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 |
|---|---|---|---|---|---|
| 17 | g.47221684A= | CA2262577580 | MYL4 | c.316A= (p.Met106=) c.27A= c.*102A= (n.*102A=) c.409A= (p.Met137=) c.314-48A= (n.314-48A=) c.106A= (p.Met36=) | |
| 17 | g.47221684A>C | CA400022157 | MYL4 | c.316A>C (p.Met106Leu) c.27A>C c.*102A>C (n.*102A>C) c.409A>C (p.Met137Leu) c.314-48A>C (n.314-48A>C) c.106A>C (p.Met36Leu) | |
| 17 | g.47221684A>G | CA8622718 | MYL4 | c.316A>G (p.Met106Val) c.27A>G c.*102A>G (n.*102A>G) c.409A>G (p.Met137Val) c.314-48A>G (n.314-48A>G) c.106A>G (p.Met36Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.47221684A>T | CA400022158 | MYL4 | c.316A>T (p.Met106Leu) c.27A>T c.*102A>T (n.*102A>T) c.409A>T (p.Met137Leu) c.314-48A>T (n.314-48A>T) c.106A>T (p.Met36Leu) | |
| 17 | g.47221685T>A | CA400022159 | MYL4 | c.317T>A (p.Met106Lys) c.28T>A c.*103T>A (n.*103T>A) c.410T>A (p.Met137Lys) c.314-47T>A (n.314-47T>A) c.107T>A (p.Met36Lys) | |
| 17 | g.47221685T>C | CA8622719 | MYL4 | c.317T>C (p.Met106Thr) c.28T>C c.*103T>C (n.*103T>C) c.410T>C (p.Met137Thr) c.314-47T>C (n.314-47T>C) c.107T>C (p.Met36Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.47221685T>G | CA400022160 | MYL4 | c.317T>G (p.Met106Arg) c.28T>G c.*103T>G (n.*103T>G) c.410T>G (p.Met137Arg) c.314-47T>G (n.314-47T>G) c.107T>G (p.Met36Arg) | |
| 17 | g.47221685T= | CA2262577581 | MYL4 | c.317T= (p.Met106=) c.28T= c.*103T= (n.*103T=) c.410T= (p.Met137=) c.314-47T= (n.314-47T=) c.107T= (p.Met36=) | |
| 17 | g.47221686G>A | CA8622720 | MYL4 | c.318G>A (p.Met106Ile) c.29G>A c.*104G>A (n.*104G>A) c.411G>A (p.Met137Ile) c.314-46G>A (n.314-46G>A) c.108G>A (p.Met36Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.47221686G>C | CA400022162 | MYL4 | c.318G>C (p.Met106Ile) c.29G>C c.*104G>C (n.*104G>C) c.411G>C (p.Met137Ile) c.314-46G>C (n.314-46G>C) c.108G>C (p.Met36Ile) | gnomAD v4 |
| 17 | g.47221686G= | CA2262577582 | MYL4 | c.318G= (p.Met106=) c.29G= c.*104G= (n.*104G=) c.411G= (p.Met137=) c.314-46G= (n.314-46G=) c.108G= (p.Met36=) | |
| 17 | g.47221686G>T | CA400022161 | MYL4 | c.318G>T (p.Met106Ile) c.29G>T c.*104G>T (n.*104G>T) c.411G>T (p.Met137Ile) c.314-46G>T (n.314-46G>T) c.108G>T (p.Met36Ile) | |
| 17 | g.47221687A>C | CA400022163 | MYL4 | c.319A>C (p.Asn107His) c.30A>C c.*105A>C (n.*105A>C) c.412A>C (p.Asn138His) c.314-45A>C (n.314-45A>C) c.109A>C (p.Asn37His) | |
| 17 | g.47221687A>G | CA400022164 | MYL4 | c.319A>G (p.Asn107Asp) c.30A>G c.*105A>G (n.*105A>G) c.412A>G (p.Asn138Asp) c.314-45A>G (n.314-45A>G) c.109A>G (p.Asn37Asp) | |
| 17 | g.47221687A>T | CA400022165 | MYL4 | c.319A>T (p.Asn107Tyr) c.30A>T c.*105A>T (n.*105A>T) c.412A>T (p.Asn138Tyr) c.314-45A>T (n.314-45A>T) c.109A>T (p.Asn37Tyr) | |
| 17 | g.47221688A= | CA2262577583 | MYL4 | c.320A= (p.Asn107=) c.31A= c.*106A= (n.*106A=) c.413A= (p.Asn138=) c.314-44A= (n.314-44A=) c.110A= (p.Asn37=) | |
| 17 | g.47221688A>C | CA400022166 | MYL4 | c.320A>C (p.Asn107Thr) c.31A>C c.*106A>C (n.*106A>C) c.413A>C (p.Asn138Thr) c.314-44A>C (n.314-44A>C) c.110A>C (p.Asn37Thr) | dbSNP |
| 17 | g.47221688A>G | CA400022167 | MYL4 | c.320A>G (p.Asn107Ser) c.31A>G c.*106A>G (n.*106A>G) c.413A>G (p.Asn138Ser) c.314-44A>G (n.314-44A>G) c.110A>G (p.Asn37Ser) | |
| 17 | g.47221688A>T | CA400022168 | MYL4 | c.320A>T (p.Asn107Ile) c.31A>T c.*106A>T (n.*106A>T) c.413A>T (p.Asn138Ile) c.314-44A>T (n.314-44A>T) c.110A>T (p.Asn37Ile) | |
| 17 | g.47221689T>A | CA400022169 | MYL4 | c.321T>A (p.Asn107Lys) c.32T>A c.*107T>A (n.*107T>A) c.414T>A (p.Asn138Lys) c.314-43T>A (n.314-43T>A) c.111T>A (p.Asn37Lys) | |
| 17 | g.47221689T>C | CA500433845 | MYL4 | c.321T>C (p.Asn107=) c.32T>C c.*107T>C (n.*107T>C) c.414T>C (p.Asn138=) c.314-43T>C (n.314-43T>C) c.111T>C (p.Asn37=) | gnomAD v4 |
| 17 | g.47221689T>G | CA400022170 | MYL4 | c.321T>G (p.Asn107Lys) c.32T>G c.*107T>G (n.*107T>G) c.414T>G (p.Asn138Lys) c.314-43T>G (n.314-43T>G) c.111T>G (p.Asn37Lys) | |
| 17 | g.47221690G>A | CA400022171 | MYL4 | c.322G>A (p.Val108Ile) c.33G>A c.*108G>A (n.*108G>A) c.415G>A (p.Val139Ile) c.314-42G>A (n.314-42G>A) c.112G>A (p.Val38Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.47221690G>C | CA400022173 | MYL4 | c.322G>C (p.Val108Leu) c.33G>C c.*108G>C (n.*108G>C) c.415G>C (p.Val139Leu) c.314-42G>C (n.314-42G>C) c.112G>C (p.Val38Leu) | |
| 17 | g.47221690G= | CA2262577584 | MYL4 | c.322G= (p.Val108=) c.33G= c.*108G= (n.*108G=) c.415G= (p.Val139=) c.314-42G= (n.314-42G=) c.112G= (p.Val38=) | |
| 17 | g.47221690G>T | CA400022172 | MYL4 | c.322G>T (p.Val108Phe) c.33G>T c.*108G>T (n.*108G>T) c.415G>T (p.Val139Phe) c.314-42G>T (n.314-42G>T) c.112G>T (p.Val38Phe) | |
| 17 | g.47221691T>A | CA400022174 | MYL4 | c.323T>A (p.Val108Asp) c.34T>A c.*109T>A (n.*109T>A) c.416T>A (p.Val139Asp) c.314-41T>A (n.314-41T>A) c.113T>A (p.Val38Asp) | |
| 17 | g.47221691T>C | CA400022175 | MYL4 | c.323T>C (p.Val108Ala) c.34T>C c.*109T>C (n.*109T>C) c.416T>C (p.Val139Ala) c.314-41T>C (n.314-41T>C) c.113T>C (p.Val38Ala) | |
| 17 | g.47221691T>G | CA400022176 | MYL4 | c.323T>G (p.Val108Gly) c.34T>G c.*109T>G (n.*109T>G) c.416T>G (p.Val139Gly) c.314-41T>G (n.314-41T>G) c.113T>G (p.Val38Gly) | |
| 17 | g.47221692C>A | CA500433846 | MYL4 | c.324C>A (p.Val108=) c.35C>A c.*110C>A (n.*110C>A) c.417C>A (p.Val139=) c.314-40C>A (n.314-40C>A) c.114C>A (p.Val38=) | |
| 17 | g.47221692C= | CA2262577585 | MYL4 | c.324C= (p.Val108=) c.35C= c.*110C= (n.*110C=) c.417C= (p.Val139=) c.314-40C= (n.314-40C=) c.114C= (p.Val38=) | |
| 17 | g.47221692C>G | CA500433847 | MYL4 | c.324C>G (p.Val108=) c.35C>G c.*110C>G (n.*110C>G) c.417C>G (p.Val139=) c.314-40C>G (n.314-40C>G) c.114C>G (p.Val38=) | gnomAD v4 |
| 17 | g.47221692C>T | CA291225707 | MYL4 | c.324C>T (p.Val108=) c.35C>T c.*110C>T (n.*110C>T) c.417C>T (p.Val139=) c.314-40C>T (n.314-40C>T) c.114C>T (p.Val38=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.47221693A>C | CA400022177 | MYL4 | c.325A>C (p.Lys109Gln) c.36A>C c.*111A>C (n.*111A>C) c.418A>C (p.Lys140Gln) c.314-39A>C (n.314-39A>C) c.115A>C (p.Lys39Gln) | |
| 17 | g.47221693A>G | CA400022179 | MYL4 | c.325A>G (p.Lys109Glu) c.36A>G c.*111A>G (n.*111A>G) c.418A>G (p.Lys140Glu) c.314-39A>G (n.314-39A>G) c.115A>G (p.Lys39Glu) | |
| 17 | g.47221693A>T | CA400022178 | MYL4 | c.325A>T (p.Lys109Ter) c.36A>T c.*111A>T (n.*111A>T) c.418A>T (p.Lys140Ter) c.314-39A>T (n.314-39A>T) c.115A>T (p.Lys39Ter) | |
| 17 | g.47221694A>C | CA400022180 | MYL4 | c.326A>C (p.Lys109Thr) c.37A>C c.*112A>C (n.*112A>C) c.419A>C (p.Lys140Thr) c.314-38A>C (n.314-38A>C) c.116A>C (p.Lys39Thr) | |
| 17 | g.47221694A>G | CA400022181 | MYL4 | c.326A>G (p.Lys109Arg) c.37A>G c.*112A>G (n.*112A>G) c.419A>G (p.Lys140Arg) c.314-38A>G (n.314-38A>G) c.116A>G (p.Lys39Arg) | |
| 17 | g.47221694A>T | CA400022182 | MYL4 | c.326A>T (p.Lys109Met) c.37A>T c.*112A>T (n.*112A>T) c.419A>T (p.Lys140Met) c.314-38A>T (n.314-38A>T) c.116A>T (p.Lys39Met) | |
| 17 | g.47221695G>A | CA500433850 | MYL4 | c.327G>A (p.Lys109=) c.38G>A c.*113G>A (n.*113G>A) c.420G>A (p.Lys140=) c.314-37G>A (n.314-37G>A) c.117G>A (p.Lys39=) | |
| 17 | g.47221695G>C | CA400022183 | MYL4 | c.327G>C (p.Lys109Asn) c.38G>C c.*113G>C (n.*113G>C) c.420G>C (p.Lys140Asn) c.314-37G>C (n.314-37G>C) c.117G>C (p.Lys39Asn) | |
| 17 | g.47221695G>T | CA400022184 | MYL4 | c.327G>T (p.Lys109Asn) c.38G>T c.*113G>T (n.*113G>T) c.420G>T (p.Lys140Asn) c.314-37G>T (n.314-37G>T) c.117G>T (p.Lys39Asn) | |
| 17 | g.47221696A>C | CA400022185 | MYL4 | c.328A>C (p.Met110Leu) c.39A>C c.*114A>C (n.*114A>C) c.421A>C (p.Met141Leu) c.314-36A>C (n.314-36A>C) c.118A>C (p.Met40Leu) | |
| 17 | g.47221696A>G | CA400022186 | MYL4 | c.328A>G (p.Met110Val) c.39A>G c.*114A>G (n.*114A>G) c.421A>G (p.Met141Val) c.314-36A>G (n.314-36A>G) c.118A>G (p.Met40Val) | |
| 17 | g.47221696A>T | CA400022187 | MYL4 | c.328A>T (p.Met110Leu) c.39A>T c.*114A>T (n.*114A>T) c.421A>T (p.Met141Leu) c.314-36A>T (n.314-36A>T) c.118A>T (p.Met40Leu) | |
| 17 | g.47221697T>A | CA400022188 | MYL4 | c.329T>A (p.Met110Lys) c.40T>A c.*115T>A (n.*115T>A) c.422T>A (p.Met141Lys) c.314-35T>A (n.314-35T>A) c.119T>A (p.Met40Lys) | gnomAD v4 |
| 17 | g.47221697T>C | CA400022189 | MYL4 | c.329T>C (p.Met110Thr) c.40T>C c.*115T>C (n.*115T>C) c.422T>C (p.Met141Thr) c.314-35T>C (n.314-35T>C) c.119T>C (p.Met40Thr) | gnomAD v4 |
| 17 | g.47221697T>G | CA400022190 | MYL4 | c.329T>G (p.Met110Arg) c.40T>G c.*115T>G (n.*115T>G) c.422T>G (p.Met141Arg) c.314-35T>G (n.314-35T>G) c.119T>G (p.Met40Arg) | |
| 17 | g.47221698G>A | CA400022191 | MYL4 | c.330G>A (p.Met110Ile) c.41G>A c.*116G>A (n.*116G>A) c.423G>A (p.Met141Ile) c.314-34G>A (n.314-34G>A) c.120G>A (p.Met40Ile) | |
| 17 | g.47221698G>C | CA400022193 | MYL4 | c.330G>C (p.Met110Ile) c.41G>C c.*116G>C (n.*116G>C) c.423G>C (p.Met141Ile) c.314-34G>C (n.314-34G>C) c.120G>C (p.Met40Ile) |