WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21575827C>A | CA338881215 | ALPL | c.1092C>A (p.Ser364Arg) n.361C>A c.167C>A c.861C>A (p.Ser287Arg) c.927C>A (p.Ser309Arg) c.936C>A (p.Ser312Arg) | |
| 1 | g.21575827C= | CA1158019311 | ALPL | c.1092C= (p.Ser364=) n.361C= c.167C= c.861C= (p.Ser287=) c.927C= (p.Ser309=) c.936C= (p.Ser312=) | |
| 1 | g.21575827C>G | CA338881216 | ALPL | c.1092C>G (p.Ser364Arg) n.361C>G c.167C>G c.861C>G (p.Ser287Arg) c.927C>G (p.Ser309Arg) c.936C>G (p.Ser312Arg) | |
| 1 | g.21575827C>T | CA416533168 | ALPL | c.1092C>T (p.Ser364=) n.361C>T c.167C>T c.861C>T (p.Ser287=) c.927C>T (p.Ser309=) c.936C>T (p.Ser312=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.21575828T>A | CA338881218 | ALPL | c.1093T>A (p.Leu365Met) n.362T>A c.168T>A c.862T>A (p.Leu288Met) c.928T>A (p.Leu310Met) c.937T>A (p.Leu313Met) | |
| 1 | g.21575828T>C | CA416533173 | ALPL | c.1093T>C (p.Leu365=) n.362T>C c.168T>C c.862T>C (p.Leu288=) c.928T>C (p.Leu310=) c.937T>C (p.Leu313=) | dbSNP |
| 1 | g.21575828T>G | CA338881217 | ALPL | c.1093T>G (p.Leu365Val) n.362T>G c.168T>G c.862T>G (p.Leu288Val) c.928T>G (p.Leu310Val) c.937T>G (p.Leu313Val) | |
| 1 | g.21575829T>A | CA338881219 | ALPL | c.1094T>A (p.Leu365Ter) n.363T>A c.169T>A c.863T>A (p.Leu288Ter) c.929T>A (p.Leu310Ter) c.938T>A (p.Leu313Ter) | |
| 1 | g.21575829T>C | CA338881221 | ALPL | c.1094T>C (p.Leu365Ser) n.363T>C c.169T>C c.863T>C (p.Leu288Ser) c.929T>C (p.Leu310Ser) c.938T>C (p.Leu313Ser) | |
| 1 | g.21575829T>G | CA338881220 | ALPL | c.1094T>G (p.Leu365Trp) n.363T>G c.169T>G c.863T>G (p.Leu288Trp) c.929T>G (p.Leu310Trp) c.938T>G (p.Leu313Trp) | ClinVar dbSNP |
| 1 | g.21575830G>A | CA416533175 | ALPL | c.1095G>A (p.Leu365=) n.364G>A c.170G>A c.864G>A (p.Leu288=) c.930G>A (p.Leu310=) c.939G>A (p.Leu313=) | |
| 1 | g.21575830G>C | CA338881222 | ALPL | c.1095G>C (p.Leu365Phe) n.364G>C c.170G>C c.864G>C (p.Leu288Phe) c.930G>C (p.Leu310Phe) c.939G>C (p.Leu313Phe) | |
| 1 | g.21575830G>T | CA338881223 | ALPL | c.1095G>T (p.Leu365Phe) n.364G>T c.170G>T c.864G>T (p.Leu288Phe) c.930G>T (p.Leu310Phe) c.939G>T (p.Leu313Phe) | |
| 1 | g.21575831A>C | CA338881224 | ALPL | c.1096A>C (p.Thr366Pro) n.365A>C c.171A>C c.865A>C (p.Thr289Pro) c.931A>C (p.Thr311Pro) c.940A>C (p.Thr314Pro) | |
| 1 | g.21575831A>G | CA338881225 | ALPL | c.1096A>G (p.Thr366Ala) n.365A>G c.171A>G c.865A>G (p.Thr289Ala) c.931A>G (p.Thr311Ala) c.940A>G (p.Thr314Ala) | |
| 1 | g.21575831A>T | CA338881226 | ALPL | c.1096A>T (p.Thr366Ser) n.365A>T c.171A>T c.865A>T (p.Thr289Ser) c.931A>T (p.Thr311Ser) c.940A>T (p.Thr314Ser) | |
| 1 | g.21575831_21575834delinsACCT | CA1158019312 | ALPL | c.1096_1099delinsACCT (p.Thr366=) n.365_368delinsACCT c.171_174delinsACCT c.865_868delinsACCT (p.Thr289=) c.931_934delinsACCT (p.Thr311=) c.940_943delinsACCT (p.Thr314=) | |
| 1 | g.21575832C>A | CA338881227 | ALPL | c.1097C>A (p.Thr366Asn) n.366C>A c.172C>A c.866C>A (p.Thr289Asn) c.932C>A (p.Thr311Asn) c.941C>A (p.Thr314Asn) | |
| 1 | g.21575832C>G | CA338881228 | ALPL | c.1097C>G (p.Thr366Ser) n.366C>G c.172C>G c.866C>G (p.Thr289Ser) c.932C>G (p.Thr311Ser) c.941C>G (p.Thr314Ser) | |
| 1 | g.21575832C>T | CA338881229 | ALPL | c.1097C>T (p.Thr366Ile) n.366C>T c.172C>T c.866C>T (p.Thr289Ile) c.932C>T (p.Thr311Ile) c.941C>T (p.Thr314Ile) | ClinVar gnomAD v4 |
| 1 | g.21575836_21575838del | CA891842433 | ALPL | c.1101_1103del (p.Ser368del) n.370_372del c.176_178del c.870_872del (p.Ser291del) c.936_938del (p.Ser313del) c.945_947del (p.Ser316del) | ClinVar dbSNP gnomAD v4 |
| 1 | g.21575833C>A | CA416533191 | ALPL | c.1098C>A (p.Thr366=) n.367C>A c.173C>A c.867C>A (p.Thr289=) c.933C>A (p.Thr311=) c.942C>A (p.Thr314=) | |
| 1 | g.21575833C= | CA1158019313 | ALPL | c.1098C= (p.Thr366=) n.367C= c.173C= c.867C= (p.Thr289=) c.933C= (p.Thr311=) c.942C= (p.Thr314=) | |
| 1 | g.21575833C>G | CA416533187 | ALPL | c.1098C>G (p.Thr366=) n.367C>G c.173C>G c.867C>G (p.Thr289=) c.933C>G (p.Thr311=) c.942C>G (p.Thr314=) | ClinVar dbSNP COSMIC |
| 1 | g.21575833C>T | CA416533189 | ALPL | c.1098C>T (p.Thr366=) n.367C>T c.173C>T c.867C>T (p.Thr289=) c.933C>T (p.Thr311=) c.942C>T (p.Thr314=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21575834T>A | CA338881230 | ALPL | c.1099T>A (p.Ser367Thr) n.368T>A c.174T>A c.868T>A (p.Ser290Thr) c.934T>A (p.Ser312Thr) c.943T>A (p.Ser315Thr) | ClinVar |
| 1 | g.21575834T>C | CA338881231 | ALPL | c.1099T>C (p.Ser367Pro) n.368T>C c.174T>C c.868T>C (p.Ser290Pro) c.934T>C (p.Ser312Pro) c.943T>C (p.Ser315Pro) | |
| 1 | g.21575834T>G | CA338881232 | ALPL | c.1099T>G (p.Ser367Ala) n.368T>G c.174T>G c.868T>G (p.Ser290Ala) c.934T>G (p.Ser312Ala) c.943T>G (p.Ser315Ala) | |
| 1 | g.21575835C>A | CA338881235 | ALPL | c.1100C>A (p.Ser367Tyr) n.369C>A c.175C>A c.869C>A (p.Ser290Tyr) c.935C>A (p.Ser312Tyr) c.944C>A (p.Ser315Tyr) | |
| 1 | g.21575835C= | CA1158019314 | ALPL | c.1100C= (p.Ser367=) n.369C= c.175C= c.869C= (p.Ser290=) c.935C= (p.Ser312=) c.944C= (p.Ser315=) | |
| 1 | g.21575835C>G | CA338881233 | ALPL | c.1100C>G (p.Ser367Cys) n.369C>G c.175C>G c.869C>G (p.Ser290Cys) c.935C>G (p.Ser312Cys) c.944C>G (p.Ser315Cys) | |
| 1 | g.21575835C>T | CA338881234 | ALPL | c.1100C>T (p.Ser367Phe) n.369C>T c.175C>T c.869C>T (p.Ser290Phe) c.935C>T (p.Ser312Phe) c.944C>T (p.Ser315Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21575836C>A | CA416533200 | ALPL | c.1101C>A (p.Ser367=) n.370C>A c.176C>A c.870C>A (p.Ser290=) c.936C>A (p.Ser312=) c.945C>A (p.Ser315=) | COSMIC |
| 1 | g.21575836C= | CA1158019315 | ALPL | c.1101C= (p.Ser367=) n.370C= c.176C= c.870C= (p.Ser290=) c.936C= (p.Ser312=) c.945C= (p.Ser315=) | |
| 1 | g.21575836C>G | CA416533203 | ALPL | c.1101C>G (p.Ser367=) n.370C>G c.176C>G c.870C>G (p.Ser290=) c.936C>G (p.Ser312=) c.945C>G (p.Ser315=) | |
| 1 | g.21575836C>T | CA666731 | ALPL | c.1101C>T (p.Ser367=) n.370C>T c.176C>T c.870C>T (p.Ser290=) c.936C>T (p.Ser312=) c.945C>T (p.Ser315=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21575837T>A | CA338881236 | ALPL | c.1102T>A (p.Ser368Thr) n.371T>A c.177T>A c.871T>A (p.Ser291Thr) c.937T>A (p.Ser313Thr) c.946T>A (p.Ser316Thr) | |
| 1 | g.21575837T>C | CA338881237 | ALPL | c.1102T>C (p.Ser368Pro) n.371T>C c.177T>C c.871T>C (p.Ser291Pro) c.937T>C (p.Ser313Pro) c.946T>C (p.Ser316Pro) | |
| 1 | g.21575837T>G | CA338881238 | ALPL | c.1102T>G (p.Ser368Ala) n.371T>G c.177T>G c.871T>G (p.Ser291Ala) c.937T>G (p.Ser313Ala) c.946T>G (p.Ser316Ala) | |
| 1 | g.21575838C>A | CA338881239 | ALPL | c.1103C>A (p.Ser368Ter) n.372C>A c.178C>A c.872C>A (p.Ser291Ter) c.938C>A (p.Ser313Ter) c.947C>A (p.Ser316Ter) | |
| 1 | g.21575838C= | CA1143621752 | ALPL | c.1103C= (p.Ser368=) n.372C= c.178C= c.872C= (p.Ser291=) c.938C= (p.Ser313=) c.947C= (p.Ser316=) | |
| 1 | g.21575838C>G | CA338881241 | ALPL | c.1103C>G (p.Ser368Trp) n.372C>G c.178C>G c.872C>G (p.Ser291Trp) c.938C>G (p.Ser313Trp) c.947C>G (p.Ser316Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21575838C>T | CA666732 | ALPL | c.1103C>T (p.Ser368Leu) n.372C>T c.178C>T c.872C>T (p.Ser291Leu) c.938C>T (p.Ser313Leu) c.947C>T (p.Ser316Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21575839G>A | CA416533214 | ALPL | c.1104G>A (p.Ser368=) n.373G>A c.179G>A c.873G>A (p.Ser291=) c.939G>A (p.Ser313=) c.948G>A (p.Ser316=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.21575839G>C | CA416533220 | ALPL | c.1104G>C (p.Ser368=) n.373G>C c.179G>C c.873G>C (p.Ser291=) c.939G>C (p.Ser313=) c.948G>C (p.Ser316=) | |
| 1 | g.21575839G= | CA1158019316 | ALPL | c.1104G= (p.Ser368=) n.373G= c.179G= c.873G= (p.Ser291=) c.939G= (p.Ser313=) c.948G= (p.Ser316=) | |
| 1 | g.21575839G>T | CA416533211 | ALPL | c.1104G>T (p.Ser368=) n.373G>T c.179G>T c.873G>T (p.Ser291=) c.939G>T (p.Ser313=) c.948G>T (p.Ser316=) | ClinVar |
| 1 | g.21575840G>A | CA338881244 | ALPL | c.1105G>A (p.Glu369Lys) n.374G>A c.180G>A c.874G>A (p.Glu292Lys) c.940G>A (p.Glu314Lys) c.949G>A (p.Glu317Lys) | |
| 1 | g.21575840G>C | CA338881245 | ALPL | c.1105G>C (p.Glu369Gln) n.374G>C c.180G>C c.874G>C (p.Glu292Gln) c.940G>C (p.Glu314Gln) c.949G>C (p.Glu317Gln) | |
| 1 | g.21575840G>T | CA338881247 | ALPL | c.1105G>T (p.Glu369Ter) n.374G>T c.180G>T c.874G>T (p.Glu292Ter) c.940G>T (p.Glu314Ter) c.949G>T (p.Glu317Ter) |