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 |
|---|---|---|---|---|---|
| 12 | g.71994498A>C | CA385781971 | TPH2 | c.1001A>C (p.Gln334Pro) c.407A>C (p.Gln136Pro) | |
| 12 | g.71994498A>G | CA385781973 | TPH2 | c.1001A>G (p.Gln334Arg) c.407A>G (p.Gln136Arg) | |
| 12 | g.71994498A>T | CA385781975 | TPH2 | c.1001A>T (p.Gln334Leu) c.407A>T (p.Gln136Leu) | |
| 12 | g.71994499G>A | CA480765002 | TPH2 | c.1002G>A (p.Gln334=) c.408G>A (p.Gln136=) | dbSNP |
| 12 | g.71994499G>C | CA385781977 | TPH2 | c.1002G>C (p.Gln334His) c.408G>C (p.Gln136His) | |
| 12 | g.71994499G= | CA2045533083 | TPH2 | c.1002G= (p.Gln334=) c.408G= (p.Gln136=) | |
| 12 | g.71994499G>T | CA385781978 | TPH2 | c.1002G>T (p.Gln334His) c.408G>T (p.Gln136His) | |
| 12 | g.71994500T>A | CA385781980 | TPH2 | c.1003T>A (p.Phe335Ile) c.409T>A (p.Phe137Ile) | |
| 12 | g.71994500T>C | CA385781984 | TPH2 | c.1003T>C (p.Phe335Leu) c.409T>C (p.Phe137Leu) | |
| 12 | g.71994500T>G | CA385781983 | TPH2 | c.1003T>G (p.Phe335Val) c.409T>G (p.Phe137Val) | |
| 12 | g.71994501T>A | CA385781987 | TPH2 | c.1004T>A (p.Phe335Tyr) c.410T>A (p.Phe137Tyr) | |
| 12 | g.71994501T>C | CA385781988 | TPH2 | c.1004T>C (p.Phe335Ser) c.410T>C (p.Phe137Ser) | |
| 12 | g.71994501T>G | CA385781989 | TPH2 | c.1004T>G (p.Phe335Cys) c.410T>G (p.Phe137Cys) | |
| 12 | g.71994502T>A | CA385781990 | TPH2 | c.1005T>A (p.Phe335Leu) c.411T>A (p.Phe137Leu) | |
| 12 | g.71994502T>C | CA480765003 | TPH2 | c.1005T>C (p.Phe335=) c.411T>C (p.Phe137=) | |
| 12 | g.71994502T>G | CA385781991 | TPH2 | c.1005T>G (p.Phe335Leu) c.411T>G (p.Phe137Leu) | |
| 12 | g.71994503T>A | CA385781992 | TPH2 | c.1006T>A (p.Ser336Thr) c.412T>A (p.Ser138Thr) | |
| 12 | g.71994503T>C | CA385781993 | TPH2 | c.1006T>C (p.Ser336Pro) c.412T>C (p.Ser138Pro) | |
| 12 | g.71994503T>G | CA385781994 | TPH2 | c.1006T>G (p.Ser336Ala) c.412T>G (p.Ser138Ala) | |
| 12 | g.71994504C>A | CA385781996 | TPH2 | c.1007C>A (p.Ser336Ter) c.413C>A (p.Ser138Ter) | |
| 12 | g.71994504C>G | CA385781998 | TPH2 | c.1007C>G (p.Ser336Ter) c.413C>G (p.Ser138Ter) | dbSNP |
| 12 | g.71994504C>T | CA385782000 | TPH2 | c.1007C>T (p.Ser336Leu) c.413C>T (p.Ser138Leu) | COSMIC |
| 12 | g.71994505A>C | CA480765004 | TPH2 | c.1008A>C (p.Ser336=) c.414A>C (p.Ser138=) | |
| 12 | g.71994505A>G | CA480765005 | TPH2 | c.1008A>G (p.Ser336=) c.414A>G (p.Ser138=) | |
| 12 | g.71994505A>T | CA480765006 | TPH2 | c.1008A>T (p.Ser336=) c.414A>T (p.Ser138=) | |
| 12 | g.71994506C>A | CA385782003 | TPH2 | c.1009C>A (p.Gln337Lys) c.415C>A (p.Gln139Lys) | |
| 12 | g.71994506C>G | CA385782007 | TPH2 | c.1009C>G (p.Gln337Glu) c.415C>G (p.Gln139Glu) | |
| 12 | g.71994506C>T | CA385782006 | TPH2 | c.1009C>T (p.Gln337Ter) c.415C>T (p.Gln139Ter) | |
| 12 | g.71994506_71994510delinsCAAGA | CA2045533084 | TPH2 | c.1009_1013delinsCAAGA (p.Gln337=) c.415_419delinsCAAGA (p.Gln139=) | |
| 12 | g.71994507A= | CA2045533085 | TPH2 | c.1010A= (p.Gln337=) c.416A= (p.Gln139=) | |
| 12 | g.71994507A>C | CA385782011 | TPH2 | c.1010A>C (p.Gln337Pro) c.416A>C (p.Gln139Pro) | dbSNP |
| 12 | g.71994507A>G | CA385782014 | TPH2 | c.1010A>G (p.Gln337Arg) c.416A>G (p.Gln139Arg) | |
| 12 | g.71994507A>T | CA385782013 | TPH2 | c.1010A>T (p.Gln337Leu) c.416A>T (p.Gln139Leu) | |
| 12 | g.71994509_71994512del | CA949088501 | TPH2 | c.1012_1015del (p.Glu338Ter) c.418_421del (p.Glu140Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.71994508A>C | CA385782015 | TPH2 | c.1011A>C (p.Gln337His) c.417A>C (p.Gln139His) | |
| 12 | g.71994508A>G | CA480765007 | TPH2 | c.1011A>G (p.Gln337=) c.417A>G (p.Gln139=) | |
| 12 | g.71994508A>T | CA385782016 | TPH2 | c.1011A>T (p.Gln337His) c.417A>T (p.Gln139His) | |
| 12 | g.71994509G>A | CA385782018 | TPH2 | c.1012G>A (p.Glu338Lys) c.418G>A (p.Glu140Lys) | |
| 12 | g.71994509G>C | CA385782024 | TPH2 | c.1012G>C (p.Glu338Gln) c.418G>C (p.Glu140Gln) | |
| 12 | g.71994509G>T | CA385782019 | TPH2 | c.1012G>T (p.Glu338Ter) c.418G>T (p.Glu140Ter) | COSMIC |
| 12 | g.71994510A>C | CA385782027 | TPH2 | c.1013A>C (p.Glu338Ala) c.419A>C (p.Glu140Ala) | |
| 12 | g.71994510A>G | CA385782032 | TPH2 | c.1013A>G (p.Glu338Gly) c.419A>G (p.Glu140Gly) | |
| 12 | g.71994510A>T | CA385782029 | TPH2 | c.1013A>T (p.Glu338Val) c.419A>T (p.Glu140Val) | |
| 12 | g.71994511A= | CA2045533086 | TPH2 | c.1014A= (p.Glu338=) c.420A= (p.Glu140=) | |
| 12 | g.71994511A>C | CA385782035 | TPH2 | c.1014A>C (p.Glu338Asp) c.420A>C (p.Glu140Asp) | dbSNP |
| 12 | g.71994511A>G | CA480765008 | TPH2 | c.1014A>G (p.Glu338=) c.420A>G (p.Glu140=) | |
| 12 | g.71994511A>T | CA385782037 | TPH2 | c.1014A>T (p.Glu338Asp) c.420A>T (p.Glu140Asp) | |
| 12 | g.71994512A>C | CA385782040 | TPH2 | c.1015A>C (p.Ile339Leu) c.421A>C (p.Ile141Leu) | |
| 12 | g.71994512A>G | CA385782044 | TPH2 | c.1015A>G (p.Ile339Val) c.421A>G (p.Ile141Val) | gnomAD v4 |
| 12 | g.71994512A>T | CA385782046 | TPH2 | c.1015A>T (p.Ile339Leu) c.421A>T (p.Ile141Leu) |