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 |
|---|---|---|---|---|---|
| 3 | g.93893047T>A | CA434459819 | PROS1 | c.1041A>T (p.Ser347=) c.996A>T (p.Ser332=) n.1209A>T c.999A>T (p.Ser333=) c.1140A>T (n.1140A>T) c.1137A>T (p.Ser379=) c.648A>T (p.Ser216=) | |
| 3 | g.93893047T>C | CA2503285 | PROS1 | c.1041A>G (p.Ser347=) c.996A>G (p.Ser332=) n.1209A>G c.999A>G (p.Ser333=) c.1140A>G (n.1140A>G) c.1137A>G (p.Ser379=) c.648A>G (p.Ser216=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.93893047T>G | CA434459822 | PROS1 | c.1041A>C (p.Ser347=) c.996A>C (p.Ser332=) n.1209A>C c.999A>C (p.Ser333=) c.1140A>C (n.1140A>C) c.1137A>C (p.Ser379=) c.648A>C (p.Ser216=) | |
| 3 | g.93893047T= | CA1385036838 | PROS1 | c.1041A= (p.Ser347=) c.996A= (p.Ser332=) n.1209A= c.999A= (p.Ser333=) c.1140A= (n.1140A=) c.1137A= (p.Ser379=) c.648A= (p.Ser216=) | |
| 3 | g.93893048G>A | CA353672325 | PROS1 | c.1040C>T (p.Ser347Leu) c.995C>T (p.Ser332Leu) n.1208C>T c.998C>T (p.Ser333Leu) c.1139C>T (n.1139C>T) c.1136C>T (p.Ser379Leu) c.647C>T (p.Ser216Leu) | |
| 3 | g.93893048G>C | CA353672326 | PROS1 | c.1040C>G (p.Ser347Ter) c.995C>G (p.Ser332Ter) n.1208C>G c.998C>G (p.Ser333Ter) c.1139C>G (n.1139C>G) c.1136C>G (p.Ser379Ter) c.647C>G (p.Ser216Ter) | gnomAD v4 |
| 3 | g.93893048G>T | CA353672327 | PROS1 | c.1040C>A (p.Ser347Ter) c.995C>A (p.Ser332Ter) n.1208C>A c.998C>A (p.Ser333Ter) c.1139C>A (n.1139C>A) c.1136C>A (p.Ser379Ter) c.647C>A (p.Ser216Ter) | |
| 3 | g.93893049A>C | CA353672328 | PROS1 | c.1039T>G (p.Ser347Ala) c.994T>G (p.Ser332Ala) n.1207T>G c.997T>G (p.Ser333Ala) c.1138T>G (n.1138T>G) c.1135T>G (p.Ser379Ala) c.646T>G (p.Ser216Ala) | |
| 3 | g.93893049A>G | CA353672329 | PROS1 | c.1039T>C (p.Ser347Pro) c.994T>C (p.Ser332Pro) n.1207T>C c.997T>C (p.Ser333Pro) c.1138T>C (n.1138T>C) c.1135T>C (p.Ser379Pro) c.646T>C (p.Ser216Pro) | |
| 3 | g.93893049A>T | CA353672330 | PROS1 | c.1039T>A (p.Ser347Thr) c.994T>A (p.Ser332Thr) n.1207T>A c.997T>A (p.Ser333Thr) c.1138T>A (n.1138T>A) c.1135T>A (p.Ser379Thr) c.646T>A (p.Ser216Thr) | |
| 3 | g.93893050G>A | CA434459834 | PROS1 | c.1038C>T (p.His346=) c.993C>T (p.His331=) n.1206C>T c.996C>T (p.His332=) c.1137C>T (n.1137C>T) c.1134C>T (p.His378=) c.645C>T (p.His215=) | |
| 3 | g.93893050G>C | CA353672331 | PROS1 | c.1038C>G (p.His346Gln) c.993C>G (p.His331Gln) n.1206C>G c.996C>G (p.His332Gln) c.1137C>G (n.1137C>G) c.1134C>G (p.His378Gln) c.645C>G (p.His215Gln) | |
| 3 | g.93893050G>T | CA353672332 | PROS1 | c.1038C>A (p.His346Gln) c.993C>A (p.His331Gln) n.1206C>A c.996C>A (p.His332Gln) c.1137C>A (n.1137C>A) c.1134C>A (p.His378Gln) c.645C>A (p.His215Gln) | |
| 3 | g.93893051T>A | CA353672333 | PROS1 | c.1037A>T (p.His346Leu) c.992A>T (p.His331Leu) n.1205A>T c.995A>T (p.His332Leu) c.1136A>T (n.1136A>T) c.1133A>T (p.His378Leu) c.644A>T (p.His215Leu) | |
| 3 | g.93893051T>C | CA353672334 | PROS1 | c.1037A>G (p.His346Arg) c.992A>G (p.His331Arg) n.1205A>G c.995A>G (p.His332Arg) c.1136A>G (n.1136A>G) c.1133A>G (p.His378Arg) c.644A>G (p.His215Arg) | gnomAD v4 COSMIC |
| 3 | g.93893051T>G | CA353672335 | PROS1 | c.1037A>C (p.His346Pro) c.992A>C (p.His331Pro) n.1205A>C c.995A>C (p.His332Pro) c.1136A>C (n.1136A>C) c.1133A>C (p.His378Pro) c.644A>C (p.His215Pro) | |
| 3 | g.93893052G>A | CA353672337 | PROS1 | c.1036C>T (p.His346Tyr) c.991C>T (p.His331Tyr) n.1204C>T c.994C>T (p.His332Tyr) c.1135C>T (n.1135C>T) c.1132C>T (p.His378Tyr) c.643C>T (p.His215Tyr) | |
| 3 | g.93893052G>C | CA353672338 | PROS1 | c.1036C>G (p.His346Asp) c.991C>G (p.His331Asp) n.1204C>G c.994C>G (p.His332Asp) c.1135C>G (n.1135C>G) c.1132C>G (p.His378Asp) c.643C>G (p.His215Asp) | |
| 3 | g.93893052G= | CA1385036839 | PROS1 | c.1036C= (p.His346=) c.991C= (p.His331=) n.1204C= c.994C= (p.His332=) c.1135C= (n.1135C=) c.1132C= (p.His378=) c.643C= (p.His215=) | |
| 3 | g.93893052G>T | CA353672336 | PROS1 | c.1036C>A (p.His346Asn) c.991C>A (p.His331Asn) n.1204C>A c.994C>A (p.His332Asn) c.1135C>A (n.1135C>A) c.1132C>A (p.His378Asn) c.643C>A (p.His215Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.93893053A>C | CA353672339 | PROS1 | c.1035T>G (p.Asp345Glu) c.990T>G (p.Asp330Glu) n.1203T>G c.993T>G (p.Asp331Glu) c.1134T>G (n.1134T>G) c.1131T>G (p.Asp377Glu) c.642T>G (p.Asp214Glu) | |
| 3 | g.93893053A>G | CA434459847 | PROS1 | c.1035T>C (p.Asp345=) c.990T>C (p.Asp330=) n.1203T>C c.993T>C (p.Asp331=) c.1134T>C (n.1134T>C) c.1131T>C (p.Asp377=) c.642T>C (p.Asp214=) | |
| 3 | g.93893053A>T | CA353672340 | PROS1 | c.1035T>A (p.Asp345Glu) c.990T>A (p.Asp330Glu) n.1203T>A c.993T>A (p.Asp331Glu) c.1134T>A (n.1134T>A) c.1131T>A (p.Asp377Glu) c.642T>A (p.Asp214Glu) | |
| 3 | g.93893054T>A | CA353672341 | PROS1 | c.1034A>T (p.Asp345Val) c.989A>T (p.Asp330Val) n.1202A>T c.992A>T (p.Asp331Val) c.1133A>T (n.1133A>T) c.1130A>T (p.Asp377Val) c.641A>T (p.Asp214Val) | |
| 3 | g.93893054T>C | CA353672342 | PROS1 | c.1034A>G (p.Asp345Gly) c.989A>G (p.Asp330Gly) n.1202A>G c.992A>G (p.Asp331Gly) c.1133A>G (n.1133A>G) c.1130A>G (p.Asp377Gly) c.641A>G (p.Asp214Gly) | gnomAD v4 |
| 3 | g.93893054T>G | CA353672343 | PROS1 | c.1034A>C (p.Asp345Ala) c.989A>C (p.Asp330Ala) n.1202A>C c.992A>C (p.Asp331Ala) c.1133A>C (n.1133A>C) c.1130A>C (p.Asp377Ala) c.641A>C (p.Asp214Ala) | |
| 3 | g.93893055C>A | CA78482402 | PROS1 | c.1033G>T (p.Asp345Tyr) c.988G>T (p.Asp330Tyr) n.1201G>T c.991G>T (p.Asp331Tyr) c.1132G>T (n.1132G>T) c.1129G>T (p.Asp377Tyr) c.640G>T (p.Asp214Tyr) | dbSNP |
| 3 | g.93893055C= | CA1385036840 | PROS1 | c.1033G= (p.Asp345=) c.988G= (p.Asp330=) n.1201G= c.991G= (p.Asp331=) c.1132G= (n.1132G=) c.1129G= (p.Asp377=) c.640G= (p.Asp214=) | |
| 3 | g.93893055C>G | CA353672344 | PROS1 | c.1033G>C (p.Asp345His) c.988G>C (p.Asp330His) n.1201G>C c.991G>C (p.Asp331His) c.1132G>C (n.1132G>C) c.1129G>C (p.Asp377His) c.640G>C (p.Asp214His) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.93893055C>T | CA2503286 | PROS1 | c.1033G>A (p.Asp345Asn) c.988G>A (p.Asp330Asn) n.1201G>A c.991G>A (p.Asp331Asn) c.1132G>A (n.1132G>A) c.1129G>A (p.Asp377Asn) c.640G>A (p.Asp214Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.93893056G>A | CA2503287 | PROS1 | c.1032C>T (p.Ile344=) c.987C>T (p.Ile329=) n.1200C>T c.990C>T (p.Ile330=) c.1131C>T (n.1131C>T) c.1128C>T (p.Ile376=) c.639C>T (p.Ile213=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.93893056G>C | CA353672345 | PROS1 | c.1032C>G (p.Ile344Met) c.987C>G (p.Ile329Met) n.1200C>G c.990C>G (p.Ile330Met) c.1131C>G (n.1131C>G) c.1128C>G (p.Ile376Met) c.639C>G (p.Ile213Met) | |
| 3 | g.93893056G= | CA1385036841 | PROS1 | c.1032C= (p.Ile344=) c.987C= (p.Ile329=) n.1200C= c.990C= (p.Ile330=) c.1131C= (n.1131C=) c.1128C= (p.Ile376=) c.639C= (p.Ile213=) | |
| 3 | g.93893056G>T | CA434459859 | PROS1 | c.1032C>A (p.Ile344=) c.987C>A (p.Ile329=) n.1200C>A c.990C>A (p.Ile330=) c.1131C>A (n.1131C>A) c.1128C>A (p.Ile376=) c.639C>A (p.Ile213=) | gnomAD v4 |
| 3 | g.93893057A= | CA1385036842 | PROS1 | c.1031T= (p.Ile344=) c.986T= (p.Ile329=) n.1199T= c.989T= (p.Ile330=) c.1130T= (n.1130T=) c.1127T= (p.Ile376=) c.638T= (p.Ile213=) | |
| 3 | g.93893057A>C | CA353672346 | PROS1 | c.1031T>G (p.Ile344Ser) c.986T>G (p.Ile329Ser) n.1199T>G c.989T>G (p.Ile330Ser) c.1130T>G (n.1130T>G) c.1127T>G (p.Ile376Ser) c.638T>G (p.Ile213Ser) | dbSNP |
| 3 | g.93893057A>G | CA353672347 | PROS1 | c.1031T>C (p.Ile344Thr) c.986T>C (p.Ile329Thr) n.1199T>C c.989T>C (p.Ile330Thr) c.1130T>C (n.1130T>C) c.1127T>C (p.Ile376Thr) c.638T>C (p.Ile213Thr) | |
| 3 | g.93893057A>T | CA78482417 | PROS1 | c.1031T>A (p.Ile344Asn) c.986T>A (p.Ile329Asn) n.1199T>A c.989T>A (p.Ile330Asn) c.1130T>A (n.1130T>A) c.1127T>A (p.Ile376Asn) c.638T>A (p.Ile213Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.93893058T>A | CA2503288 | PROS1 | c.1030A>T (p.Ile344Phe) c.985A>T (p.Ile329Phe) n.1198A>T c.988A>T (p.Ile330Phe) c.1129A>T (n.1129A>T) c.1126A>T (p.Ile376Phe) c.637A>T (p.Ile213Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.93893058T>C | CA353672349 | PROS1 | c.1030A>G (p.Ile344Val) c.985A>G (p.Ile329Val) n.1198A>G c.988A>G (p.Ile330Val) c.1129A>G (n.1129A>G) c.1126A>G (p.Ile376Val) c.637A>G (p.Ile213Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.93893058T>G | CA353672348 | PROS1 | c.1030A>C (p.Ile344Leu) c.985A>C (p.Ile329Leu) n.1198A>C c.988A>C (p.Ile330Leu) c.1129A>C (n.1129A>C) c.1126A>C (p.Ile376Leu) c.637A>C (p.Ile213Leu) | |
| 3 | g.93893058T= | CA1385036843 | PROS1 | c.1030A= (p.Ile344=) c.985A= (p.Ile329=) n.1198A= c.988A= (p.Ile330=) c.1129A= (n.1129A=) c.1126A= (p.Ile376=) c.637A= (p.Ile213=) | |
| 3 | g.93893059A>C | CA434459871 | PROS1 | c.1029T>G (p.Ser343=) c.984T>G (p.Ser328=) n.1197T>G c.987T>G (p.Ser329=) c.1128T>G (n.1128T>G) c.1125T>G (p.Ser375=) c.636T>G (p.Ser212=) | |
| 3 | g.93893059A>G | CA434459872 | PROS1 | c.1029T>C (p.Ser343=) c.984T>C (p.Ser328=) n.1197T>C c.987T>C (p.Ser329=) c.1128T>C (n.1128T>C) c.1125T>C (p.Ser375=) c.636T>C (p.Ser212=) | |
| 3 | g.93893059A>T | CA434459875 | PROS1 | c.1029T>A (p.Ser343=) c.984T>A (p.Ser328=) n.1197T>A c.987T>A (p.Ser329=) c.1128T>A (n.1128T>A) c.1125T>A (p.Ser375=) c.636T>A (p.Ser212=) | gnomAD v4 |
| 3 | g.93893060G>A | CA353672350 | PROS1 | c.1028C>T (p.Ser343Phe) c.983C>T (p.Ser328Phe) n.1196C>T c.986C>T (p.Ser329Phe) c.1127C>T (n.1127C>T) c.1124C>T (p.Ser375Phe) c.635C>T (p.Ser212Phe) | |
| 3 | g.93893060G>C | CA353672351 | PROS1 | c.1028C>G (p.Ser343Cys) c.983C>G (p.Ser328Cys) n.1196C>G c.986C>G (p.Ser329Cys) c.1127C>G (n.1127C>G) c.1124C>G (p.Ser375Cys) c.635C>G (p.Ser212Cys) | |
| 3 | g.93893060G>T | CA353672352 | PROS1 | c.1028C>A (p.Ser343Tyr) c.983C>A (p.Ser328Tyr) n.1196C>A c.986C>A (p.Ser329Tyr) c.1127C>A (n.1127C>A) c.1124C>A (p.Ser375Tyr) c.635C>A (p.Ser212Tyr) | gnomAD v4 |
| 3 | g.93893061A>C | CA353672353 | PROS1 | c.1027T>G (p.Ser343Ala) c.982T>G (p.Ser328Ala) n.1195T>G c.985T>G (p.Ser329Ala) c.1126T>G (n.1126T>G) c.1123T>G (p.Ser375Ala) c.634T>G (p.Ser212Ala) | |
| 3 | g.93893061A>G | CA353672354 | PROS1 | c.1027T>C (p.Ser343Pro) c.982T>C (p.Ser328Pro) n.1195T>C c.985T>C (p.Ser329Pro) c.1126T>C (n.1126T>C) c.1123T>C (p.Ser375Pro) c.634T>C (p.Ser212Pro) |