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 |
|---|---|---|---|---|---|
| 12 | g.66541827C>A | CA385680159 | GRIP1 | c.485G>T (p.Gly162Val) c.260G>T (p.Gly87Val) c.92G>T (p.Gly31Val) c.338G>T (p.Gly113Val) c.179G>T (p.Gly60Val) c.263G>T (p.Gly88Val) c.182G>T (p.Gly61Val) | |
| 12 | g.66541827C= | CA2043081292 | GRIP1 | c.485G= (p.Gly162=) c.260G= (p.Gly87=) c.92G= (p.Gly31=) c.338G= (p.Gly113=) c.179G= (p.Gly60=) c.263G= (p.Gly88=) c.182G= (p.Gly61=) | |
| 12 | g.66541827C>G | CA385680160 | GRIP1 | c.485G>C (p.Gly162Ala) c.260G>C (p.Gly87Ala) c.92G>C (p.Gly31Ala) c.338G>C (p.Gly113Ala) c.179G>C (p.Gly60Ala) c.263G>C (p.Gly88Ala) c.182G>C (p.Gly61Ala) | |
| 12 | g.66541827C>T | CA385680161 | GRIP1 | c.485G>A (p.Gly162Glu) c.260G>A (p.Gly87Glu) c.92G>A (p.Gly31Glu) c.338G>A (p.Gly113Glu) c.179G>A (p.Gly60Glu) c.263G>A (p.Gly88Glu) c.182G>A (p.Gly61Glu) | dbSNP COSMIC COSMIC |
| 12 | g.66541828C>A | CA385680164 | GRIP1 | c.484G>T (p.Gly162Ter) c.259G>T (p.Gly87Ter) c.91G>T (p.Gly31Ter) c.337G>T (p.Gly113Ter) c.178G>T (p.Gly60Ter) c.262G>T (p.Gly88Ter) c.181G>T (p.Gly61Ter) | |
| 12 | g.66541828C= | CA2043081293 | GRIP1 | c.484G= (p.Gly162=) c.259G= (p.Gly87=) c.91G= (p.Gly31=) c.337G= (p.Gly113=) c.178G= (p.Gly60=) c.262G= (p.Gly88=) c.181G= (p.Gly61=) | |
| 12 | g.66541828C>G | CA385680163 | GRIP1 | c.484G>C (p.Gly162Arg) c.259G>C (p.Gly87Arg) c.91G>C (p.Gly31Arg) c.337G>C (p.Gly113Arg) c.178G>C (p.Gly60Arg) c.262G>C (p.Gly88Arg) c.181G>C (p.Gly61Arg) | |
| 12 | g.66541828C>T | CA385680162 | GRIP1 | c.484G>A (p.Gly162Arg) c.259G>A (p.Gly87Arg) c.91G>A (p.Gly31Arg) c.337G>A (p.Gly113Arg) c.178G>A (p.Gly60Arg) c.262G>A (p.Gly88Arg) c.181G>A (p.Gly61Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.66541829T>A | CA480703127 | GRIP1 | c.483A>T (p.Gly161=) c.258A>T (p.Gly86=) c.90A>T (p.Gly30=) c.336A>T (p.Gly112=) c.177A>T (p.Gly59=) c.261A>T (p.Gly87=) c.180A>T (p.Gly60=) | |
| 12 | g.66541829T>C | CA480703129 | GRIP1 | c.483A>G (p.Gly161=) c.258A>G (p.Gly86=) c.90A>G (p.Gly30=) c.336A>G (p.Gly112=) c.177A>G (p.Gly59=) c.261A>G (p.Gly87=) c.180A>G (p.Gly60=) | |
| 12 | g.66541829T>G | CA480703128 | GRIP1 | c.483A>C (p.Gly161=) c.258A>C (p.Gly86=) c.90A>C (p.Gly30=) c.336A>C (p.Gly112=) c.177A>C (p.Gly59=) c.261A>C (p.Gly87=) c.180A>C (p.Gly60=) | gnomAD v4 |
| 12 | g.66541830C>A | CA385680165 | GRIP1 | c.482G>T (p.Gly161Val) c.257G>T (p.Gly86Val) c.89G>T (p.Gly30Val) c.335G>T (p.Gly112Val) c.176G>T (p.Gly59Val) c.260G>T (p.Gly87Val) c.179G>T (p.Gly60Val) | |
| 12 | g.66541830C>G | CA385680166 | GRIP1 | c.482G>C (p.Gly161Ala) c.257G>C (p.Gly86Ala) c.89G>C (p.Gly30Ala) c.335G>C (p.Gly112Ala) c.176G>C (p.Gly59Ala) c.260G>C (p.Gly87Ala) c.179G>C (p.Gly60Ala) | |
| 12 | g.66541830C>T | CA385680167 | GRIP1 | c.482G>A (p.Gly161Glu) c.257G>A (p.Gly86Glu) c.89G>A (p.Gly30Glu) c.335G>A (p.Gly112Glu) c.176G>A (p.Gly59Glu) c.260G>A (p.Gly87Glu) c.179G>A (p.Gly60Glu) | gnomAD v4 |
| 12 | g.66541831C>A | CA385680168 | GRIP1 | c.481G>T (p.Gly161Ter) c.256G>T (p.Gly86Ter) c.88G>T (p.Gly30Ter) c.334G>T (p.Gly112Ter) c.175G>T (p.Gly59Ter) c.259G>T (p.Gly87Ter) c.178G>T (p.Gly60Ter) | |
| 12 | g.66541831C>G | CA385680169 | GRIP1 | c.481G>C (p.Gly161Arg) c.256G>C (p.Gly86Arg) c.88G>C (p.Gly30Arg) c.334G>C (p.Gly112Arg) c.175G>C (p.Gly59Arg) c.259G>C (p.Gly87Arg) c.178G>C (p.Gly60Arg) | |
| 12 | g.66541831C>T | CA385680170 | GRIP1 | c.481G>A (p.Gly161Arg) c.256G>A (p.Gly86Arg) c.88G>A (p.Gly30Arg) c.334G>A (p.Gly112Arg) c.175G>A (p.Gly59Arg) c.259G>A (p.Gly87Arg) c.178G>A (p.Gly60Arg) | |
| 12 | g.66541832T>A | CA385680171 | GRIP1 | c.480A>T (p.Gln160His) c.255A>T (p.Gln85His) c.87A>T (p.Gln29His) c.333A>T (p.Gln111His) c.174A>T (p.Gln58His) c.258A>T (p.Gln86His) c.177A>T (p.Gln59His) | |
| 12 | g.66541832T>C | CA480703130 | GRIP1 | c.480A>G (p.Gln160=) c.255A>G (p.Gln85=) c.87A>G (p.Gln29=) c.333A>G (p.Gln111=) c.174A>G (p.Gln58=) c.258A>G (p.Gln86=) c.177A>G (p.Gln59=) | |
| 12 | g.66541832T>G | CA385680172 | GRIP1 | c.480A>C (p.Gln160His) c.255A>C (p.Gln85His) c.87A>C (p.Gln29His) c.333A>C (p.Gln111His) c.174A>C (p.Gln58His) c.258A>C (p.Gln86His) c.177A>C (p.Gln59His) | |
| 12 | g.66541833T>A | CA385680173 | GRIP1 | c.479A>T (p.Gln160Leu) c.254A>T (p.Gln85Leu) c.86A>T (p.Gln29Leu) c.332A>T (p.Gln111Leu) c.173A>T (p.Gln58Leu) c.257A>T (p.Gln86Leu) c.176A>T (p.Gln59Leu) | |
| 12 | g.66541833T>C | CA385680174 | GRIP1 | c.479A>G (p.Gln160Arg) c.254A>G (p.Gln85Arg) c.86A>G (p.Gln29Arg) c.332A>G (p.Gln111Arg) c.173A>G (p.Gln58Arg) c.257A>G (p.Gln86Arg) c.176A>G (p.Gln59Arg) | dbSNP |
| 12 | g.66541833T>G | CA385680175 | GRIP1 | c.479A>C (p.Gln160Pro) c.254A>C (p.Gln85Pro) c.86A>C (p.Gln29Pro) c.332A>C (p.Gln111Pro) c.173A>C (p.Gln58Pro) c.257A>C (p.Gln86Pro) c.176A>C (p.Gln59Pro) | |
| 12 | g.66541833T= | CA2043081294 | GRIP1 | c.479A= (p.Gln160=) c.254A= (p.Gln85=) c.86A= (p.Gln29=) c.332A= (p.Gln111=) c.173A= (p.Gln58=) c.257A= (p.Gln86=) c.176A= (p.Gln59=) | |
| 12 | g.66541834G>A | CA385680177 | GRIP1 | c.478C>T (p.Gln160Ter) c.253C>T (p.Gln85Ter) c.85C>T (p.Gln29Ter) c.331C>T (p.Gln111Ter) c.172C>T (p.Gln58Ter) c.256C>T (p.Gln86Ter) c.175C>T (p.Gln59Ter) | |
| 12 | g.66541834G>C | CA385680178 | GRIP1 | c.478C>G (p.Gln160Glu) c.253C>G (p.Gln85Glu) c.85C>G (p.Gln29Glu) c.331C>G (p.Gln111Glu) c.172C>G (p.Gln58Glu) c.256C>G (p.Gln86Glu) c.175C>G (p.Gln59Glu) | |
| 12 | g.66541834G>T | CA385680176 | GRIP1 | c.478C>A (p.Gln160Lys) c.253C>A (p.Gln85Lys) c.85C>A (p.Gln29Lys) c.331C>A (p.Gln111Lys) c.172C>A (p.Gln58Lys) c.256C>A (p.Gln86Lys) c.175C>A (p.Gln59Lys) | |
| 12 | g.66541835C>A | CA480703131 | GRIP1 | c.477G>T (p.Arg159=) c.252G>T (p.Arg84=) c.84G>T (p.Arg28=) c.330G>T (p.Arg110=) c.171G>T (p.Arg57=) c.255G>T (p.Arg85=) c.174G>T (p.Arg58=) | |
| 12 | g.66541835C>G | CA480703132 | GRIP1 | c.477G>C (p.Arg159=) c.252G>C (p.Arg84=) c.84G>C (p.Arg28=) c.330G>C (p.Arg110=) c.171G>C (p.Arg57=) c.255G>C (p.Arg85=) c.174G>C (p.Arg58=) | |
| 12 | g.66541835C>T | CA480703133 | GRIP1 | c.477G>A (p.Arg159=) c.252G>A (p.Arg84=) c.84G>A (p.Arg28=) c.330G>A (p.Arg110=) c.171G>A (p.Arg57=) c.255G>A (p.Arg85=) c.174G>A (p.Arg58=) | ClinVar |
| 12 | g.66541836C>A | CA385680179 | GRIP1 | c.476G>T (p.Arg159Leu) c.251G>T (p.Arg84Leu) c.83G>T (p.Arg28Leu) c.329G>T (p.Arg110Leu) c.170G>T (p.Arg57Leu) c.254G>T (p.Arg85Leu) c.173G>T (p.Arg58Leu) | COSMIC |
| 12 | g.66541836C= | CA2043081295 | GRIP1 | c.476G= (p.Arg159=) c.251G= (p.Arg84=) c.83G= (p.Arg28=) c.329G= (p.Arg110=) c.170G= (p.Arg57=) c.254G= (p.Arg85=) c.173G= (p.Arg58=) | |
| 12 | g.66541836C>G | CA385680180 | GRIP1 | c.476G>C (p.Arg159Pro) c.251G>C (p.Arg84Pro) c.83G>C (p.Arg28Pro) c.329G>C (p.Arg110Pro) c.170G>C (p.Arg57Pro) c.254G>C (p.Arg85Pro) c.173G>C (p.Arg58Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.66541836C>T | CA6674709 | GRIP1 | c.476G>A (p.Arg159Gln) c.251G>A (p.Arg84Gln) c.83G>A (p.Arg28Gln) c.329G>A (p.Arg110Gln) c.170G>A (p.Arg57Gln) c.254G>A (p.Arg85Gln) c.173G>A (p.Arg58Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 12 | g.66541837G>A | CA6674710 | GRIP1 | c.475C>T (p.Arg159Trp) c.250C>T (p.Arg84Trp) c.82C>T (p.Arg28Trp) c.328C>T (p.Arg110Trp) c.169C>T (p.Arg57Trp) c.253C>T (p.Arg85Trp) c.172C>T (p.Arg58Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.66541837G>C | CA385680181 | GRIP1 | c.475C>G (p.Arg159Gly) c.250C>G (p.Arg84Gly) c.82C>G (p.Arg28Gly) c.328C>G (p.Arg110Gly) c.169C>G (p.Arg57Gly) c.253C>G (p.Arg85Gly) c.172C>G (p.Arg58Gly) | |
| 12 | g.66541837G= | CA2043081296 | GRIP1 | c.475C= (p.Arg159=) c.250C= (p.Arg84=) c.82C= (p.Arg28=) c.328C= (p.Arg110=) c.169C= (p.Arg57=) c.253C= (p.Arg85=) c.172C= (p.Arg58=) | |
| 12 | g.66541837G>T | CA480703134 | GRIP1 | c.475C>A (p.Arg159=) c.250C>A (p.Arg84=) c.82C>A (p.Arg28=) c.328C>A (p.Arg110=) c.169C>A (p.Arg57=) c.253C>A (p.Arg85=) c.172C>A (p.Arg58=) | gnomAD v4 |
| 12 | g.66541838C>A | CA480703135 | GRIP1 | c.474G>T (p.Leu158=) c.249G>T (p.Leu83=) c.81G>T (p.Leu27=) c.327G>T (p.Leu109=) c.168G>T (p.Leu56=) c.252G>T (p.Leu84=) c.171G>T (p.Leu57=) | |
| 12 | g.66541838C>G | CA480703136 | GRIP1 | c.474G>C (p.Leu158=) c.249G>C (p.Leu83=) c.81G>C (p.Leu27=) c.327G>C (p.Leu109=) c.168G>C (p.Leu56=) c.252G>C (p.Leu84=) c.171G>C (p.Leu57=) | |
| 12 | g.66541838C>T | CA480703137 | GRIP1 | c.474G>A (p.Leu158=) c.249G>A (p.Leu83=) c.81G>A (p.Leu27=) c.327G>A (p.Leu109=) c.168G>A (p.Leu56=) c.252G>A (p.Leu84=) c.171G>A (p.Leu57=) | |
| 12 | g.66541839A>C | CA385680182 | GRIP1 | c.473T>G (p.Leu158Arg) c.248T>G (p.Leu83Arg) c.80T>G (p.Leu27Arg) c.326T>G (p.Leu109Arg) c.167T>G (p.Leu56Arg) c.251T>G (p.Leu84Arg) c.170T>G (p.Leu57Arg) | |
| 12 | g.66541839A>G | CA385680183 | GRIP1 | c.473T>C (p.Leu158Pro) c.248T>C (p.Leu83Pro) c.80T>C (p.Leu27Pro) c.326T>C (p.Leu109Pro) c.167T>C (p.Leu56Pro) c.251T>C (p.Leu84Pro) c.170T>C (p.Leu57Pro) | |
| 12 | g.66541839A>T | CA385680184 | GRIP1 | c.473T>A (p.Leu158Gln) c.248T>A (p.Leu83Gln) c.80T>A (p.Leu27Gln) c.326T>A (p.Leu109Gln) c.167T>A (p.Leu56Gln) c.251T>A (p.Leu84Gln) c.170T>A (p.Leu57Gln) | |
| 12 | g.66541840G>A | CA480703138 | GRIP1 | c.472C>T (p.Leu158=) c.247C>T (p.Leu83=) c.79C>T (p.Leu27=) c.325C>T (p.Leu109=) c.166C>T (p.Leu56=) c.250C>T (p.Leu84=) c.169C>T (p.Leu57=) | |
| 12 | g.66541840G>C | CA6674711 | GRIP1 | c.472C>G (p.Leu158Val) c.247C>G (p.Leu83Val) c.79C>G (p.Leu27Val) c.325C>G (p.Leu109Val) c.166C>G (p.Leu56Val) c.250C>G (p.Leu84Val) c.169C>G (p.Leu57Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.66541840G= | CA2043081297 | GRIP1 | c.472C= (p.Leu158=) c.247C= (p.Leu83=) c.79C= (p.Leu27=) c.325C= (p.Leu109=) c.166C= (p.Leu56=) c.250C= (p.Leu84=) c.169C= (p.Leu57=) | |
| 12 | g.66541840G>T | CA385680185 | GRIP1 | c.472C>A (p.Leu158Met) c.247C>A (p.Leu83Met) c.79C>A (p.Leu27Met) c.325C>A (p.Leu109Met) c.166C>A (p.Leu56Met) c.250C>A (p.Leu84Met) c.169C>A (p.Leu57Met) | |
| 12 | g.66541841A>C | CA385680186 | GRIP1 | c.471T>G (p.Asn157Lys) c.246T>G (p.Asn82Lys) c.78T>G (p.Asn26Lys) c.324T>G (p.Asn108Lys) c.165T>G (p.Asn55Lys) c.249T>G (p.Asn83Lys) c.168T>G (p.Asn56Lys) | |
| 12 | g.66541841A>G | CA480703139 | GRIP1 | c.471T>C (p.Asn157=) c.246T>C (p.Asn82=) c.78T>C (p.Asn26=) c.324T>C (p.Asn108=) c.165T>C (p.Asn55=) c.249T>C (p.Asn83=) c.168T>C (p.Asn56=) |