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.4079A= | CA2499563722 | MT-ND1 | c.773A= (p.Tyr258=) | |
| MT | m.4079A>C | CA414774139 | MT-ND1 | c.773A>C (p.Tyr258Ser) | |
| MT | m.4079A>G | CA414774140 | MT-ND1 | c.773A>G (p.Tyr258Cys) | ClinVar dbSNP |
| MT | m.4079A>T | CA414774141 | MT-ND1 | c.773A>T (p.Tyr258Phe) | |
| MT | m.4080T>A | CA414774142 | MT-ND1 | c.774T>A (p.Tyr258Ter) | |
| MT | m.4080T>C | CA913176893 | MT-ND1 | c.774T>C (p.Tyr258=) | dbSNP |
| MT | m.4080T>G | CA414774143 | MT-ND1 | c.774T>G (p.Tyr258Ter) | |
| MT | m.4080T= | CA2499563723 | MT-ND1 | c.774T= (p.Tyr258=) | |
| MT | m.4081T>A | CA414774144 | MT-ND1 | c.775T>A (p.Phe259Ile) | |
| MT | m.4081T>C | CA414774145 | MT-ND1 | c.775T>C (p.Phe259Leu) | dbSNP |
| MT | m.4081T>G | CA414774146 | MT-ND1 | c.775T>G (p.Phe259Val) | |
| MT | m.4081T= | CA2499563724 | MT-ND1 | c.775T= (p.Phe259=) | |
| MT | m.4082T>A | CA414774147 | MT-ND1 | c.776T>A (p.Phe259Tyr) | |
| MT | m.4082T>C | CA414774148 | MT-ND1 | c.776T>C (p.Phe259Ser) | ClinVar dbSNP |
| MT | m.4082T>G | CA414774149 | MT-ND1 | c.776T>G (p.Phe259Cys) | |
| MT | m.4082T= | CA2499563725 | MT-ND1 | c.776T= (p.Phe259=) | |
| MT | m.4083T>A | CA414774150 | MT-ND1 | c.777T>A (p.Phe259Leu) | |
| MT | m.4083T>C | CA913176899 | MT-ND1 | c.777T>C (p.Phe259=) | dbSNP |
| MT | m.4083T>G | CA414774151 | MT-ND1 | c.777T>G (p.Phe259Leu) | |
| MT | m.4083T= | CA2499563726 | MT-ND1 | c.777T= (p.Phe259=) | |
| MT | m.4084G>A | CA414774152 | MT-ND1 | c.778G>A (p.Val260Ile) | ClinVar dbSNP |
| MT | m.4084G>C | CA414774153 | MT-ND1 | c.778G>C (p.Val260Leu) | |
| MT | m.4084G= | CA2499563727 | MT-ND1 | c.778G= (p.Val260=) | |
| MT | m.4084G>T | CA414774154 | MT-ND1 | c.778G>T (p.Val260Phe) | |
| MT | m.4085T>A | CA414774155 | MT-ND1 | c.779T>A (p.Val260Asp) | |
| MT | m.4085T>C | CA414774156 | MT-ND1 | c.779T>C (p.Val260Ala) | |
| MT | m.4085T>G | CA414774157 | MT-ND1 | c.779T>G (p.Val260Gly) | |
| MT | m.4085T= | CA2513610542 | MT-ND1 | c.779T= (p.Val260=) | |
| MT | m.4085_4086insTCCTAGGAAGATTGTAGTGGTGAGGGTGTTTATTATAATAATGTTTGTGTATTCGGCTATGAAGAATAGGGCGAAGGGGCCTGCGG | CA2573104428 | MT-ND1 | c.779_780insTCCTAGGAAGATTGTAGTGGTGAGGGTGTTTATTATAATAATGTTTGTGTATTCGGCTATGAAGAATAGGGCGAAGGGGCCTGCGG (p.Thr261ProfsTer35) | |
| MT | m.4086C>A | CA337096785 | MT-ND1 | c.780C>A (p.Val260=) | |
| MT | m.4086C= | CA2499563728 | MT-ND1 | c.780C= (p.Val260=) | |
| MT | m.4086C>G | CA337096787 | MT-ND1 | c.780C>G (p.Val260=) | |
| MT | m.4086C>T | CA913176903 | MT-ND1 | c.780C>T (p.Val260=) | dbSNP |
| MT | m.4087A= | CA2573329231 | MT-ND1 | c.781A= (p.Thr261=) | |
| MT | m.4087A>C | CA414774158 | MT-ND1 | c.781A>C (p.Thr261Pro) | |
| MT | m.4087A>G | CA414774159 | MT-ND1 | c.781A>G (p.Thr261Ala) | |
| MT | m.4087A>T | CA414774160 | MT-ND1 | c.781A>T (p.Thr261Ser) | |
| MT | m.4088C>A | CA414774163 | MT-ND1 | c.782C>A (p.Thr261Asn) | |
| MT | m.4088C= | CA2573329233 | MT-ND1 | c.782C= (p.Thr261=) | |
| MT | m.4088C>G | CA414774161 | MT-ND1 | c.782C>G (p.Thr261Ser) | |
| MT | m.4088C>T | CA414774162 | MT-ND1 | c.782C>T (p.Thr261Ile) | |
| MT | m.4089C>A | CA913176909 | MT-ND1 | c.783C>A (p.Thr261=) | |
| MT | m.4089C= | CA2573329235 | MT-ND1 | c.783C= (p.Thr261=) | |
| MT | m.4089C>G | CA913176908 | MT-ND1 | c.783C>G (p.Thr261=) | |
| MT | m.4089C>T | CA913176907 | MT-ND1 | c.783C>T (p.Thr261=) | dbSNP |
| MT | m.4090A= | CA2573329237 | MT-ND1 | c.784A= (p.Lys262=) | |
| MT | m.4090A>C | CA414774164 | MT-ND1 | c.784A>C (p.Lys262Gln) | |
| MT | m.4090A>G | CA414774165 | MT-ND1 | c.784A>G (p.Lys262Glu) | |
| MT | m.4090A>T | CA414774166 | MT-ND1 | c.784A>T (p.Lys262Ter) | |
| MT | m.4091A= | CA2513225506 | MT-ND1 | c.785A= (p.Lys262=) |