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 |
|---|---|---|---|---|---|
| 22 | g.50625600T>A | CA412169906 | ARSA | c.1189A>T (p.Lys397Ter) c.931A>T (p.Lys311Ter) c.57A>T c.1108-136A>T (n.1108-136A>T) | |
| 22 | g.50625600T>C | CA412169909 | ARSA | c.1189A>G (p.Lys397Glu) c.931A>G (p.Lys311Glu) c.57A>G c.1108-136A>G (n.1108-136A>G) | COSMIC |
| 22 | g.50625600T>G | CA412169915 | ARSA | c.1189A>C (p.Lys397Gln) c.931A>C (p.Lys311Gln) c.57A>C c.1108-136A>C (n.1108-136A>C) | |
| 22 | g.50625601G>A | CA515248762 | ARSA | c.1188C>T (p.Tyr396=) c.930C>T (p.Tyr310=) c.56C>T c.1108-137C>T (n.1108-137C>T) | gnomAD v4 COSMIC |
| 22 | g.50625601G>C | CA412169935 | ARSA | c.1188C>G (p.Tyr396Ter) c.930C>G (p.Tyr310Ter) c.56C>G c.1108-137C>G (n.1108-137C>G) | |
| 22 | g.50625601G>T | CA412169922 | ARSA | c.1188C>A (p.Tyr396Ter) c.930C>A (p.Tyr310Ter) c.56C>A c.1108-137C>A (n.1108-137C>A) | |
| 22 | g.50625602T>A | CA412169939 | ARSA | c.1187A>T (p.Tyr396Phe) c.929A>T (p.Tyr310Phe) c.55A>T c.1108-138A>T (n.1108-138A>T) | |
| 22 | g.50625602T>C | CA412169940 | ARSA | c.1187A>G (p.Tyr396Cys) c.929A>G (p.Tyr310Cys) c.55A>G c.1108-138A>G (n.1108-138A>G) | gnomAD v4 |
| 22 | g.50625602T>G | CA412169942 | ARSA | c.1187A>C (p.Tyr396Ser) c.929A>C (p.Tyr310Ser) c.55A>C c.1108-138A>C (n.1108-138A>C) | ClinVar dbSNP |
| 22 | g.50625603A= | CA2410958575 | ARSA | c.1186T= (p.Tyr396=) c.928T= (p.Tyr310=) c.54T= c.1108-139T= (n.1108-139T=) | |
| 22 | g.50625603A>C | CA412169948 | ARSA | c.1186T>G (p.Tyr396Asp) c.928T>G (p.Tyr310Asp) c.54T>G c.1108-139T>G (n.1108-139T>G) | |
| 22 | g.50625603A>G | CA412169953 | ARSA | c.1186T>C (p.Tyr396His) c.928T>C (p.Tyr310His) c.54T>C c.1108-139T>C (n.1108-139T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625603A>T | CA412169955 | ARSA | c.1186T>A (p.Tyr396Asn) c.928T>A (p.Tyr310Asn) c.54T>A c.1108-139T>A (n.1108-139T>A) | |
| 22 | g.50625604C>A | CA412169966 | ARSA | c.1185G>T (p.Lys395Asn) c.927G>T (p.Lys309Asn) c.53G>T c.1108-140G>T (n.1108-140G>T) | |
| 22 | g.50625604C>G | CA412169962 | ARSA | c.1185G>C (p.Lys395Asn) c.927G>C (p.Lys309Asn) c.53G>C c.1108-140G>C (n.1108-140G>C) | gnomAD v4 |
| 22 | g.50625604C>T | CA515248763 | ARSA | c.1185G>A (p.Lys395=) c.927G>A (p.Lys309=) c.53G>A c.1108-140G>A (n.1108-140G>A) | |
| 22 | g.50625605T>A | CA412169983 | ARSA | c.1184A>T (p.Lys395Met) c.926A>T (p.Lys309Met) c.52A>T c.1108-141A>T (n.1108-141A>T) | |
| 22 | g.50625605T>C | CA412169984 | ARSA | c.1184A>G (p.Lys395Arg) c.926A>G (p.Lys309Arg) c.52A>G c.1108-141A>G (n.1108-141A>G) | |
| 22 | g.50625605T>G | CA412169988 | ARSA | c.1184A>C (p.Lys395Thr) c.926A>C (p.Lys309Thr) c.52A>C c.1108-141A>C (n.1108-141A>C) | |
| 22 | g.50625606T>A | CA412169992 | ARSA | c.1183A>T (p.Lys395Ter) c.925A>T (p.Lys309Ter) c.51A>T c.1108-142A>T (n.1108-142A>T) | |
| 22 | g.50625606T>C | CA412169994 | ARSA | c.1183A>G (p.Lys395Glu) c.925A>G (p.Lys309Glu) c.51A>G c.1108-142A>G (n.1108-142A>G) | |
| 22 | g.50625606T>G | CA412170000 | ARSA | c.1183A>C (p.Lys395Gln) c.925A>C (p.Lys309Gln) c.51A>C c.1108-142A>C (n.1108-142A>C) | |
| 22 | g.50625607T>A | CA515248764 | ARSA | c.1182A>T (p.Gly394=) c.924A>T (p.Gly308=) c.50A>T c.1108-143A>T (n.1108-143A>T) | |
| 22 | g.50625607T>C | CA515248766 | ARSA | c.1182A>G (p.Gly394=) c.924A>G (p.Gly308=) c.50A>G c.1108-143A>G (n.1108-143A>G) | |
| 22 | g.50625607T>G | CA515248765 | ARSA | c.1182A>C (p.Gly394=) c.924A>C (p.Gly308=) c.50A>C c.1108-143A>C (n.1108-143A>C) | ClinVar dbSNP |
| 22 | g.50625608C>A | CA412170004 | ARSA | c.1181G>T (p.Gly394Val) c.923G>T (p.Gly308Val) c.49G>T c.1108-144G>T (n.1108-144G>T) | |
| 22 | g.50625608C>G | CA412170008 | ARSA | c.1181G>C (p.Gly394Ala) c.923G>C (p.Gly308Ala) c.49G>C c.1108-144G>C (n.1108-144G>C) | |
| 22 | g.50625608C>T | CA412170006 | ARSA | c.1181G>A (p.Gly394Glu) c.923G>A (p.Gly308Glu) c.49G>A c.1108-144G>A (n.1108-144G>A) | ClinVar gnomAD v4 |
| 22 | g.50625609C>A | CA412170013 | ARSA | c.1180G>T (p.Gly394Ter) c.922G>T (p.Gly308Ter) c.48G>T c.1108-145G>T (n.1108-145G>T) | |
| 22 | g.50625609C= | CA2410958576 | ARSA | c.1180G= (p.Gly394=) c.922G= (p.Gly308=) c.48G= c.1108-145G= (n.1108-145G=) | |
| 22 | g.50625609C>G | CA412170019 | ARSA | c.1180G>C (p.Gly394Arg) c.922G>C (p.Gly308Arg) c.48G>C c.1108-145G>C (n.1108-145G>C) | |
| 22 | g.50625609C>T | CA10324800 | ARSA | c.1180G>A (p.Gly394Arg) c.922G>A (p.Gly308Arg) c.48G>A c.1108-145G>A (n.1108-145G>A) | dbSNP ExAC gnomAD v2 |
| 22 | g.50625610A>C | CA515248767 | ARSA | c.1179T>G (p.Thr393=) c.921T>G (p.Thr307=) c.47T>G c.1108-146T>G (n.1108-146T>G) | |
| 22 | g.50625610A>G | CA515248768 | ARSA | c.1179T>C (p.Thr393=) c.921T>C (p.Thr307=) c.47T>C c.1108-146T>C (n.1108-146T>C) | |
| 22 | g.50625610A>T | CA515248769 | ARSA | c.1179T>A (p.Thr393=) c.921T>A (p.Thr307=) c.47T>A c.1108-146T>A (n.1108-146T>A) | |
| 22 | g.50625611G>A | CA412170029 | ARSA | c.1178C>T (p.Thr393Ile) c.920C>T (p.Thr307Ile) c.46C>T c.1108-147C>T (n.1108-147C>T) | |
| 22 | g.50625611G>C | CA146668 | ARSA | c.1178C>G (p.Thr393Ser) c.920C>G (p.Thr307Ser) c.46C>G c.1108-147C>G (n.1108-147C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625611G= | CA2410958577 | ARSA | c.1178C= (p.Thr393=) c.920C= (p.Thr307=) c.46C= c.1108-147C= (n.1108-147C=) | |
| 22 | g.50625611G>T | CA412170043 | ARSA | c.1178C>A (p.Thr393Asn) c.920C>A (p.Thr307Asn) c.46C>A c.1108-147C>A (n.1108-147C>A) | |
| 22 | g.50625611_50625612delinsCC | CA913187457 | ARSA | c.1177_1178delinsGG (p.Thr393Gly) c.919_920delinsGG (p.Thr307Gly) c.45_46delinsGG c.1108-148_1108-147delinsGG (n.1108-148_1108-147delinsGG) | ClinVar dbSNP |
| 22 | g.50625612T>A | CA412170049 | ARSA | c.1177A>T (p.Thr393Ser) c.919A>T (p.Thr307Ser) c.45A>T c.1108-148A>T (n.1108-148A>T) | |
| 22 | g.50625612T>C | CA10324801 | ARSA | c.1177A>G (p.Thr393Ala) c.919A>G (p.Thr307Ala) c.45A>G c.1108-148A>G (n.1108-148A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625612T>G | CA412170050 | ARSA | c.1177A>C (p.Thr393Pro) c.919A>C (p.Thr307Pro) c.45A>C c.1108-148A>C (n.1108-148A>C) | |
| 22 | g.50625612T= | CA2410958578 | ARSA | c.1177A= (p.Thr393=) c.919A= (p.Thr307=) c.45A= c.1108-148A= (n.1108-148A=) | |
| 22 | g.50625613C>A | CA515248770 | ARSA | c.1176G>T (p.Arg392=) c.918G>T (p.Arg306=) c.44G>T c.1108-149G>T (n.1108-149G>T) | ClinVar |
| 22 | g.50625613C>G | CA515248771 | ARSA | c.1176G>C (p.Arg392=) c.918G>C (p.Arg306=) c.44G>C c.1108-149G>C (n.1108-149G>C) | |
| 22 | g.50625613C>T | CA515248772 | ARSA | c.1176G>A (p.Arg392=) c.918G>A (p.Arg306=) c.44G>A c.1108-149G>A (n.1108-149G>A) | ClinVar gnomAD v4 |
| 22 | g.50625614C>A | CA10324802 | ARSA | c.1175G>T (p.Arg392Leu) c.917G>T (p.Arg306Leu) c.43G>T c.1108-150G>T (n.1108-150G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50625614C= | CA2410958579 | ARSA | c.1175G= (p.Arg392=) c.917G= (p.Arg306=) c.43G= c.1108-150G= (n.1108-150G=) | |
| 22 | g.50625614C>G | CA412170057 | ARSA | c.1175G>C (p.Arg392Pro) c.917G>C (p.Arg306Pro) c.43G>C c.1108-150G>C (n.1108-150G>C) |