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 |
|---|---|---|---|---|---|
| MT | m.3717C>A | CA913170194 | MT-ND1 | c.411C>A (p.Ala137=) | |
| MT | m.3717C= | CA2573328393 | MT-ND1 | c.411C= (p.Ala137=) | |
| MT | m.3717C>G | CA913170196 | MT-ND1 | c.411C>G (p.Ala137=) | |
| MT | m.3717C>T | CA913170198 | MT-ND1 | c.411C>T (p.Ala137=) | |
| MT | m.3718C>A | CA414773366 | MT-ND1 | c.412C>A (p.Gln138Lys) | |
| MT | m.3718C= | CA2573328400 | MT-ND1 | c.412C= (p.Gln138=) | |
| MT | m.3718C>G | CA414773367 | MT-ND1 | c.412C>G (p.Gln138Glu) | |
| MT | m.3718C>T | CA414773368 | MT-ND1 | c.412C>T (p.Gln138Ter) | COSMIC COSMIC |
| MT | m.3719A= | CA2573328403 | MT-ND1 | c.413A= (p.Gln138=) | |
| MT | m.3719A>C | CA414773369 | MT-ND1 | c.413A>C (p.Gln138Pro) | |
| MT | m.3719A>G | CA414773370 | MT-ND1 | c.413A>G (p.Gln138Arg) | |
| MT | m.3719A>T | CA414773371 | MT-ND1 | c.413A>T (p.Gln138Leu) | |
| MT | m.3720A= | CA2499563569 | MT-ND1 | c.414A= (p.Gln138=) | |
| MT | m.3720A>C | CA414773372 | MT-ND1 | c.414A>C (p.Gln138His) | |
| MT | m.3720A>G | CA337096651 | MT-ND1 | c.414A>G (p.Gln138=) | dbSNP |
| MT | m.3720A>T | CA414773373 | MT-ND1 | c.414A>T (p.Gln138His) | |
| MT | m.3721A= | CA2499563570 | MT-ND1 | c.415A= (p.Thr139=) | |
| MT | m.3721A>C | CA414773374 | MT-ND1 | c.415A>C (p.Thr139Pro) | |
| MT | m.3721A>G | CA337096653 | MT-ND1 | c.415A>G (p.Thr139Ala) | dbSNP |
| MT | m.3721A>T | CA414773375 | MT-ND1 | c.415A>T (p.Thr139Ser) | |
| MT | m.3722C>A | CA414773378 | MT-ND1 | c.416C>A (p.Thr139Lys) | |
| MT | m.3722C= | CA2573328407 | MT-ND1 | c.416C= (p.Thr139=) | |
| MT | m.3722C>G | CA414773376 | MT-ND1 | c.416C>G (p.Thr139Arg) | |
| MT | m.3722C>T | CA414773377 | MT-ND1 | c.416C>T (p.Thr139Ile) | |
| MT | m.3723A= | CA2573328410 | MT-ND1 | c.417A= (p.Thr139=) | |
| MT | m.3723A>C | CA913170205 | MT-ND1 | c.417A>C (p.Thr139=) | |
| MT | m.3723A>G | CA913170204 | MT-ND1 | c.417A>G (p.Thr139=) | |
| MT | m.3723A>T | CA913170203 | MT-ND1 | c.417A>T (p.Thr139=) | |
| MT | m.3724A= | CA2573328413 | MT-ND1 | c.418A= (p.Ile140=) | |
| MT | m.3724A>C | CA414773379 | MT-ND1 | c.418A>C (p.Ile140Leu) | |
| MT | m.3724A>G | CA414773380 | MT-ND1 | c.418A>G (p.Ile140Val) | dbSNP |
| MT | m.3724A>T | CA414773381 | MT-ND1 | c.418A>T (p.Ile140Phe) | |
| MT | m.3725T>A | CA414773382 | MT-ND1 | c.419T>A (p.Ile140Asn) | |
| MT | m.3725T>C | CA414773383 | MT-ND1 | c.419T>C (p.Ile140Thr) | |
| MT | m.3725T>G | CA414773384 | MT-ND1 | c.419T>G (p.Ile140Ser) | |
| MT | m.3725T= | CA2573328414 | MT-ND1 | c.419T= (p.Ile140=) | |
| MT | m.3726C>A | CA913170209 | MT-ND1 | c.420C>A (p.Ile140=) | |
| MT | m.3726C= | CA2499563571 | MT-ND1 | c.420C= (p.Ile140=) | |
| MT | m.3726C>G | CA414773385 | MT-ND1 | c.420C>G (p.Ile140Met) | |
| MT | m.3726C>T | CA913170210 | MT-ND1 | c.420C>T (p.Ile140=) | dbSNP |
| MT | m.3727T>A | CA414773386 | MT-ND1 | c.421T>A (p.Ser141Thr) | |
| MT | m.3727T>C | CA414773387 | MT-ND1 | c.421T>C (p.Ser141Pro) | |
| MT | m.3727T>G | CA414773388 | MT-ND1 | c.421T>G (p.Ser141Ala) | |
| MT | m.3727T= | CA2573328417 | MT-ND1 | c.421T= (p.Ser141=) | |
| MT | m.3728C>A | CA414773389 | MT-ND1 | c.422C>A (p.Ser141Ter) | |
| MT | m.3728C= | CA2573328419 | MT-ND1 | c.422C= (p.Ser141=) | |
| MT | m.3728C>G | CA414773391 | MT-ND1 | c.422C>G (p.Ser141Ter) | |
| MT | m.3728C>T | CA414773390 | MT-ND1 | c.422C>T (p.Ser141Leu) | |
| MT | m.3729A= | CA2499563572 | MT-ND1 | c.423A= (p.Ser141=) | |
| MT | m.3729A>C | CA913170215 | MT-ND1 | c.423A>C (p.Ser141=) |