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.40807297A= | CA2086592343 | SLC25A15,TPTE2P5 | c.456A= (p.Thr152=) c.318A= (p.Thr106=) c.*139A= (n.*139A=) n.943A= n.623-6573T= n.452-6573T= | |
| 13 | g.40807297A>C | CA483460726 | SLC25A15,TPTE2P5 | c.456A>C (p.Thr152=) c.318A>C (p.Thr106=) c.*139A>C (n.*139A>C) n.943A>C n.623-6573T>G n.452-6573T>G | |
| 13 | g.40807297A>G | CA248380287 | SLC25A15,TPTE2P5 | c.456A>G (p.Thr152=) c.318A>G (p.Thr106=) c.*139A>G (n.*139A>G) n.943A>G n.623-6573T>C n.452-6573T>C | dbSNP gnomAD v4 |
| 13 | g.40807297A>T | CA483460728 | SLC25A15,TPTE2P5 | c.456A>T (p.Thr152=) c.318A>T (p.Thr106=) c.*139A>T (n.*139A>T) n.943A>T n.623-6573T>A n.452-6573T>A | |
| 13 | g.40807298G>A | CA387918019 | SLC25A15,TPTE2P5 | c.457G>A (p.Val153Met) c.319G>A (p.Val107Met) c.*140G>A (n.*140G>A) n.944G>A n.623-6574C>T n.452-6574C>T | |
| 13 | g.40807298G>C | CA387918020 | SLC25A15,TPTE2P5 | c.457G>C (p.Val153Leu) c.319G>C (p.Val107Leu) c.*140G>C (n.*140G>C) n.944G>C n.623-6574C>G n.452-6574C>G | |
| 13 | g.40807298G>T | CA387918022 | SLC25A15,TPTE2P5 | c.457G>T (p.Val153Leu) c.319G>T (p.Val107Leu) c.*140G>T (n.*140G>T) n.944G>T n.623-6574C>A n.452-6574C>A | |
| 13 | g.40807299T>A | CA387918024 | SLC25A15,TPTE2P5 | c.458T>A (p.Val153Glu) c.320T>A (p.Val107Glu) c.*141T>A (n.*141T>A) n.945T>A n.623-6575A>T n.452-6575A>T | |
| 13 | g.40807299T>C | CA248380291 | SLC25A15,TPTE2P5 | c.458T>C (p.Val153Ala) c.320T>C (p.Val107Ala) c.*141T>C (n.*141T>C) n.945T>C n.623-6575A>G n.452-6575A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.40807299T>G | CA387918026 | SLC25A15,TPTE2P5 | c.458T>G (p.Val153Gly) c.320T>G (p.Val107Gly) c.*141T>G (n.*141T>G) n.945T>G n.623-6575A>C n.452-6575A>C | |
| 13 | g.40807299T= | CA2086592344 | SLC25A15,TPTE2P5 | c.458T= (p.Val153=) c.320T= (p.Val107=) c.*141T= (n.*141T=) n.945T= n.623-6575A= n.452-6575A= | |
| 13 | g.40807300G>A | CA483460739 | SLC25A15,TPTE2P5 | c.459G>A (p.Val153=) c.321G>A (p.Val107=) c.*142G>A (n.*142G>A) n.946G>A n.623-6576C>T n.452-6576C>T | |
| 13 | g.40807300G>C | CA483460747 | SLC25A15,TPTE2P5 | c.459G>C (p.Val153=) c.321G>C (p.Val107=) c.*142G>C (n.*142G>C) n.946G>C n.623-6576C>G n.452-6576C>G | |
| 13 | g.40807300G>T | CA483460749 | SLC25A15,TPTE2P5 | c.459G>T (p.Val153=) c.321G>T (p.Val107=) c.*142G>T (n.*142G>T) n.946G>T n.623-6576C>A n.452-6576C>A | |
| 13 | g.40807301T>A | CA387918028 | SLC25A15,TPTE2P5 | c.460T>A (p.Trp154Arg) c.322T>A (p.Trp108Arg) c.*143T>A (n.*143T>A) n.947T>A n.623-6577A>T n.452-6577A>T | |
| 13 | g.40807301T>C | CA387918031 | SLC25A15,TPTE2P5 | c.460T>C (p.Trp154Arg) c.322T>C (p.Trp108Arg) c.*143T>C (n.*143T>C) n.947T>C n.623-6577A>G n.452-6577A>G | |
| 13 | g.40807301T>G | CA387918030 | SLC25A15,TPTE2P5 | c.460T>G (p.Trp154Gly) c.322T>G (p.Trp108Gly) c.*143T>G (n.*143T>G) n.947T>G n.623-6577A>C n.452-6577A>C | |
| 13 | g.40807302G>A | CA387918032 | SLC25A15,TPTE2P5 | c.461G>A (p.Trp154Ter) c.323G>A (p.Trp108Ter) c.*144G>A (n.*144G>A) n.948G>A n.623-6578C>T n.452-6578C>T | |
| 13 | g.40807302G>C | CA387918035 | SLC25A15,TPTE2P5 | c.461G>C (p.Trp154Ser) c.323G>C (p.Trp108Ser) c.*144G>C (n.*144G>C) n.948G>C n.623-6578C>G n.452-6578C>G | gnomAD v4 |
| 13 | g.40807302G>T | CA387918033 | SLC25A15,TPTE2P5 | c.461G>T (p.Trp154Leu) c.323G>T (p.Trp108Leu) c.*144G>T (n.*144G>T) n.948G>T n.623-6578C>A n.452-6578C>A | |
| 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 |