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.101768023_101768107dup | CA951152237 | GNPTAB | c.1338_1408+14dup c.1338_1422dup (p.Asn475AspfsTer2) c.1257_1327+14dup c.1122_1192+14dup c.111_181+14dup | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.101768082C>A | CA6746648 | GNPTAB | c.1363G>T (p.Ala455Ser) n.22G>T c.1282G>T (p.Ala428Ser) c.1147G>T (p.Ala383Ser) c.136G>T (p.Ala46Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101768082C= | CA2058956979 | GNPTAB | c.1363G= (p.Ala455=) n.22G= c.1282G= (p.Ala428=) c.1147G= (p.Ala383=) c.136G= (p.Ala46=) | |
| 12 | g.101768082C>G | CA386301907 | GNPTAB | c.1363G>C (p.Ala455Pro) n.22G>C c.1282G>C (p.Ala428Pro) c.1147G>C (p.Ala383Pro) c.136G>C (p.Ala46Pro) | |
| 12 | g.101768082C>T | CA386301909 | GNPTAB | c.1363G>A (p.Ala455Thr) n.22G>A c.1282G>A (p.Ala428Thr) c.1147G>A (p.Ala383Thr) c.136G>A (p.Ala46Thr) | |
| 12 | g.101768083C>A | CA386301911 | GNPTAB | c.1362G>T (p.Lys454Asn) n.21G>T c.1281G>T (p.Lys427Asn) c.1146G>T (p.Lys382Asn) c.135G>T (p.Lys45Asn) | dbSNP |
| 12 | g.101768083C= | CA2058956980 | GNPTAB | c.1362G= (p.Lys454=) n.21G= c.1281G= (p.Lys427=) c.1146G= (p.Lys382=) c.135G= (p.Lys45=) | |
| 12 | g.101768083C>G | CA386301913 | GNPTAB | c.1362G>C (p.Lys454Asn) n.21G>C c.1281G>C (p.Lys427Asn) c.1146G>C (p.Lys382Asn) c.135G>C (p.Lys45Asn) | |
| 12 | g.101768083C>T | CA481320457 | GNPTAB | c.1362G>A (p.Lys454=) n.21G>A c.1281G>A (p.Lys427=) c.1146G>A (p.Lys382=) c.135G>A (p.Lys45=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.101768084T>A | CA386301916 | GNPTAB | c.1361A>T (p.Lys454Met) n.20A>T c.1280A>T (p.Lys427Met) c.1145A>T (p.Lys382Met) c.134A>T (p.Lys45Met) | |
| 12 | g.101768084T>C | CA386301917 | GNPTAB | c.1361A>G (p.Lys454Arg) n.20A>G c.1280A>G (p.Lys427Arg) c.1145A>G (p.Lys382Arg) c.134A>G (p.Lys45Arg) | |
| 12 | g.101768084T>G | CA386301918 | GNPTAB | c.1361A>C (p.Lys454Thr) n.20A>C c.1280A>C (p.Lys427Thr) c.1145A>C (p.Lys382Thr) c.134A>C (p.Lys45Thr) | |
| 12 | g.101768085T>A | CA386301919 | GNPTAB | c.1360A>T (p.Lys454Ter) n.19A>T c.1279A>T (p.Lys427Ter) c.1144A>T (p.Lys382Ter) c.133A>T (p.Lys45Ter) | |
| 12 | g.101768085T>C | CA386301920 | GNPTAB | c.1360A>G (p.Lys454Glu) n.19A>G c.1279A>G (p.Lys427Glu) c.1144A>G (p.Lys382Glu) c.133A>G (p.Lys45Glu) | |
| 12 | g.101768085T>G | CA386301921 | GNPTAB | c.1360A>C (p.Lys454Gln) n.19A>C c.1279A>C (p.Lys427Gln) c.1144A>C (p.Lys382Gln) c.133A>C (p.Lys45Gln) | |
| 12 | g.101768086G>A | CA481320461 | GNPTAB | c.1359C>T (p.Asp453=) n.18C>T c.1278C>T (p.Asp426=) c.1143C>T (p.Asp381=) c.132C>T (p.Asp44=) | |
| 12 | g.101768086G>C | CA386301922 | GNPTAB | c.1359C>G (p.Asp453Glu) n.18C>G c.1278C>G (p.Asp426Glu) c.1143C>G (p.Asp381Glu) c.132C>G (p.Asp44Glu) | |
| 12 | g.101768086G>T | CA386301923 | GNPTAB | c.1359C>A (p.Asp453Glu) n.18C>A c.1278C>A (p.Asp426Glu) c.1143C>A (p.Asp381Glu) c.132C>A (p.Asp44Glu) | |
| 12 | g.101768087T>A | CA386301924 | GNPTAB | c.1358A>T (p.Asp453Val) n.17A>T c.1277A>T (p.Asp426Val) c.1142A>T (p.Asp381Val) c.131A>T (p.Asp44Val) | |
| 12 | g.101768087T>C | CA386301926 | GNPTAB | c.1358A>G (p.Asp453Gly) n.17A>G c.1277A>G (p.Asp426Gly) c.1142A>G (p.Asp381Gly) c.131A>G (p.Asp44Gly) | |
| 12 | g.101768087T>G | CA386301925 | GNPTAB | c.1358A>C (p.Asp453Ala) n.17A>C c.1277A>C (p.Asp426Ala) c.1142A>C (p.Asp381Ala) c.131A>C (p.Asp44Ala) | |
| 12 | g.101768088C>A | CA386301927 | GNPTAB | c.1357G>T (p.Asp453Tyr) n.16G>T c.1276G>T (p.Asp426Tyr) c.1141G>T (p.Asp381Tyr) c.130G>T (p.Asp44Tyr) | |
| 12 | g.101768088C>G | CA386301928 | GNPTAB | c.1357G>C (p.Asp453His) n.16G>C c.1276G>C (p.Asp426His) c.1141G>C (p.Asp381His) c.130G>C (p.Asp44His) | |
| 12 | g.101768088C>T | CA386301929 | GNPTAB | c.1357G>A (p.Asp453Asn) n.16G>A c.1276G>A (p.Asp426Asn) c.1141G>A (p.Asp381Asn) c.130G>A (p.Asp44Asn) | |
| 12 | g.101768089A>C | CA386301930 | GNPTAB | c.1356T>G (p.Cys452Trp) n.15T>G c.1275T>G (p.Cys425Trp) c.1140T>G (p.Cys380Trp) c.129T>G (p.Cys43Trp) | |
| 12 | g.101768089A>G | CA481320468 | GNPTAB | c.1356T>C (p.Cys452=) n.15T>C c.1275T>C (p.Cys425=) c.1140T>C (p.Cys380=) c.129T>C (p.Cys43=) | ClinVar |
| 12 | g.101768089A>T | CA386301931 | GNPTAB | c.1356T>A (p.Cys452Ter) n.15T>A c.1275T>A (p.Cys425Ter) c.1140T>A (p.Cys380Ter) c.129T>A (p.Cys43Ter) | |
| 12 | g.101768090C>A | CA386301932 | GNPTAB | c.1355G>T (p.Cys452Phe) n.14G>T c.1274G>T (p.Cys425Phe) c.1139G>T (p.Cys380Phe) c.128G>T (p.Cys43Phe) | |
| 12 | g.101768090C>G | CA386301933 | GNPTAB | c.1355G>C (p.Cys452Ser) n.14G>C c.1274G>C (p.Cys425Ser) c.1139G>C (p.Cys380Ser) c.128G>C (p.Cys43Ser) | |
| 12 | g.101768090C>T | CA386301934 | GNPTAB | c.1355G>A (p.Cys452Tyr) n.14G>A c.1274G>A (p.Cys425Tyr) c.1139G>A (p.Cys380Tyr) c.128G>A (p.Cys43Tyr) | gnomAD v4 |
| 12 | g.101768091A= | CA2058956981 | GNPTAB | c.1354T= (p.Cys452=) n.13T= c.1273T= (p.Cys425=) c.1138T= (p.Cys380=) c.127T= (p.Cys43=) | |
| 12 | g.101768091A>C | CA386301935 | GNPTAB | c.1354T>G (p.Cys452Gly) n.13T>G c.1273T>G (p.Cys425Gly) c.1138T>G (p.Cys380Gly) c.127T>G (p.Cys43Gly) | |
| 12 | g.101768091A>G | CA386301936 | GNPTAB | c.1354T>C (p.Cys452Arg) n.13T>C c.1273T>C (p.Cys425Arg) c.1138T>C (p.Cys380Arg) c.127T>C (p.Cys43Arg) | |
| 12 | g.101768091A>T | CA6746649 | GNPTAB | c.1354T>A (p.Cys452Ser) n.13T>A c.1273T>A (p.Cys425Ser) c.1138T>A (p.Cys380Ser) c.127T>A (p.Cys43Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101768092A>C | CA386301937 | GNPTAB | c.1353T>G (p.Tyr451Ter) n.12T>G c.1272T>G (p.Tyr424Ter) c.1137T>G (p.Tyr379Ter) c.126T>G (p.Tyr42Ter) | |
| 12 | g.101768092A>G | CA481320473 | GNPTAB | c.1353T>C (p.Tyr451=) n.12T>C c.1272T>C (p.Tyr424=) c.1137T>C (p.Tyr379=) c.126T>C (p.Tyr42=) | |
| 12 | g.101768092A>T | CA386301938 | GNPTAB | c.1353T>A (p.Tyr451Ter) n.12T>A c.1272T>A (p.Tyr424Ter) c.1137T>A (p.Tyr379Ter) c.126T>A (p.Tyr42Ter) | |
| 12 | g.101768093T>A | CA386301939 | GNPTAB | c.1352A>T (p.Tyr451Phe) n.11A>T c.1271A>T (p.Tyr424Phe) c.1136A>T (p.Tyr379Phe) c.125A>T (p.Tyr42Phe) | |
| 12 | g.101768093T>C | CA386301940 | GNPTAB | c.1352A>G (p.Tyr451Cys) n.11A>G c.1271A>G (p.Tyr424Cys) c.1136A>G (p.Tyr379Cys) c.125A>G (p.Tyr42Cys) | gnomAD v4 |
| 12 | g.101768093T>G | CA386301941 | GNPTAB | c.1352A>C (p.Tyr451Ser) n.11A>C c.1271A>C (p.Tyr424Ser) c.1136A>C (p.Tyr379Ser) c.125A>C (p.Tyr42Ser) | |
| 12 | g.101768094A= | CA2058956982 | GNPTAB | c.1351T= (p.Tyr451=) n.10T= c.1270T= (p.Tyr424=) c.1135T= (p.Tyr379=) c.124T= (p.Tyr42=) | |
| 12 | g.101768094A>C | CA386301942 | GNPTAB | c.1351T>G (p.Tyr451Asp) n.10T>G c.1270T>G (p.Tyr424Asp) c.1135T>G (p.Tyr379Asp) c.124T>G (p.Tyr42Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101768094A>G | CA386301943 | GNPTAB | c.1351T>C (p.Tyr451His) n.10T>C c.1270T>C (p.Tyr424His) c.1135T>C (p.Tyr379His) c.124T>C (p.Tyr42His) | |
| 12 | g.101768094A>T | CA386301944 | GNPTAB | c.1351T>A (p.Tyr451Asn) n.10T>A c.1270T>A (p.Tyr424Asn) c.1135T>A (p.Tyr379Asn) c.124T>A (p.Tyr42Asn) | |
| 12 | g.101768095G>A | CA481320477 | GNPTAB | c.1350C>T (p.Gly450=) n.9C>T c.1269C>T (p.Gly423=) c.1134C>T (p.Gly378=) c.123C>T (p.Gly41=) | |
| 12 | g.101768095G>C | CA481320480 | GNPTAB | c.1350C>G (p.Gly450=) n.9C>G c.1269C>G (p.Gly423=) c.1134C>G (p.Gly378=) c.123C>G (p.Gly41=) | gnomAD v4 |
| 12 | g.101768095G>T | CA481320479 | GNPTAB | c.1350C>A (p.Gly450=) n.9C>A c.1269C>A (p.Gly423=) c.1134C>A (p.Gly378=) c.123C>A (p.Gly41=) | |
| 12 | g.101768096C>A | CA386301947 | GNPTAB | c.1349G>T (p.Gly450Val) n.8G>T c.1268G>T (p.Gly423Val) c.1133G>T (p.Gly378Val) c.122G>T (p.Gly41Val) | |
| 12 | g.101768096C>G | CA386301945 | GNPTAB | c.1349G>C (p.Gly450Ala) n.8G>C c.1268G>C (p.Gly423Ala) c.1133G>C (p.Gly378Ala) c.122G>C (p.Gly41Ala) | |
| 12 | g.101768096C>T | CA386301946 | GNPTAB | c.1349G>A (p.Gly450Asp) n.8G>A c.1268G>A (p.Gly423Asp) c.1133G>A (p.Gly378Asp) c.122G>A (p.Gly41Asp) |