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 |
|---|---|---|---|---|---|
| Y | g.6868038A>C | CA414966169 | AMELY | c.572T>G (p.Val191Gly) c.614T>G (p.Val205Gly) | |
| Y | g.6868038A>G | CA414966173 | AMELY | c.572T>C (p.Val191Ala) c.614T>C (p.Val205Ala) | |
| Y | g.6868038A>T | CA414966171 | AMELY | c.572T>A (p.Val191Glu) c.614T>A (p.Val205Glu) | |
| Y | g.6868039C>A | CA414966176 | AMELY | c.571G>T (p.Val191Leu) c.613G>T (p.Val205Leu) | COSMIC |
| Y | g.6868039C>G | CA414966179 | AMELY | c.571G>C (p.Val191Leu) c.613G>C (p.Val205Leu) | |
| Y | g.6868039C>T | CA414966178 | AMELY | c.571G>A (p.Val191Met) c.613G>A (p.Val205Met) | |
| Y | g.6868040T>A | CA414966182 | AMELY | c.570A>T (p.Glu190Asp) c.612A>T (p.Glu204Asp) | |
| Y | g.6868040T>C | CA519496006 | AMELY | c.570A>G (p.Glu190=) c.612A>G (p.Glu204=) | |
| Y | g.6868040T>G | CA414966184 | AMELY | c.570A>C (p.Glu190Asp) c.612A>C (p.Glu204Asp) | |
| Y | g.6868041T>A | CA414966186 | AMELY | c.569A>T (p.Glu190Val) c.611A>T (p.Glu204Val) | |
| Y | g.6868041T>C | CA414966189 | AMELY | c.569A>G (p.Glu190Gly) c.611A>G (p.Glu204Gly) | |
| Y | g.6868041T>G | CA414966188 | AMELY | c.569A>C (p.Glu190Ala) c.611A>C (p.Glu204Ala) | |
| Y | g.6868042C>A | CA414966192 | AMELY | c.568G>T (p.Glu190Ter) c.610G>T (p.Glu204Ter) | |
| Y | g.6868042C>G | CA414966196 | AMELY | c.568G>C (p.Glu190Gln) c.610G>C (p.Glu204Gln) | |
| Y | g.6868042C>T | CA414966194 | AMELY | c.568G>A (p.Glu190Lys) c.610G>A (p.Glu204Lys) | |
| Y | g.6868043C>A | CA414966198 | AMELY | c.567G>T (p.Glu189Asp) c.609G>T (p.Glu203Asp) | |
| Y | g.6868043C>G | CA414966200 | AMELY | c.567G>C (p.Glu189Asp) c.609G>C (p.Glu203Asp) | |
| Y | g.6868043C>T | CA519496012 | AMELY | c.567G>A (p.Glu189=) c.609G>A (p.Glu203=) | |
| Y | g.6868044T>A | CA414966202 | AMELY | c.566A>T (p.Glu189Val) c.608A>T (p.Glu203Val) | |
| Y | g.6868044T>C | CA414966204 | AMELY | c.566A>G (p.Glu189Gly) c.608A>G (p.Glu203Gly) | |
| Y | g.6868044T>G | CA414966206 | AMELY | c.566A>C (p.Glu189Ala) c.608A>C (p.Glu203Ala) | |
| Y | g.6868045C>A | CA414966208 | AMELY | c.565G>T (p.Glu189Ter) c.607G>T (p.Glu203Ter) | |
| Y | g.6868045C>G | CA414966210 | AMELY | c.565G>C (p.Glu189Gln) c.607G>C (p.Glu203Gln) | |
| Y | g.6868045C>T | CA414966212 | AMELY | c.565G>A (p.Glu189Lys) c.607G>A (p.Glu203Lys) | |
| Y | g.6868046C>A | CA414966214 | AMELY | c.564G>T (p.Gln188His) c.606G>T (p.Gln202His) | |
| Y | g.6868046C= | CA2469903198 | AMELY | c.564G= (p.Gln188=) c.606G= (p.Gln202=) | |
| Y | g.6868046C>G | CA414966215 | AMELY | c.564G>C (p.Gln188His) c.606G>C (p.Gln202His) | dbSNP gnomAD v2 |
| Y | g.6868046C>T | CA519496017 | AMELY | c.564G>A (p.Gln188=) c.606G>A (p.Gln202=) | |
| Y | g.6868047T>A | CA414966218 | AMELY | c.563A>T (p.Gln188Leu) c.605A>T (p.Gln202Leu) | |
| Y | g.6868047T>C | CA414966222 | AMELY | c.563A>G (p.Gln188Arg) c.605A>G (p.Gln202Arg) | |
| Y | g.6868047T>G | CA414966220 | AMELY | c.563A>C (p.Gln188Pro) c.605A>C (p.Gln202Pro) | |
| Y | g.6868048G>A | CA414966224 | AMELY | c.562C>T (p.Gln188Ter) c.604C>T (p.Gln202Ter) | dbSNP gnomAD v2 |
| Y | g.6868048G>C | CA414966226 | AMELY | c.562C>G (p.Gln188Glu) c.604C>G (p.Gln202Glu) | |
| Y | g.6868048G= | CA2469903199 | AMELY | c.562C= (p.Gln188=) c.604C= (p.Gln202=) | |
| Y | g.6868048G>T | CA414966228 | AMELY | c.562C>A (p.Gln188Lys) c.604C>A (p.Gln202Lys) | |
| Y | g.6868049C>A | CA414966233 | AMELY | c.561G>T (p.Lys187Asn) c.603G>T (p.Lys201Asn) | |
| Y | g.6868049C>G | CA414966235 | AMELY | c.561G>C (p.Lys187Asn) c.603G>C (p.Lys201Asn) | |
| Y | g.6868049C>T | CA519496025 | AMELY | c.561G>A (p.Lys187=) c.603G>A (p.Lys201=) | |
| Y | g.6868050T>A | CA414966238 | AMELY | c.560A>T (p.Lys187Met) c.602A>T (p.Lys201Met) | |
| Y | g.6868050T>C | CA414966239 | AMELY | c.560A>G (p.Lys187Arg) c.602A>G (p.Lys201Arg) | dbSNP gnomAD v2 |
| Y | g.6868050T>G | CA414966241 | AMELY | c.560A>C (p.Lys187Thr) c.602A>C (p.Lys201Thr) | |
| Y | g.6868050T= | CA2469903200 | AMELY | c.560A= (p.Lys187=) c.602A= (p.Lys201=) | |
| Y | g.6868051T>A | CA414966245 | AMELY | c.559A>T (p.Lys187Ter) c.601A>T (p.Lys201Ter) | |
| Y | g.6868051T>C | CA414966247 | AMELY | c.559A>G (p.Lys187Glu) c.601A>G (p.Lys201Glu) | |
| Y | g.6868051T>G | CA414966244 | AMELY | c.559A>C (p.Lys187Gln) c.601A>C (p.Lys201Gln) | |
| Y | g.6868052G>A | CA519496032 | AMELY | c.558C>T (p.Thr186=) c.600C>T (p.Thr200=) | |
| Y | g.6868052G>C | CA519496036 | AMELY | c.558C>G (p.Thr186=) c.600C>G (p.Thr200=) | |
| Y | g.6868052G>T | CA519496042 | AMELY | c.558C>A (p.Thr186=) c.600C>A (p.Thr200=) | |
| Y | g.6868053G>A | CA414966250 | AMELY | c.557C>T (p.Thr186Ile) c.599C>T (p.Thr200Ile) | |
| Y | g.6868053G>C | CA414966251 | AMELY | c.557C>G (p.Thr186Ser) c.599C>G (p.Thr200Ser) |