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.67717507A>C | CA413424408 | AR | c.*551A>C (n.*551A>C) c.2203A>C (p.Met735Leu) c.830A>C (n.830A>C) c.2173+5818A>C (n.2173+5818A>C) c.607A>C (p.Met203Leu) c.1633A>C (p.Met545Leu) | |
| X | g.67717507A>G | CA413424410 | AR | c.*551A>G (n.*551A>G) c.2203A>G (p.Met735Val) c.830A>G (n.830A>G) c.2173+5818A>G (n.2173+5818A>G) c.607A>G (p.Met203Val) c.1633A>G (p.Met545Val) | |
| X | g.67717507A>T | CA413424412 | AR | c.*551A>T (n.*551A>T) c.2203A>T (p.Met735Leu) c.830A>T (n.830A>T) c.2173+5818A>T (n.2173+5818A>T) c.607A>T (p.Met203Leu) c.1633A>T (p.Met545Leu) | |
| X | g.67717508T>A | CA413424415 | AR | c.*552T>A (n.*552T>A) c.2204T>A (p.Met735Lys) c.831T>A (n.831T>A) c.2173+5819T>A (n.2173+5819T>A) c.608T>A (p.Met203Lys) c.1634T>A (p.Met545Lys) | |
| X | g.67717508T>C | CA330771842 | AR | c.*552T>C (n.*552T>C) c.2204T>C (p.Met735Thr) c.831T>C (n.831T>C) c.2173+5819T>C (n.2173+5819T>C) c.608T>C (p.Met203Thr) c.1634T>C (p.Met545Thr) | dbSNP gnomAD v4 |
| X | g.67717508T>G | CA413424418 | AR | c.*552T>G (n.*552T>G) c.2204T>G (p.Met735Arg) c.831T>G (n.831T>G) c.2173+5819T>G (n.2173+5819T>G) c.608T>G (p.Met203Arg) c.1634T>G (p.Met545Arg) | dbSNP |
| X | g.67717508T= | CA2435132634 | AR | c.*552T= (n.*552T=) c.2204T= (p.Met735=) c.831T= (n.831T=) c.2173+5819T= (n.2173+5819T=) c.608T= (p.Met203=) c.1634T= (p.Met545=) | |
| X | g.67717509G>A | CA413424420 | AR | c.*553G>A (n.*553G>A) c.2205G>A (p.Met735Ile) c.832G>A (n.832G>A) c.2173+5820G>A (n.2173+5820G>A) c.609G>A (p.Met203Ile) c.1635G>A (p.Met545Ile) | dbSNP gnomAD v4 |
| X | g.67717509G>C | CA413424424 | AR | c.*553G>C (n.*553G>C) c.2205G>C (p.Met735Ile) c.832G>C (n.832G>C) c.2173+5820G>C (n.2173+5820G>C) c.609G>C (p.Met203Ile) c.1635G>C (p.Met545Ile) | dbSNP |
| X | g.67717509G>T | CA413424422 | AR | c.*553G>T (n.*553G>T) c.2205G>T (p.Met735Ile) c.832G>T (n.832G>T) c.2173+5820G>T (n.2173+5820G>T) c.609G>T (p.Met203Ile) c.1635G>T (p.Met545Ile) | |
| X | g.67717510G>A | CA10436604 | AR | c.*554G>A (n.*554G>A) c.2206G>A (p.Ala736Thr) c.833G>A (n.833G>A) c.2173+5821G>A (n.2173+5821G>A) c.610G>A (p.Ala204Thr) c.1636G>A (p.Ala546Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.67717510G>C | CA413424428 | AR | c.*554G>C (n.*554G>C) c.2206G>C (p.Ala736Pro) c.833G>C (n.833G>C) c.2173+5821G>C (n.2173+5821G>C) c.610G>C (p.Ala204Pro) c.1636G>C (p.Ala546Pro) | dbSNP COSMIC COSMIC |
| X | g.67717510G= | CA2435132635 | AR | c.*554G= (n.*554G=) c.2206G= (p.Ala736=) c.833G= (n.833G=) c.2173+5821G= (n.2173+5821G=) c.610G= (p.Ala204=) c.1636G= (p.Ala546=) | |
| X | g.67717510G>T | CA413424430 | AR | c.*554G>T (n.*554G>T) c.2206G>T (p.Ala736Ser) c.833G>T (n.833G>T) c.2173+5821G>T (n.2173+5821G>T) c.610G>T (p.Ala204Ser) c.1636G>T (p.Ala546Ser) | dbSNP |
| X | g.67717511C>A | CA413424433 | AR | c.*555C>A (n.*555C>A) c.2207C>A (p.Ala736Asp) c.834C>A (n.834C>A) c.2173+5822C>A (n.2173+5822C>A) c.611C>A (p.Ala204Asp) c.1637C>A (p.Ala546Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.67717511C= | CA2435132636 | AR | c.*555C= (n.*555C=) c.2207C= (p.Ala736=) c.834C= (n.834C=) c.2173+5822C= (n.2173+5822C=) c.611C= (p.Ala204=) c.1637C= (p.Ala546=) | |
| X | g.67717511C>G | CA413424436 | AR | c.*555C>G (n.*555C>G) c.2207C>G (p.Ala736Gly) c.834C>G (n.834C>G) c.2173+5822C>G (n.2173+5822C>G) c.611C>G (p.Ala204Gly) c.1637C>G (p.Ala546Gly) | dbSNP |
| X | g.67717511C>T | CA10436605 | AR | c.*555C>T (n.*555C>T) c.2207C>T (p.Ala736Val) c.834C>T (n.834C>T) c.2173+5822C>T (n.2173+5822C>T) c.611C>T (p.Ala204Val) c.1637C>T (p.Ala546Val) | dbSNP ExAC gnomAD v2 |
| X | g.67717512T>A | CA516970344 | AR | c.*556T>A (n.*556T>A) c.2208T>A (p.Ala736=) c.835T>A (n.835T>A) c.2173+5823T>A (n.2173+5823T>A) c.612T>A (p.Ala204=) c.1638T>A (p.Ala546=) | |
| X | g.67717512T>C | CA516970345 | AR | c.*556T>C (n.*556T>C) c.2208T>C (p.Ala736=) c.835T>C (n.835T>C) c.2173+5823T>C (n.2173+5823T>C) c.612T>C (p.Ala204=) c.1638T>C (p.Ala546=) | dbSNP |
| X | g.67717512T>G | CA516970346 | AR | c.*556T>G (n.*556T>G) c.2208T>G (p.Ala736=) c.835T>G (n.835T>G) c.2173+5823T>G (n.2173+5823T>G) c.612T>G (p.Ala204=) c.1638T>G (p.Ala546=) | |
| X | g.67717513G>A | CA413424440 | AR | c.*557G>A (n.*557G>A) c.2209G>A (p.Val737Ile) c.836G>A (n.836G>A) c.2173+5824G>A (n.2173+5824G>A) c.613G>A (p.Val205Ile) c.1639G>A (p.Val547Ile) | dbSNP |
| X | g.67717513G>C | CA413424442 | AR | c.*557G>C (n.*557G>C) c.2209G>C (p.Val737Leu) c.836G>C (n.836G>C) c.2173+5824G>C (n.2173+5824G>C) c.613G>C (p.Val205Leu) c.1639G>C (p.Val547Leu) | dbSNP |
| X | g.67717513G>T | CA413424444 | AR | c.*557G>T (n.*557G>T) c.2209G>T (p.Val737Phe) c.836G>T (n.836G>T) c.2173+5824G>T (n.2173+5824G>T) c.613G>T (p.Val205Phe) c.1639G>T (p.Val547Phe) | |
| X | g.67717514T>A | CA413424446 | AR | c.*558T>A (n.*558T>A) c.2210T>A (p.Val737Asp) c.837T>A (n.837T>A) c.2173+5825T>A (n.2173+5825T>A) c.614T>A (p.Val205Asp) c.1640T>A (p.Val547Asp) | dbSNP |
| X | g.67717514T>C | CA413424448 | AR | c.*558T>C (n.*558T>C) c.2210T>C (p.Val737Ala) c.837T>C (n.837T>C) c.2173+5825T>C (n.2173+5825T>C) c.614T>C (p.Val205Ala) c.1640T>C (p.Val547Ala) | dbSNP |
| X | g.67717514T>G | CA413424449 | AR | c.*558T>G (n.*558T>G) c.2210T>G (p.Val737Gly) c.837T>G (n.837T>G) c.2173+5825T>G (n.2173+5825T>G) c.614T>G (p.Val205Gly) c.1640T>G (p.Val547Gly) | dbSNP |
| X | g.67717515C>A | CA516970347 | AR | c.*559C>A (n.*559C>A) c.2211C>A (p.Val737=) c.838C>A (n.838C>A) c.2173+5826C>A (n.2173+5826C>A) c.615C>A (p.Val205=) c.1641C>A (p.Val547=) | dbSNP |
| X | g.67717515C= | CA2435132637 | AR | c.*559C= (n.*559C=) c.2211C= (p.Val737=) c.838C= (n.838C=) c.2173+5826C= (n.2173+5826C=) c.615C= (p.Val205=) c.1641C= (p.Val547=) | |
| X | g.67717515C>G | CA516970348 | AR | c.*559C>G (n.*559C>G) c.2211C>G (p.Val737=) c.838C>G (n.838C>G) c.2173+5826C>G (n.2173+5826C>G) c.615C>G (p.Val205=) c.1641C>G (p.Val547=) | dbSNP |
| X | g.67717515C>T | CA10436606 | AR | c.*559C>T (n.*559C>T) c.2211C>T (p.Val737=) c.838C>T (n.838C>T) c.2173+5826C>T (n.2173+5826C>T) c.615C>T (p.Val205=) c.1641C>T (p.Val547=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67717516A>C | CA413424456 | AR | c.*560A>C (n.*560A>C) c.2212A>C (p.Ile738Leu) c.839A>C (n.839A>C) c.2173+5827A>C (n.2173+5827A>C) c.616A>C (p.Ile206Leu) c.1642A>C (p.Ile548Leu) | dbSNP |
| X | g.67717516A>G | CA413424452 | AR | c.*560A>G (n.*560A>G) c.2212A>G (p.Ile738Val) c.839A>G (n.839A>G) c.2173+5827A>G (n.2173+5827A>G) c.616A>G (p.Ile206Val) c.1642A>G (p.Ile548Val) | gnomAD v4 |
| X | g.67717516A>T | CA413424454 | AR | c.*560A>T (n.*560A>T) c.2212A>T (p.Ile738Phe) c.839A>T (n.839A>T) c.2173+5827A>T (n.2173+5827A>T) c.616A>T (p.Ile206Phe) c.1642A>T (p.Ile548Phe) | dbSNP |
| X | g.67717517T>A | CA330771843 | AR | c.*561T>A (n.*561T>A) c.2213T>A (p.Ile738Asn) c.840T>A (n.840T>A) c.2173+5828T>A (n.2173+5828T>A) c.617T>A (p.Ile206Asn) c.1643T>A (p.Ile548Asn) | dbSNP |
| X | g.67717517T>C | CA413424460 | AR | c.*561T>C (n.*561T>C) c.2213T>C (p.Ile738Thr) c.840T>C (n.840T>C) c.2173+5828T>C (n.2173+5828T>C) c.617T>C (p.Ile206Thr) c.1643T>C (p.Ile548Thr) | |
| X | g.67717517T>G | CA413424463 | AR | c.*561T>G (n.*561T>G) c.2213T>G (p.Ile738Ser) c.840T>G (n.840T>G) c.2173+5828T>G (n.2173+5828T>G) c.617T>G (p.Ile206Ser) c.1643T>G (p.Ile548Ser) | |
| X | g.67717517T= | CA2435132638 | AR | c.*561T= (n.*561T=) c.2213T= (p.Ile738=) c.840T= (n.840T=) c.2173+5828T= (n.2173+5828T=) c.617T= (p.Ile206=) c.1643T= (p.Ile548=) | |
| X | g.67717518T>A | CA516970349 | AR | c.*562T>A (n.*562T>A) c.2214T>A (p.Ile738=) c.841T>A (n.841T>A) c.2173+5829T>A (n.2173+5829T>A) c.618T>A (p.Ile206=) c.1644T>A (p.Ile548=) | |
| X | g.67717518T>C | CA516970350 | AR | c.*562T>C (n.*562T>C) c.2214T>C (p.Ile738=) c.841T>C (n.841T>C) c.2173+5829T>C (n.2173+5829T>C) c.618T>C (p.Ile206=) c.1644T>C (p.Ile548=) | |
| X | g.67717518T>G | CA413424465 | AR | c.*562T>G (n.*562T>G) c.2214T>G (p.Ile738Met) c.841T>G (n.841T>G) c.2173+5829T>G (n.2173+5829T>G) c.618T>G (p.Ile206Met) c.1644T>G (p.Ile548Met) | |
| X | g.67717519C>A | CA413424467 | AR | c.*563C>A (n.*563C>A) c.2215C>A (p.Gln739Lys) c.842C>A (n.842C>A) c.2173+5830C>A (n.2173+5830C>A) c.619C>A (p.Gln207Lys) c.1645C>A (p.Gln549Lys) | |
| X | g.67717519C>G | CA413424469 | AR | c.*563C>G (n.*563C>G) c.2215C>G (p.Gln739Glu) c.842C>G (n.842C>G) c.2173+5830C>G (n.2173+5830C>G) c.619C>G (p.Gln207Glu) c.1645C>G (p.Gln549Glu) | dbSNP |
| X | g.67717519C>T | CA413424471 | AR | c.*563C>T (n.*563C>T) c.2215C>T (p.Gln739Ter) c.842C>T (n.842C>T) c.2173+5830C>T (n.2173+5830C>T) c.619C>T (p.Gln207Ter) c.1645C>T (p.Gln549Ter) | dbSNP COSMIC COSMIC COSMIC |
| X | g.67717520A= | CA2435132639 | AR | c.*564A= (n.*564A=) c.2216A= (p.Gln739=) c.843A= (n.843A=) c.2173+5831A= (n.2173+5831A=) c.620A= (p.Gln207=) c.1646A= (p.Gln549=) | |
| X | g.67717520A>C | CA413424474 | AR | c.*564A>C (n.*564A>C) c.2216A>C (p.Gln739Pro) c.843A>C (n.843A>C) c.2173+5831A>C (n.2173+5831A>C) c.620A>C (p.Gln207Pro) c.1646A>C (p.Gln549Pro) | |
| X | g.67717520A>G | CA413424476 | AR | c.*564A>G (n.*564A>G) c.2216A>G (p.Gln739Arg) c.843A>G (n.843A>G) c.2173+5831A>G (n.2173+5831A>G) c.620A>G (p.Gln207Arg) c.1646A>G (p.Gln549Arg) | ClinVar dbSNP |
| X | g.67717520A>T | CA413424478 | AR | c.*564A>T (n.*564A>T) c.2216A>T (p.Gln739Leu) c.843A>T (n.843A>T) c.2173+5831A>T (n.2173+5831A>T) c.620A>T (p.Gln207Leu) c.1646A>T (p.Gln549Leu) | dbSNP |
| X | g.67717521G>A | CA516970351 | AR | c.*565G>A (n.*565G>A) c.2217G>A (p.Gln739=) c.844G>A (n.844G>A) c.2173+5832G>A (n.2173+5832G>A) c.621G>A (p.Gln207=) c.1647G>A (p.Gln549=) | dbSNP |
| X | g.67717521G>C | CA413424480 | AR | c.*565G>C (n.*565G>C) c.2217G>C (p.Gln739His) c.844G>C (n.844G>C) c.2173+5832G>C (n.2173+5832G>C) c.621G>C (p.Gln207His) c.1647G>C (p.Gln549His) | dbSNP |