WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.40807303G>A | CA387918037 | SLC25A15,TPTE2P5 | c.462G>A (p.Trp154Ter) c.324G>A (p.Trp108Ter) c.*145G>A (n.*145G>A) n.949G>A n.623-6579C>T n.452-6579C>T | |
| 13 | g.40807303G>C | CA387918039 | SLC25A15,TPTE2P5 | c.462G>C (p.Trp154Cys) c.324G>C (p.Trp108Cys) c.*145G>C (n.*145G>C) n.949G>C n.623-6579C>G n.452-6579C>G | |
| 13 | g.40807303G= | CA2086592345 | SLC25A15,TPTE2P5 | c.462G= (p.Trp154=) c.324G= (p.Trp108=) c.*145G= (n.*145G=) n.949G= n.623-6579C= n.452-6579C= | |
| 13 | g.40807303G>T | CA248380298 | SLC25A15,TPTE2P5 | c.462G>T (p.Trp154Cys) c.324G>T (p.Trp108Cys) c.*145G>T (n.*145G>T) n.949G>T n.623-6579C>A n.452-6579C>A | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.40807304T>A | CA387918040 | SLC25A15,TPTE2P5 | c.463T>A (p.Ser155Thr) c.325T>A (p.Ser109Thr) c.*146T>A (n.*146T>A) n.950T>A n.623-6580A>T n.452-6580A>T | |
| 13 | g.40807304T>C | CA387918043 | SLC25A15,TPTE2P5 | c.463T>C (p.Ser155Pro) c.325T>C (p.Ser109Pro) c.*146T>C (n.*146T>C) n.950T>C n.623-6580A>G n.452-6580A>G | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.40807304T>G | CA387918042 | SLC25A15,TPTE2P5 | c.463T>G (p.Ser155Ala) c.325T>G (p.Ser109Ala) c.*146T>G (n.*146T>G) n.950T>G n.623-6580A>C n.452-6580A>C | |
| 13 | g.40807304T= | CA2086592346 | SLC25A15,TPTE2P5 | c.463T= (p.Ser155=) c.325T= (p.Ser109=) c.*146T= (n.*146T=) n.950T= n.623-6580A= n.452-6580A= | |
| 13 | g.40807305C>A | CA387918044 | SLC25A15,TPTE2P5 | c.464C>A (p.Ser155Tyr) c.326C>A (p.Ser109Tyr) c.*147C>A (n.*147C>A) n.951C>A n.623-6581G>T n.452-6581G>T | |
| 13 | g.40807305C>G | CA387918048 | SLC25A15,TPTE2P5 | c.464C>G (p.Ser155Cys) c.326C>G (p.Ser109Cys) c.*147C>G (n.*147C>G) n.951C>G n.623-6581G>C n.452-6581G>C | |
| 13 | g.40807305C>T | CA387918046 | SLC25A15,TPTE2P5 | c.464C>T (p.Ser155Phe) c.326C>T (p.Ser109Phe) c.*147C>T (n.*147C>T) n.951C>T n.623-6581G>A n.452-6581G>A | COSMIC |
| 13 | g.40807306T>A | CA483460775 | SLC25A15,TPTE2P5 | c.465T>A (p.Ser155=) c.327T>A (p.Ser109=) c.*148T>A (n.*148T>A) n.952T>A n.623-6582A>T n.452-6582A>T | |
| 13 | g.40807306T>C | CA483460776 | SLC25A15,TPTE2P5 | c.465T>C (p.Ser155=) c.327T>C (p.Ser109=) c.*148T>C (n.*148T>C) n.952T>C n.623-6582A>G n.452-6582A>G | |
| 13 | g.40807306T>G | CA483460778 | SLC25A15,TPTE2P5 | c.465T>G (p.Ser155=) c.327T>G (p.Ser109=) c.*148T>G (n.*148T>G) n.952T>G n.623-6582A>C n.452-6582A>C | |
| 13 | g.40807307G>A | CA6959746 | SLC25A15,TPTE2P5 | c.466G>A (p.Val156Ile) c.328G>A (p.Val110Ile) c.*149G>A (n.*149G>A) n.953G>A n.623-6583C>T n.452-6583C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.40807307G>C | CA387918050 | SLC25A15,TPTE2P5 | c.466G>C (p.Val156Leu) c.328G>C (p.Val110Leu) c.*149G>C (n.*149G>C) n.953G>C n.623-6583C>G n.452-6583C>G | |
| 13 | g.40807307G= | CA2086592347 | SLC25A15,TPTE2P5 | c.466G= (p.Val156=) c.328G= (p.Val110=) c.*149G= (n.*149G=) n.953G= n.623-6583C= n.452-6583C= | |
| 13 | g.40807307G>T | CA387918052 | SLC25A15,TPTE2P5 | c.466G>T (p.Val156Phe) c.328G>T (p.Val110Phe) c.*149G>T (n.*149G>T) n.953G>T n.623-6583C>A n.452-6583C>A | |
| 13 | g.40807308T>A | CA387918054 | SLC25A15,TPTE2P5 | c.467T>A (p.Val156Asp) c.329T>A (p.Val110Asp) c.*150T>A (n.*150T>A) n.954T>A n.623-6584A>T n.452-6584A>T | |
| 13 | g.40807308T>C | CA387918055 | SLC25A15,TPTE2P5 | c.467T>C (p.Val156Ala) c.329T>C (p.Val110Ala) c.*150T>C (n.*150T>C) n.954T>C n.623-6584A>G n.452-6584A>G | |
| 13 | g.40807308T>G | CA387918056 | SLC25A15,TPTE2P5 | c.467T>G (p.Val156Gly) c.329T>G (p.Val110Gly) c.*150T>G (n.*150T>G) n.954T>G n.623-6584A>C n.452-6584A>C | |
| 13 | g.40807309C>A | CA483460782 | SLC25A15,TPTE2P5 | c.468C>A (p.Val156=) c.330C>A (p.Val110=) c.*151C>A (n.*151C>A) n.955C>A n.623-6585G>T n.452-6585G>T | |
| 13 | g.40807309C>G | CA483460785 | SLC25A15,TPTE2P5 | c.468C>G (p.Val156=) c.330C>G (p.Val110=) c.*151C>G (n.*151C>G) n.955C>G n.623-6585G>C n.452-6585G>C | gnomAD v4 |
| 13 | g.40807309C>T | CA483460783 | SLC25A15,TPTE2P5 | c.468C>T (p.Val156=) c.330C>T (p.Val110=) c.*151C>T (n.*151C>T) n.955C>T n.623-6585G>A n.452-6585G>A | |
| 13 | g.40807310A>C | CA387918058 | SLC25A15,TPTE2P5 | c.469A>C (p.Ile157Leu) c.331A>C (p.Ile111Leu) c.*152A>C (n.*152A>C) n.956A>C n.623-6586T>G n.452-6586T>G | |
| 13 | g.40807310A>G | CA387918059 | SLC25A15,TPTE2P5 | c.469A>G (p.Ile157Val) c.331A>G (p.Ile111Val) c.*152A>G (n.*152A>G) n.956A>G n.623-6586T>C n.452-6586T>C | |
| 13 | g.40807310A>T | CA387918061 | SLC25A15,TPTE2P5 | c.469A>T (p.Ile157Phe) c.331A>T (p.Ile111Phe) c.*152A>T (n.*152A>T) n.956A>T n.623-6586T>A n.452-6586T>A | |
| 13 | g.40807311T>A | CA387918062 | SLC25A15,TPTE2P5 | c.470T>A (p.Ile157Asn) c.332T>A (p.Ile111Asn) c.*153T>A (n.*153T>A) n.957T>A n.623-6587A>T n.452-6587A>T | |
| 13 | g.40807311T>C | CA387918064 | SLC25A15,TPTE2P5 | c.470T>C (p.Ile157Thr) c.332T>C (p.Ile111Thr) c.*153T>C (n.*153T>C) n.957T>C n.623-6587A>G n.452-6587A>G | gnomAD v4 |
| 13 | g.40807311T>G | CA387918065 | SLC25A15,TPTE2P5 | c.470T>G (p.Ile157Ser) c.332T>G (p.Ile111Ser) c.*153T>G (n.*153T>G) n.957T>G n.623-6587A>C n.452-6587A>C | |
| 13 | g.40807312C>A | CA483460787 | SLC25A15,TPTE2P5 | c.471C>A (p.Ile157=) c.333C>A (p.Ile111=) c.*154C>A (n.*154C>A) n.958C>A n.623-6588G>T n.452-6588G>T | gnomAD v4 |
| 13 | g.40807312C= | CA2086592348 | SLC25A15,TPTE2P5 | c.471C= (p.Ile157=) c.333C= (p.Ile111=) c.*154C= (n.*154C=) n.958C= n.623-6588G= n.452-6588G= | |
| 13 | g.40807312C>G | CA387918067 | SLC25A15,TPTE2P5 | c.471C>G (p.Ile157Met) c.333C>G (p.Ile111Met) c.*154C>G (n.*154C>G) n.958C>G n.623-6588G>C n.452-6588G>C | |
| 13 | g.40807312C>T | CA483460788 | SLC25A15,TPTE2P5 | c.471C>T (p.Ile157=) c.333C>T (p.Ile111=) c.*154C>T (n.*154C>T) n.958C>T n.623-6588G>A n.452-6588G>A | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.40807313A>C | CA387918068 | SLC25A15,TPTE2P5 | c.472A>C (p.Lys158Gln) c.334A>C (p.Lys112Gln) c.*155A>C (n.*155A>C) n.959A>C n.623-6589T>G n.452-6589T>G | |
| 13 | g.40807313A>G | CA387918072 | SLC25A15,TPTE2P5 | c.472A>G (p.Lys158Glu) c.334A>G (p.Lys112Glu) c.*155A>G (n.*155A>G) n.959A>G n.623-6589T>C n.452-6589T>C | gnomAD v4 |
| 13 | g.40807313A>T | CA387918070 | SLC25A15,TPTE2P5 | c.472A>T (p.Lys158Ter) c.334A>T (p.Lys112Ter) c.*155A>T (n.*155A>T) n.959A>T n.623-6589T>A n.452-6589T>A | |
| 13 | g.40807314A>C | CA387918074 | SLC25A15,TPTE2P5 | c.473A>C (p.Lys158Thr) c.335A>C (p.Lys112Thr) c.*156A>C (n.*156A>C) n.960A>C n.623-6590T>G n.452-6590T>G | |
| 13 | g.40807314A>G | CA387918075 | SLC25A15,TPTE2P5 | c.473A>G (p.Lys158Arg) c.335A>G (p.Lys112Arg) c.*156A>G (n.*156A>G) n.960A>G n.623-6590T>C n.452-6590T>C | |
| 13 | g.40807314A>T | CA387918076 | SLC25A15,TPTE2P5 | c.473A>T (p.Lys158Ile) c.335A>T (p.Lys112Ile) c.*156A>T (n.*156A>T) n.960A>T n.623-6590T>A n.452-6590T>A | |
| 13 | g.40807315A>C | CA387918078 | SLC25A15,TPTE2P5 | c.474A>C (p.Lys158Asn) c.336A>C (p.Lys112Asn) c.*157A>C (n.*157A>C) n.961A>C n.623-6591T>G n.452-6591T>G | |
| 13 | g.40807315A>G | CA483460795 | SLC25A15,TPTE2P5 | c.474A>G (p.Lys158=) c.336A>G (p.Lys112=) c.*157A>G (n.*157A>G) n.961A>G n.623-6591T>C n.452-6591T>C | |
| 13 | g.40807315A>T | CA387918080 | SLC25A15,TPTE2P5 | c.474A>T (p.Lys158Asn) c.336A>T (p.Lys112Asn) c.*157A>T (n.*157A>T) n.961A>T n.623-6591T>A n.452-6591T>A | |
| 13 | g.40807316A= | CA2086592349 | SLC25A15,TPTE2P5 | c.475A= (p.Ser159=) c.337A= (p.Ser113=) c.*158A= (n.*158A=) n.962A= n.623-6592T= n.452-6592T= | |
| 13 | g.40807316A>C | CA387918082 | SLC25A15,TPTE2P5 | c.475A>C (p.Ser159Arg) c.337A>C (p.Ser113Arg) c.*158A>C (n.*158A>C) n.962A>C n.623-6592T>G n.452-6592T>G | |
| 13 | g.40807316A>G | CA387918083 | SLC25A15,TPTE2P5 | c.475A>G (p.Ser159Gly) c.337A>G (p.Ser113Gly) c.*158A>G (n.*158A>G) n.962A>G n.623-6592T>C n.452-6592T>C | dbSNP |
| 13 | g.40807316A>T | CA387918086 | SLC25A15,TPTE2P5 | c.475A>T (p.Ser159Cys) c.337A>T (p.Ser113Cys) c.*158A>T (n.*158A>T) n.962A>T n.623-6592T>A n.452-6592T>A | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.40807317G>A | CA387918088 | SLC25A15,TPTE2P5 | c.476G>A (p.Ser159Asn) c.338G>A (p.Ser113Asn) c.*159G>A (n.*159G>A) n.963G>A n.623-6593C>T n.452-6593C>T | dbSNP |
| 13 | g.40807317G>C | CA387918090 | SLC25A15,TPTE2P5 | c.476G>C (p.Ser159Thr) c.338G>C (p.Ser113Thr) c.*159G>C (n.*159G>C) n.963G>C n.623-6593C>G n.452-6593C>G | gnomAD v4 |
| 13 | g.40807317G= | CA2086592350 | SLC25A15,TPTE2P5 | c.476G= (p.Ser159=) c.338G= (p.Ser113=) c.*159G= (n.*159G=) n.963G= n.623-6593C= n.452-6593C= |