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 |
|---|---|---|---|---|---|
| X | g.78118103_78118105del | CA120827 | PGK1 | c.574_576del (p.Lys192del) c.490_492del (p.Lys164del) n.566_568del | ClinVar dbSNP |
| X | g.78118103A>C | CA413721465 | PGK1 | c.574A>C (p.Lys192Gln) c.490A>C (p.Lys164Gln) n.566A>C | |
| X | g.78118103A>G | CA413721466 | PGK1 | c.574A>G (p.Lys192Glu) c.490A>G (p.Lys164Glu) n.566A>G | |
| X | g.78118103A>T | CA413721464 | PGK1 | c.574A>T (p.Lys192Ter) c.490A>T (p.Lys164Ter) n.566A>T | |
| X | g.78118104A= | CA2439138593 | PGK1 | c.575A= (p.Lys192=) c.491A= (p.Lys164=) n.567A= | |
| X | g.78118104A>C | CA413721467 | PGK1 | c.575A>C (p.Lys192Thr) c.491A>C (p.Lys164Thr) n.567A>C | |
| X | g.78118104A>G | CA413721468 | PGK1 | c.575A>G (p.Lys192Arg) c.491A>G (p.Lys164Arg) n.567A>G | |
| X | g.78118104A>T | CA10459735 | PGK1 | c.575A>T (p.Lys192Met) c.491A>T (p.Lys164Met) n.567A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.78118105G>A | CA517379927 | PGK1 | c.576G>A (p.Lys192=) c.492G>A (p.Lys164=) n.568G>A | |
| X | g.78118105G>C | CA413721469 | PGK1 | c.576G>C (p.Lys192Asn) c.492G>C (p.Lys164Asn) n.568G>C | ClinVar |
| X | g.78118105G>T | CA413721470 | PGK1 | c.576G>T (p.Lys192Asn) c.492G>T (p.Lys164Asn) n.568G>T | |
| X | g.78118106G>A | CA413721471 | PGK1 | c.577G>A (p.Glu193Lys) c.493G>A (p.Glu165Lys) n.569G>A | |
| X | g.78118106G>C | CA413721472 | PGK1 | c.577G>C (p.Glu193Gln) c.493G>C (p.Glu165Gln) n.569G>C | |
| X | g.78118106G>T | CA413721473 | PGK1 | c.577G>T (p.Glu193Ter) c.493G>T (p.Glu165Ter) n.569G>T | |
| X | g.78118107A>C | CA413721474 | PGK1 | c.578A>C (p.Glu193Ala) c.494A>C (p.Glu165Ala) n.570A>C | |
| X | g.78118107A>G | CA413721475 | PGK1 | c.578A>G (p.Glu193Gly) c.494A>G (p.Glu165Gly) n.570A>G | |
| X | g.78118107A>T | CA413721476 | PGK1 | c.578A>T (p.Glu193Val) c.494A>T (p.Glu165Val) n.570A>T | |
| X | g.78118108G>A | CA517379928 | PGK1 | c.579G>A (p.Glu193=) c.495G>A (p.Glu165=) n.571G>A | gnomAD v4 |
| X | g.78118108G>C | CA413721477 | PGK1 | c.579G>C (p.Glu193Asp) c.495G>C (p.Glu165Asp) n.571G>C | |
| X | g.78118108G>T | CA413721478 | PGK1 | c.579G>T (p.Glu193Asp) c.495G>T (p.Glu165Asp) n.571G>T | |
| X | g.78118109C>A | CA413721480 | PGK1 | c.580C>A (p.Leu194Met) c.496C>A (p.Leu166Met) n.572C>A | |
| X | g.78118109C>G | CA413721479 | PGK1 | c.580C>G (p.Leu194Val) c.496C>G (p.Leu166Val) n.572C>G | |
| X | g.78118109C>T | CA517379930 | PGK1 | c.580C>T (p.Leu194=) c.496C>T (p.Leu166=) n.572C>T | |
| X | g.78118110T>A | CA413721481 | PGK1 | c.581T>A (p.Leu194Gln) c.497T>A (p.Leu166Gln) n.573T>A | |
| X | g.78118110T>C | CA413721482 | PGK1 | c.581T>C (p.Leu194Pro) c.497T>C (p.Leu166Pro) n.573T>C | |
| X | g.78118110T>G | CA413721483 | PGK1 | c.581T>G (p.Leu194Arg) c.497T>G (p.Leu166Arg) n.573T>G | |
| X | g.78118111G>A | CA517379931 | PGK1 | c.582G>A (p.Leu194=) c.498G>A (p.Leu166=) n.574G>A | gnomAD v4 |
| X | g.78118111G>C | CA517379932 | PGK1 | c.582G>C (p.Leu194=) c.498G>C (p.Leu166=) n.574G>C | |
| X | g.78118111G>T | CA517379933 | PGK1 | c.582G>T (p.Leu194=) c.498G>T (p.Leu166=) n.574G>T | |
| X | g.78118112A>C | CA413721484 | PGK1 | c.583A>C (p.Asn195His) c.499A>C (p.Asn167His) n.575A>C | |
| X | g.78118112A>G | CA413721485 | PGK1 | c.583A>G (p.Asn195Asp) c.499A>G (p.Asn167Asp) n.575A>G | |
| X | g.78118112A>T | CA413721486 | PGK1 | c.583A>T (p.Asn195Tyr) c.499A>T (p.Asn167Tyr) n.575A>T | |
| X | g.78118113A>C | CA413721489 | PGK1 | c.584A>C (p.Asn195Thr) c.500A>C (p.Asn167Thr) n.576A>C | |
| X | g.78118113A>G | CA413721487 | PGK1 | c.584A>G (p.Asn195Ser) c.500A>G (p.Asn167Ser) n.576A>G | COSMIC |
| X | g.78118113A>T | CA413721488 | PGK1 | c.584A>T (p.Asn195Ile) c.500A>T (p.Asn167Ile) n.576A>T | |
| X | g.78118114C>A | CA413721490 | PGK1 | c.585C>A (p.Asn195Lys) c.501C>A (p.Asn167Lys) n.577C>A | dbSNP gnomAD v2 gnomAD v4 |
| X | g.78118114C= | CA2439138594 | PGK1 | c.585C= (p.Asn195=) c.501C= (p.Asn167=) n.577C= | |
| X | g.78118114C>G | CA413721491 | PGK1 | c.585C>G (p.Asn195Lys) c.501C>G (p.Asn167Lys) n.577C>G | |
| X | g.78118114C>T | CA517379934 | PGK1 | c.585C>T (p.Asn195=) c.501C>T (p.Asn167=) n.577C>T | |
| X | g.78118115del | CA2579650767 | PGK1 | c.586del (p.Tyr196ThrfsTer?) c.502del (p.Tyr168ThrfsTer?) n.578del | |
| X | g.78118115T>A | CA413721492 | PGK1 | c.586T>A (p.Tyr196Asn) c.502T>A (p.Tyr168Asn) n.578T>A | |
| X | g.78118115T>C | CA413721493 | PGK1 | c.586T>C (p.Tyr196His) c.502T>C (p.Tyr168His) n.578T>C | dbSNP gnomAD v3 gnomAD v4 |
| X | g.78118115T>G | CA413721494 | PGK1 | c.586T>G (p.Tyr196Asp) c.502T>G (p.Tyr168Asp) n.578T>G | |
| X | g.78118115T= | CA2439138595 | PGK1 | c.586T= (p.Tyr196=) c.502T= (p.Tyr168=) n.578T= | |
| X | g.78118116A= | CA2439138596 | PGK1 | c.587A= (p.Tyr196=) c.503A= (p.Tyr168=) n.579A= | |
| X | g.78118116A>C | CA413721495 | PGK1 | c.587A>C (p.Tyr196Ser) c.503A>C (p.Tyr168Ser) n.579A>C | |
| X | g.78118116A>G | CA413721497 | PGK1 | c.587A>G (p.Tyr196Cys) c.503A>G (p.Tyr168Cys) n.579A>G | dbSNP gnomAD v2 |
| X | g.78118116A>T | CA413721496 | PGK1 | c.587A>T (p.Tyr196Phe) c.503A>T (p.Tyr168Phe) n.579A>T | |
| X | g.78118117C>A | CA413721498 | PGK1 | c.588C>A (p.Tyr196Ter) c.504C>A (p.Tyr168Ter) n.580C>A | |
| X | g.78118117C>G | CA413721499 | PGK1 | c.588C>G (p.Tyr196Ter) c.504C>G (p.Tyr168Ter) n.580C>G |