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.21575823_21575826dup | CA16040722 | ALPL | c.1088_1091dup (p.Ser364ArgfsTer?) n.357_360dup c.163_166dup c.857_860dup (p.Ser287ArgfsTer?) c.923_926dup (p.Ser309ArgfsTer?) c.932_935dup (p.Ser312ArgfsTer?) | ClinVar dbSNP |
| 1 | g.21575819G>A | CA338881197 | ALPL | c.1084G>A (p.Ala362Thr) n.353G>A c.159G>A c.853G>A (p.Ala285Thr) c.919G>A (p.Ala307Thr) c.928G>A (p.Ala310Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21575819G>C | CA338881198 | ALPL | c.1084G>C (p.Ala362Pro) n.353G>C c.159G>C c.853G>C (p.Ala285Pro) c.919G>C (p.Ala307Pro) c.928G>C (p.Ala310Pro) | |
| 1 | g.21575819G= | CA1158019309 | ALPL | c.1084G= (p.Ala362=) n.353G= c.159G= c.853G= (p.Ala285=) c.919G= (p.Ala307=) c.928G= (p.Ala310=) | |
| 1 | g.21575819G>T | CA338881199 | ALPL | c.1084G>T (p.Ala362Ser) n.353G>T c.159G>T c.853G>T (p.Ala285Ser) c.919G>T (p.Ala307Ser) c.928G>T (p.Ala310Ser) | gnomAD v4 |
| 1 | g.21575820C>A | CA338881200 | ALPL | c.1085C>A (p.Ala362Glu) n.354C>A c.160C>A c.854C>A (p.Ala285Glu) c.920C>A (p.Ala307Glu) c.929C>A (p.Ala310Glu) | |
| 1 | g.21575820C= | CA1158019310 | ALPL | c.1085C= (p.Ala362=) n.354C= c.160C= c.854C= (p.Ala285=) c.920C= (p.Ala307=) c.929C= (p.Ala310=) | |
| 1 | g.21575820C>G | CA338881201 | ALPL | c.1085C>G (p.Ala362Gly) n.354C>G c.160C>G c.854C>G (p.Ala285Gly) c.920C>G (p.Ala307Gly) c.929C>G (p.Ala310Gly) | dbSNP |
| 1 | g.21575820C>T | CA338881202 | ALPL | c.1085C>T (p.Ala362Val) n.354C>T c.160C>T c.854C>T (p.Ala285Val) c.920C>T (p.Ala307Val) c.929C>T (p.Ala310Val) | |
| 1 | g.21575821A>C | CA416533137 | ALPL | c.1086A>C (p.Ala362=) n.355A>C c.161A>C c.855A>C (p.Ala285=) c.921A>C (p.Ala307=) c.930A>C (p.Ala310=) | |
| 1 | g.21575821A>G | CA416533139 | ALPL | c.1086A>G (p.Ala362=) n.355A>G c.161A>G c.855A>G (p.Ala285=) c.921A>G (p.Ala307=) c.930A>G (p.Ala310=) | |
| 1 | g.21575821A>T | CA416533135 | ALPL | c.1086A>T (p.Ala362=) n.355A>T c.161A>T c.855A>T (p.Ala285=) c.921A>T (p.Ala307=) c.930A>T (p.Ala310=) | |
| 1 | g.21575822G>A | CA338881205 | ALPL | c.1087G>A (p.Gly363Ser) n.356G>A c.162G>A c.856G>A (p.Gly286Ser) c.922G>A (p.Gly308Ser) c.931G>A (p.Gly311Ser) | |
| 1 | g.21575822G>C | CA338881204 | ALPL | c.1087G>C (p.Gly363Arg) n.356G>C c.162G>C c.856G>C (p.Gly286Arg) c.922G>C (p.Gly308Arg) c.931G>C (p.Gly311Arg) | |
| 1 | g.21575822G>T | CA338881203 | ALPL | c.1087G>T (p.Gly363Cys) n.356G>T c.162G>T c.856G>T (p.Gly286Cys) c.922G>T (p.Gly308Cys) c.931G>T (p.Gly311Cys) | |
| 1 | g.21575823G>A | CA338881206 | ALPL | c.1088G>A (p.Gly363Asp) n.357G>A c.163G>A c.857G>A (p.Gly286Asp) c.923G>A (p.Gly308Asp) c.932G>A (p.Gly311Asp) | |
| 1 | g.21575823G>C | CA338881207 | ALPL | c.1088G>C (p.Gly363Ala) n.357G>C c.163G>C c.857G>C (p.Gly286Ala) c.923G>C (p.Gly308Ala) c.932G>C (p.Gly311Ala) | |
| 1 | g.21575823G>T | CA338881208 | ALPL | c.1088G>T (p.Gly363Val) n.357G>T c.163G>T c.857G>T (p.Gly286Val) c.923G>T (p.Gly308Val) c.932G>T (p.Gly311Val) | |
| 1 | g.21575824C>A | CA416533149 | ALPL | c.1089C>A (p.Gly363=) n.358C>A c.164C>A c.858C>A (p.Gly286=) c.924C>A (p.Gly308=) c.933C>A (p.Gly311=) | COSMIC |
| 1 | g.21575824C>G | CA416533152 | ALPL | c.1089C>G (p.Gly363=) n.358C>G c.164C>G c.858C>G (p.Gly286=) c.924C>G (p.Gly308=) c.933C>G (p.Gly311=) | |
| 1 | g.21575824C>T | CA416533153 | ALPL | c.1089C>T (p.Gly363=) n.358C>T c.164C>T c.858C>T (p.Gly286=) c.924C>T (p.Gly308=) c.933C>T (p.Gly311=) | ClinVar |
| 1 | g.21575825A>C | CA338881209 | ALPL | c.1090A>C (p.Ser364Arg) n.359A>C c.165A>C c.859A>C (p.Ser287Arg) c.925A>C (p.Ser309Arg) c.934A>C (p.Ser312Arg) | |
| 1 | g.21575825A>G | CA338881210 | ALPL | c.1090A>G (p.Ser364Gly) n.359A>G c.165A>G c.859A>G (p.Ser287Gly) c.925A>G (p.Ser309Gly) c.934A>G (p.Ser312Gly) | |
| 1 | g.21575825A>T | CA338881211 | ALPL | c.1090A>T (p.Ser364Cys) n.359A>T c.165A>T c.859A>T (p.Ser287Cys) c.925A>T (p.Ser309Cys) c.934A>T (p.Ser312Cys) | |
| 1 | g.21575826G>A | CA338881212 | ALPL | c.1091G>A (p.Ser364Asn) n.360G>A c.166G>A c.860G>A (p.Ser287Asn) c.926G>A (p.Ser309Asn) c.935G>A (p.Ser312Asn) | |
| 1 | g.21575826G>C | CA338881213 | ALPL | c.1091G>C (p.Ser364Thr) n.360G>C c.166G>C c.860G>C (p.Ser287Thr) c.926G>C (p.Ser309Thr) c.935G>C (p.Ser312Thr) | |
| 1 | g.21575826G>T | CA338881214 | ALPL | c.1091G>T (p.Ser364Ile) n.360G>T c.166G>T c.860G>T (p.Ser287Ile) c.926G>T (p.Ser309Ile) c.935G>T (p.Ser312Ile) | |
| 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=) |