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.21564043A>C | CA338877683 | ALPL | c.475A>C (p.Lys159Gln) n.535A>C c.244A>C (p.Lys82Gln) c.310A>C (p.Lys104Gln) c.319A>C (p.Lys107Gln) | |
| 1 | g.21564043A>G | CA338877684 | ALPL | c.475A>G (p.Lys159Glu) n.535A>G c.244A>G (p.Lys82Glu) c.310A>G (p.Lys104Glu) c.319A>G (p.Lys107Glu) | |
| 1 | g.21564043A>T | CA338877685 | ALPL | c.475A>T (p.Lys159Ter) n.535A>T c.244A>T (p.Lys82Ter) c.310A>T (p.Lys104Ter) c.319A>T (p.Lys107Ter) | |
| 1 | g.21564044A>C | CA338877688 | ALPL | c.476A>C (p.Lys159Thr) n.536A>C c.245A>C (p.Lys82Thr) c.311A>C (p.Lys104Thr) c.320A>C (p.Lys107Thr) | |
| 1 | g.21564044A>G | CA338877690 | ALPL | c.476A>G (p.Lys159Arg) n.536A>G c.245A>G (p.Lys82Arg) c.311A>G (p.Lys104Arg) c.320A>G (p.Lys107Arg) | |
| 1 | g.21564044A>T | CA338877691 | ALPL | c.476A>T (p.Lys159Ile) n.536A>T c.245A>T (p.Lys82Ile) c.311A>T (p.Lys104Ile) c.320A>T (p.Lys107Ile) | |
| 1 | g.21564045A>C | CA338877694 | ALPL | c.477A>C (p.Lys159Asn) n.537A>C c.246A>C (p.Lys82Asn) c.312A>C (p.Lys104Asn) c.321A>C (p.Lys107Asn) | |
| 1 | g.21564045A>G | CA416527453 | ALPL | c.477A>G (p.Lys159=) n.537A>G c.246A>G (p.Lys82=) c.312A>G (p.Lys104=) c.321A>G (p.Lys107=) | |
| 1 | g.21564045A>T | CA338877696 | ALPL | c.477A>T (p.Lys159Asn) n.537A>T c.246A>T (p.Lys82Asn) c.312A>T (p.Lys104Asn) c.321A>T (p.Lys107Asn) | |
| 1 | g.21564046T>A | CA338877698 | ALPL | c.478T>A (p.Ser160Thr) n.538T>A c.247T>A (p.Ser83Thr) c.313T>A (p.Ser105Thr) c.322T>A (p.Ser108Thr) | |
| 1 | g.21564046T>C | CA338877699 | ALPL | c.478T>C (p.Ser160Pro) n.538T>C c.247T>C (p.Ser83Pro) c.313T>C (p.Ser105Pro) c.322T>C (p.Ser108Pro) | |
| 1 | g.21564046T>G | CA338877701 | ALPL | c.478T>G (p.Ser160Ala) n.538T>G c.247T>G (p.Ser83Ala) c.313T>G (p.Ser105Ala) c.322T>G (p.Ser108Ala) | |
| 1 | g.21564047C>A | CA338877704 | ALPL | c.479C>A (p.Ser160Tyr) n.539C>A c.248C>A (p.Ser83Tyr) c.314C>A (p.Ser105Tyr) c.323C>A (p.Ser108Tyr) | dbSNP |
| 1 | g.21564047C= | CA1158014437 | ALPL | c.479C= (p.Ser160=) n.539C= c.248C= (p.Ser83=) c.314C= (p.Ser105=) c.323C= (p.Ser108=) | |
| 1 | g.21564047C>G | CA338877706 | ALPL | c.479C>G (p.Ser160Cys) n.539C>G c.248C>G (p.Ser83Cys) c.314C>G (p.Ser105Cys) c.323C>G (p.Ser108Cys) | |
| 1 | g.21564047C>T | CA338877708 | ALPL | c.479C>T (p.Ser160Phe) n.539C>T c.248C>T (p.Ser83Phe) c.314C>T (p.Ser105Phe) c.323C>T (p.Ser108Phe) | |
| 1 | g.21564047_21564048delinsCT | CA1158014438 | ALPL | c.479_480delinsCT (p.Ser160=) n.539_540delinsCT c.248_249delinsCT (p.Ser83=) c.314_315delinsCT (p.Ser105=) c.323_324delinsCT (p.Ser108=) | |
| 1 | g.21564048del | CA1158014439 | ALPL | c.480del (p.Val161TrpfsTer4) n.540del c.249del (p.Val84TrpfsTer4) c.315del (p.Val106TrpfsTer4) c.324del (p.Val109TrpfsTer4) | ClinVar dbSNP gnomAD v4 |
| 1 | g.21564048T>A | CA416527462 | ALPL | c.480T>A (p.Ser160=) n.540T>A c.249T>A (p.Ser83=) c.315T>A (p.Ser105=) c.324T>A (p.Ser108=) | |
| 1 | g.21564048T>C | CA416527465 | ALPL | c.480T>C (p.Ser160=) n.540T>C c.249T>C (p.Ser83=) c.315T>C (p.Ser105=) c.324T>C (p.Ser108=) | |
| 1 | g.21564048T>G | CA416527464 | ALPL | c.480T>G (p.Ser160=) n.540T>G c.249T>G (p.Ser83=) c.315T>G (p.Ser105=) c.324T>G (p.Ser108=) | |
| 1 | g.21564049G>A | CA338877710 | ALPL | c.481G>A (p.Val161Met) n.541G>A c.250G>A (p.Val84Met) c.316G>A (p.Val106Met) c.325G>A (p.Val109Met) | gnomAD v4 |
| 1 | g.21564049G>C | CA338877712 | ALPL | c.481G>C (p.Val161Leu) n.541G>C c.250G>C (p.Val84Leu) c.316G>C (p.Val106Leu) c.325G>C (p.Val109Leu) | |
| 1 | g.21564049G>T | CA338877714 | ALPL | c.481G>T (p.Val161Leu) n.541G>T c.250G>T (p.Val84Leu) c.316G>T (p.Val106Leu) c.325G>T (p.Val109Leu) | |
| 1 | g.21564050T>A | CA338877716 | ALPL | c.482T>A (p.Val161Glu) n.542T>A c.251T>A (p.Val84Glu) c.317T>A (p.Val106Glu) c.326T>A (p.Val109Glu) | |
| 1 | g.21564050T>C | CA338877718 | ALPL | c.482T>C (p.Val161Ala) n.542T>C c.251T>C (p.Val84Ala) c.317T>C (p.Val106Ala) c.326T>C (p.Val109Ala) | |
| 1 | g.21564050T>G | CA338877720 | ALPL | c.482T>G (p.Val161Gly) n.542T>G c.251T>G (p.Val84Gly) c.317T>G (p.Val106Gly) c.326T>G (p.Val109Gly) | |
| 1 | g.21564051G>A | CA416527475 | ALPL | c.483G>A (p.Val161=) n.543G>A c.252G>A (p.Val84=) c.318G>A (p.Val106=) c.327G>A (p.Val109=) | |
| 1 | g.21564051G>C | CA416527478 | ALPL | c.483G>C (p.Val161=) n.543G>C c.252G>C (p.Val84=) c.318G>C (p.Val106=) c.327G>C (p.Val109=) | |
| 1 | g.21564051G>T | CA416527477 | ALPL | c.483G>T (p.Val161=) n.543G>T c.252G>T (p.Val84=) c.318G>T (p.Val106=) c.327G>T (p.Val109=) | |
| 1 | g.21564052G>A | CA666514 | ALPL | c.484G>A (p.Gly162Ser) n.544G>A c.253G>A (p.Gly85Ser) c.319G>A (p.Gly107Ser) c.328G>A (p.Gly110Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21564052G>C | CA338877725 | ALPL | c.484G>C (p.Gly162Arg) n.544G>C c.253G>C (p.Gly85Arg) c.319G>C (p.Gly107Arg) c.328G>C (p.Gly110Arg) | |
| 1 | g.21564052G= | CA1158014440 | ALPL | c.484G= (p.Gly162=) n.544G= c.253G= (p.Gly85=) c.319G= (p.Gly107=) c.328G= (p.Gly110=) | |
| 1 | g.21564052G>T | CA338877723 | ALPL | c.484G>T (p.Gly162Cys) n.544G>T c.253G>T (p.Gly85Cys) c.319G>T (p.Gly107Cys) c.328G>T (p.Gly110Cys) | |
| 1 | g.21564053G>A | CA338877726 | ALPL | c.485G>A (p.Gly162Asp) n.545G>A c.254G>A (p.Gly85Asp) c.320G>A (p.Gly107Asp) c.329G>A (p.Gly110Asp) | |
| 1 | g.21564053G>C | CA338877728 | ALPL | c.485G>C (p.Gly162Ala) n.545G>C c.254G>C (p.Gly85Ala) c.320G>C (p.Gly107Ala) c.329G>C (p.Gly110Ala) | |
| 1 | g.21564053G= | CA1141580636 | ALPL | c.485G= (p.Gly162=) n.545G= c.254G= (p.Gly85=) c.320G= (p.Gly107=) c.329G= (p.Gly110=) | |
| 1 | g.21564053G>T | CA256933 | ALPL | c.485G>T (p.Gly162Val) n.545G>T c.254G>T (p.Gly85Val) c.320G>T (p.Gly107Val) c.329G>T (p.Gly110Val) | ClinVar dbSNP gnomAD v4 |
| 1 | g.21564054C>A | CA416527488 | ALPL | c.486C>A (p.Gly162=) n.546C>A c.255C>A (p.Gly85=) c.321C>A (p.Gly107=) c.330C>A (p.Gly110=) | |
| 1 | g.21564054C>G | CA416527490 | ALPL | c.486C>G (p.Gly162=) n.546C>G c.255C>G (p.Gly85=) c.321C>G (p.Gly107=) c.330C>G (p.Gly110=) | |
| 1 | g.21564054C>T | CA416527487 | ALPL | c.486C>T (p.Gly162=) n.546C>T c.255C>T (p.Gly85=) c.321C>T (p.Gly107=) c.330C>T (p.Gly110=) | ClinVar |
| 1 | g.21564055A>C | CA338877732 | ALPL | c.487A>C (p.Ile163Leu) n.547A>C c.256A>C (p.Ile86Leu) c.322A>C (p.Ile108Leu) c.331A>C (p.Ile111Leu) | |
| 1 | g.21564055A>G | CA338877733 | ALPL | c.487A>G (p.Ile163Val) n.547A>G c.256A>G (p.Ile86Val) c.322A>G (p.Ile108Val) c.331A>G (p.Ile111Val) | |
| 1 | g.21564055A>T | CA338877735 | ALPL | c.487A>T (p.Ile163Phe) n.547A>T c.256A>T (p.Ile86Phe) c.322A>T (p.Ile108Phe) c.331A>T (p.Ile111Phe) | |
| 1 | g.21564056T>A | CA338877736 | ALPL | c.488T>A (p.Ile163Asn) n.548T>A c.257T>A (p.Ile86Asn) c.323T>A (p.Ile108Asn) c.332T>A (p.Ile111Asn) | |
| 1 | g.21564056T>C | CA338877739 | ALPL | c.488T>C (p.Ile163Thr) n.548T>C c.257T>C (p.Ile86Thr) c.323T>C (p.Ile108Thr) c.332T>C (p.Ile111Thr) | |
| 1 | g.21564056T>G | CA338877741 | ALPL | c.488T>G (p.Ile163Ser) n.548T>G c.257T>G (p.Ile86Ser) c.323T>G (p.Ile108Ser) c.332T>G (p.Ile111Ser) | |
| 1 | g.21564057T>A | CA416527500 | ALPL | c.489T>A (p.Ile163=) n.549T>A c.258T>A (p.Ile86=) c.324T>A (p.Ile108=) c.333T>A (p.Ile111=) | |
| 1 | g.21564057T>C | CA416527499 | ALPL | c.489T>C (p.Ile163=) n.549T>C c.258T>C (p.Ile86=) c.324T>C (p.Ile108=) c.333T>C (p.Ile111=) | |
| 1 | g.21564057T>G | CA338877743 | ALPL | c.489T>G (p.Ile163Met) n.549T>G c.258T>G (p.Ile86Met) c.324T>G (p.Ile108Met) c.333T>G (p.Ile111Met) |