c.181A>C (p.Ser61Arg) c.-165A>C (n.-165A>C) c.102A>C (p.Pro34=) | |
| 8 | g.127738398A>G | CA372279532 | MYC | c.136A>G (p.Ser46Gly) c.178A>G (p.Ser60Gly) c.181A>G (p.Ser61Gly) c.-165A>G (n.-165A>G) c.102A>G (p.Pro34=) | dbSNP |
| 8 | g.127738398A>T | CA372279533 | MYC | c.136A>T (p.Ser46Cys) c.178A>T (p.Ser60Cys) c.181A>T (p.Ser61Cys) c.-165A>T (n.-165A>T) c.102A>T (p.Pro34=) | dbSNP |
| 8 | g.127738399G>A | CA372279534 | MYC | c.137G>A (p.Ser46Asn) c.179G>A (p.Ser60Asn) c.182G>A (p.Ser61Asn) c.-164G>A (n.-164G>A) c.103G>A (p.Ala35Thr) | gnomAD v4 |
| 8 | g.127738399G>C | CA372279535 | MYC | c.137G>C (p.Ser46Thr) c.179G>C (p.Ser60Thr) c.182G>C (p.Ser61Thr) c.-164G>C (n.-164G>C) c.103G>C (p.Ala35Pro) | dbSNP |
| 8 | g.127738399G>T | CA372279536 | MYC | c.137G>T (p.Ser46Ile) c.179G>T (p.Ser60Ile) c.182G>T (p.Ser61Ile) c.-164G>T (n.-164G>T) c.103G>T (p.Ala35Ser) | |
| 8 | g.127738400C>A | CA372279537 | MYC | c.138C>A (p.Ser46Arg) c.180C>A (p.Ser60Arg) c.183C>A (p.Ser61Arg) c.-163C>A (n.-163C>A) c.104C>A (p.Ala35Glu) | dbSNP |
| 8 | g.127738400C= | CA1818466392 | MYC | c.138C= (p.Ser46=) c.180C= (p.Ser60=) c.183C= (p.Ser61=) c.-163C= (n.-163C=) c.104C= (p.Ala35=) | |
| 8 | g.127738400C>G | CA372279538 | MYC | c.138C>G (p.Ser46Arg) c.180C>G (p.Ser60Arg) c.183C>G (p.Ser61Arg) c.-163C>G (n.-163C>G) c.104C>G (p.Ala35Gly) | dbSNP |
| 8 | g.127738400C>T | CA4875245 | MYC | c.138C>T (p.Ser46=) c.180C>T (p.Ser60=) c.183C>T (p.Ser61=) c.-163C>T (n.-163C>T) c.104C>T (p.Ala35Val) | dbSNP ExAC gnomAD v2 |
| 8 | g.127738401G>A | CA372279540 | MYC | c.139G>A (p.Glu47Lys) c.181G>A (p.Glu61Lys) c.184G>A (p.Glu62Lys) c.-162G>A (n.-162G>A) c.105G>A (p.Ala35=) | dbSNP |
| 8 | g.127738401G>C | CA372279539 | MYC | c.139G>C (p.Glu47Gln) c.181G>C (p.Glu61Gln) c.184G>C (p.Glu62Gln) c.-162G>C (n.-162G>C) c.105G>C (p.Ala35=) | dbSNP |
| 8 | g.127738401G>T | CA372279541 | MYC | c.139G>T (p.Glu47Ter) c.181G>T (p.Glu61Ter) c.184G>T (p.Glu62Ter) c.-162G>T (n.-162G>T) c.105G>T (p.Ala35=) | |
| 8 | g.127738402A>C | CA372279542 | MYC | c.140A>C (p.Glu47Ala) c.182A>C (p.Glu61Ala) c.185A>C (p.Glu62Ala) c.-161A>C (n.-161A>C) c.106A>C (p.Arg36=) | |
| 8 | g.127738402A>G | CA372279543 | MYC | c.140A>G (p.Glu47Gly) c.182A>G (p.Glu61Gly) c.185A>G (p.Glu62Gly) c.-161A>G (n.-161A>G) c.106A>G (p.Arg36Gly) | dbSNP |
| 8 | g.127738402A>T | CA372279544 | MYC | c.140A>T (p.Glu47Val) c.182A>T (p.Glu61Val) c.185A>T (p.Glu62Val) c.-161A>T (n.-161A>T) c.106A>T (p.Arg36Trp) | dbSNP |
| 8 | g.127738403G>A | CA372279545 | MYC | c.141G>A (p.Glu47=) c.183G>A (p.Glu61=) c.186G>A (p.Glu62=) c.-160G>A (n.-160G>A) c.107G>A (p.Arg36Lys) | dbSNP |
| 8 | g.127738403G>C | CA372279546 | MYC | c.141G>C (p.Glu47Asp) c.183G>C (p.Glu61Asp) c.186G>C (p.Glu62Asp) c.-160G>C (n.-160G>C) c.107G>C (p.Arg36Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.127738403G= | CA1818466397 | MYC | c.141G= (p.Glu47=) c.183G= (p.Glu61=) c.186G= (p.Glu62=) c.-160G= (n.-160G=) c.107G= (p.Arg36=) | |
| 8 | g.127738403G>T | CA372279547 | MYC | c.141G>T (p.Glu47Asp) c.183G>T (p.Glu61Asp) c.186G>T (p.Glu62Asp) c.-160G>T (n.-160G>T) c.107G>T (p.Arg36Met) | |
| 8 | g.127738404G>A | CA372279548 | MYC | c.142G>A (p.Asp48Asn) c.184G>A (p.Asp62Asn) c.187G>A (p.Asp63Asn) c.-159G>A (n.-159G>A) c.108G>A (p.Arg36=) | dbSNP gnomAD v4 |
| 8 | g.127738404G>C | CA372279549 | MYC | c.142G>C (p.Asp48His) c.184G>C (p.Asp62His) c.187G>C (p.Asp63His) c.-159G>C (n.-159G>C) c.108G>C (p.Arg36Ser) | dbSNP |
| 8 | g.127738404G>T | CA372279550 | MYC | c.142G>T (p.Asp48Tyr) c.184G>T (p.Asp62Tyr) c.187G>T (p.Asp63Tyr) c.-159G>T (n.-159G>T) c.108G>T (p.Arg36Ser) | dbSNP |
| 8 | g.127738405A= | CA1818466399 | MYC | c.143A= (p.Asp48=) c.185A= (p.Asp62=) c.188A= (p.Asp63=) c.-158A= (n.-158A=) c.109A= (p.Ile37=) | |
| 8 | g.127738405A>C | CA4875246 | MYC | c.143A>C (p.Asp48Ala) c.185A>C (p.Asp62Ala) c.188A>C (p.Asp63Ala) c.-158A>C (n.-158A>C) c.109A>C (p.Ile37Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.127738405A>G | CA372279551 | MYC | c.143A>G (p.Asp48Gly) c.185A>G (p.Asp62Gly) c.188A>G (p.Asp63Gly) c.-158A>G (n.-158A>G) c.109A>G (p.Ile37Val) | dbSNP |
| 8 | g.127738405A>T | CA372279552 | MYC | c.143A>T (p.Asp48Val) c.185A>T (p.Asp62Val) c.188A>T (p.Asp63Val) c.-158A>T (n.-158A>T) c.109A>T (p.Ile37Leu) | |
| 8 | g.127738406T>A | CA372279555 | MYC | c.144T>A (p.Asp48Glu) c.186T>A (p.Asp62Glu) c.189T>A (p.Asp63Glu) c.-157T>A (n.-157T>A) c.110T>A (p.Ile37Lys) | dbSNP |
| 8 | g.127738406T>C | CA372279553 | MYC | c.144T>C (p.Asp48=) c.186T>C (p.Asp62=) c.189T>C (p.Asp63=) c.-157T>C (n.-157T>C) c.110T>C (p.Ile37Thr) | |
| 8 | g.127738406T>G | CA372279554 | MYC | c.144T>G (p.Asp48Glu) c.186T>G (p.Asp62Glu) c.189T>G (p.Asp63Glu) c.-157T>G (n.-157T>G) c.110T>G (p.Ile37Arg) | dbSNP |
| 8 | g.127738407A>C | CA372279556 | MYC | c.145A>C (p.Ile49Leu) c.187A>C (p.Ile63Leu) c.190A>C (p.Ile64Leu) c.-156A>C (n.-156A>C) c.111A>C (p.Ile37=) | |
| 8 | g.127738407A>G | CA372279557 | MYC | c.145A>G (p.Ile49Val) c.187A>G (p.Ile63Val) c.190A>G (p.Ile64Val) c.-156A>G (n.-156A>G) c.111A>G (p.Ile37Met) | COSMIC COSMIC |
| 8 | g.127738407A>T | CA372279558 | MYC | c.145A>T (p.Ile49Phe) c.187A>T (p.Ile63Phe) c.190A>T (p.Ile64Phe) c.-156A>T (n.-156A>T) c.111A>T (p.Ile37=) |