UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.101757244A>C | CA481317964 | GNPTAB | c.3402T>G (p.Val1134=) n.268T>G c.153T>G (p.Val51=) c.214T>G c.3321T>G (p.Val1107=) c.3186T>G (p.Val1062=) c.2175T>G (p.Val725=) | |
| 12 | g.101757244A>G | CA481317965 | GNPTAB | c.3402T>C (p.Val1134=) n.268T>C c.153T>C (p.Val51=) c.214T>C c.3321T>C (p.Val1107=) c.3186T>C (p.Val1062=) c.2175T>C (p.Val725=) | |
| 12 | g.101757244A>T | CA481317966 | GNPTAB | c.3402T>A (p.Val1134=) n.268T>A c.153T>A (p.Val51=) c.214T>A c.3321T>A (p.Val1107=) c.3186T>A (p.Val1062=) c.2175T>A (p.Val725=) | |
| 12 | g.101757245A>C | CA386293178 | GNPTAB | c.3401T>G (p.Val1134Gly) n.267T>G c.152T>G (p.Val51Gly) c.213T>G c.3320T>G (p.Val1107Gly) c.3185T>G (p.Val1062Gly) c.2174T>G (p.Val725Gly) | |
| 12 | g.101757245A>G | CA386293179 | GNPTAB | c.3401T>C (p.Val1134Ala) n.267T>C c.152T>C (p.Val51Ala) c.213T>C c.3320T>C (p.Val1107Ala) c.3185T>C (p.Val1062Ala) c.2174T>C (p.Val725Ala) | |
| 12 | g.101757245A>T | CA386293180 | GNPTAB | c.3401T>A (p.Val1134Asp) n.267T>A c.152T>A (p.Val51Asp) c.213T>A c.3320T>A (p.Val1107Asp) c.3185T>A (p.Val1062Asp) c.2174T>A (p.Val725Asp) | |
| 12 | g.101757246C>A | CA386293182 | GNPTAB | c.3400G>T (p.Val1134Phe) n.266G>T c.151G>T (p.Val51Phe) c.212G>T c.3319G>T (p.Val1107Phe) c.3184G>T (p.Val1062Phe) c.2173G>T (p.Val725Phe) | |
| 12 | g.101757246C>G | CA386293183 | GNPTAB | c.3400G>C (p.Val1134Leu) n.266G>C c.151G>C (p.Val51Leu) c.212G>C c.3319G>C (p.Val1107Leu) c.3184G>C (p.Val1062Leu) c.2173G>C (p.Val725Leu) | |
| 12 | g.101757246C>T | CA386293181 | GNPTAB | c.3400G>A (p.Val1134Ile) n.266G>A c.151G>A (p.Val51Ile) c.212G>A c.3319G>A (p.Val1107Ile) c.3184G>A (p.Val1062Ile) c.2173G>A (p.Val725Ile) | |
| 12 | g.101757247C>A | CA481317970 | GNPTAB | c.3399G>T (p.Val1133=) n.265G>T c.150G>T (p.Val50=) c.211G>T c.3318G>T (p.Val1106=) c.3183G>T (p.Val1061=) c.2172G>T (p.Val724=) | |
| 12 | g.101757247C>G | CA481317971 | GNPTAB | c.3399G>C (p.Val1133=) n.265G>C c.150G>C (p.Val50=) c.211G>C c.3318G>C (p.Val1106=) c.3183G>C (p.Val1061=) c.2172G>C (p.Val724=) | |
| 12 | g.101757247C>T | CA481317972 | GNPTAB | c.3399G>A (p.Val1133=) n.265G>A c.150G>A (p.Val50=) c.211G>A c.3318G>A (p.Val1106=) c.3183G>A (p.Val1061=) c.2172G>A (p.Val724=) | ClinVar |
| 12 | g.101757248A>C | CA386293184 | GNPTAB | c.3398T>G (p.Val1133Gly) n.264T>G c.149T>G (p.Val50Gly) c.210T>G c.3317T>G (p.Val1106Gly) c.3182T>G (p.Val1061Gly) c.2171T>G (p.Val724Gly) | |
| 12 | g.101757248A>G | CA386293185 | GNPTAB | c.3398T>C (p.Val1133Ala) n.264T>C c.149T>C (p.Val50Ala) c.210T>C c.3317T>C (p.Val1106Ala) c.3182T>C (p.Val1061Ala) c.2171T>C (p.Val724Ala) | |
| 12 | g.101757248A>T | CA386293186 | GNPTAB | c.3398T>A (p.Val1133Glu) n.264T>A c.149T>A (p.Val50Glu) c.210T>A c.3317T>A (p.Val1106Glu) c.3182T>A (p.Val1061Glu) c.2171T>A (p.Val724Glu) | |
| 12 | g.101757249C>A | CA386293187 | GNPTAB | c.3397G>T (p.Val1133Leu) n.263G>T c.148G>T (p.Val50Leu) c.209G>T c.3316G>T (p.Val1106Leu) c.3181G>T (p.Val1061Leu) c.2170G>T (p.Val724Leu) | |
| 12 | g.101757249C>G | CA386293188 | GNPTAB | c.3397G>C (p.Val1133Leu) n.263G>C c.148G>C (p.Val50Leu) c.209G>C c.3316G>C (p.Val1106Leu) c.3181G>C (p.Val1061Leu) c.2170G>C (p.Val724Leu) | |
| 12 | g.101757249C>T | CA386293189 | GNPTAB | c.3397G>A (p.Val1133Met) n.263G>A c.148G>A (p.Val50Met) c.209G>A c.3316G>A (p.Val1106Met) c.3181G>A (p.Val1061Met) c.2170G>A (p.Val724Met) | gnomAD v4 |
| 12 | g.101757250A>C | CA386293190 | GNPTAB | c.3396T>G (p.His1132Gln) n.262T>G c.147T>G (p.His49Gln) c.208T>G c.3315T>G (p.His1105Gln) c.3180T>G (p.His1060Gln) c.2169T>G (p.His723Gln) | |
| 12 | g.101757250A>G | CA481317974 | GNPTAB | c.3396T>C (p.His1132=) n.262T>C c.147T>C (p.His49=) c.208T>C c.3315T>C (p.His1105=) c.3180T>C (p.His1060=) c.2169T>C (p.His723=) | |
| 12 | g.101757250A>T | CA386293191 | GNPTAB | c.3396T>A (p.His1132Gln) n.262T>A c.147T>A (p.His49Gln) c.208T>A c.3315T>A (p.His1105Gln) c.3180T>A (p.His1060Gln) c.2169T>A (p.His723Gln) | |
| 12 | g.101757250_101757251del | CA2620427203 | GNPTAB | c.3395_3396del (p.His1132ArgfsTer7) n.261_262del c.146_147del (p.His49ArgfsTer7) c.207_208del c.3314_3315del (p.His1105ArgfsTer7) c.3179_3180del (p.His1060ArgfsTer7) c.2168_2169del (p.His723ArgfsTer7) | gnomAD v4 |
| 12 | g.101757251T>A | CA386293192 | GNPTAB | c.3395A>T (p.His1132Leu) n.261A>T c.146A>T (p.His49Leu) c.207A>T c.3314A>T (p.His1105Leu) c.3179A>T (p.His1060Leu) c.2168A>T (p.His723Leu) | |
| 12 | g.101757251T>C | CA386293193 | GNPTAB | c.3395A>G (p.His1132Arg) n.261A>G c.146A>G (p.His49Arg) c.207A>G c.3314A>G (p.His1105Arg) c.3179A>G (p.His1060Arg) c.2168A>G (p.His723Arg) | |
| 12 | g.101757251T>G | CA386293194 | GNPTAB | c.3395A>C (p.His1132Pro) n.261A>C c.146A>C (p.His49Pro) c.207A>C c.3314A>C (p.His1105Pro) c.3179A>C (p.His1060Pro) c.2168A>C (p.His723Pro) | gnomAD v4 |
| 12 | g.101757252G>A | CA386293197 | GNPTAB | c.3394C>T (p.His1132Tyr) n.260C>T c.145C>T (p.His49Tyr) c.206C>T c.3313C>T (p.His1105Tyr) c.3178C>T (p.His1060Tyr) c.2167C>T (p.His723Tyr) | gnomAD v4 |
| 12 | g.101757252G>C | CA386293196 | GNPTAB | c.3394C>G (p.His1132Asp) n.260C>G c.145C>G (p.His49Asp) c.206C>G c.3313C>G (p.His1105Asp) c.3178C>G (p.His1060Asp) c.2167C>G (p.His723Asp) | |
| 12 | g.101757252G>T | CA386293195 | GNPTAB | c.3394C>A (p.His1132Asn) n.260C>A c.145C>A (p.His49Asn) c.206C>A c.3313C>A (p.His1105Asn) c.3178C>A (p.His1060Asn) c.2167C>A (p.His723Asn) | gnomAD v4 |
| 12 | g.101757253A>C | CA481317979 | GNPTAB | c.3393T>G (p.Ser1131=) n.259T>G c.144T>G (p.Ser48=) c.205T>G c.3312T>G (p.Ser1104=) c.3177T>G (p.Ser1059=) c.2166T>G (p.Ser722=) | |
| 12 | g.101757253A>G | CA481317980 | GNPTAB | c.3393T>C (p.Ser1131=) n.259T>C c.144T>C (p.Ser48=) c.205T>C c.3312T>C (p.Ser1104=) c.3177T>C (p.Ser1059=) c.2166T>C (p.Ser722=) | |
| 12 | g.101757253A>T | CA481317981 | GNPTAB | c.3393T>A (p.Ser1131=) n.259T>A c.144T>A (p.Ser48=) c.205T>A c.3312T>A (p.Ser1104=) c.3177T>A (p.Ser1059=) c.2166T>A (p.Ser722=) | |
| 12 | g.101757254G>A | CA356548 | GNPTAB | c.3392C>T (p.Ser1131Phe) n.258C>T c.143C>T (p.Ser48Phe) c.204C>T c.3311C>T (p.Ser1104Phe) c.3176C>T (p.Ser1059Phe) c.2165C>T (p.Ser722Phe) | dbSNP |
| 12 | g.[101757254G>A;101757257_101757258insG] | CA356551 | GNPTAB | c.[3388_3389insC;3392C>T] (p.Val1130AlafsTer10) n.[254_255insC;258C>T] c.[139_140insC;143C>T] (p.Val47AlafsTer10) c.[200_201insC;204C>T] c.[3307_3308insC;3311C>T] (p.Val1103AlafsTer10) c.[3172_3173insC;3176C>T] (p.Val1058AlafsTer10) c.[2161_2162insC;2165C>T] (p.Val721AlafsTer10) | ClinVar |
| 12 | g.101757254G>C | CA386293198 | GNPTAB | c.3392C>G (p.Ser1131Cys) n.258C>G c.143C>G (p.Ser48Cys) c.204C>G c.3311C>G (p.Ser1104Cys) c.3176C>G (p.Ser1059Cys) c.2165C>G (p.Ser722Cys) | |
| 12 | g.101757254G= | CA2058952189 | GNPTAB | c.3392C= (p.Ser1131=) n.258C= c.143C= (p.Ser48=) c.204C= c.3311C= (p.Ser1104=) c.3176C= (p.Ser1059=) c.2165C= (p.Ser722=) | |
| 12 | g.101757254G>T | CA386293199 | GNPTAB | c.3392C>A (p.Ser1131Tyr) n.258C>A c.143C>A (p.Ser48Tyr) c.204C>A c.3311C>A (p.Ser1104Tyr) c.3176C>A (p.Ser1059Tyr) c.2165C>A (p.Ser722Tyr) | |
| 12 | g.101757254_101757257delinsAAAAG | CA2695217194 | GNPTAB | c.3389_3392delinsCTTTT (p.Val1130AlafsTer10) n.255_258delinsCTTTT c.140_143delinsCTTTT (p.Val47AlafsTer10) c.201_204delinsCTTTT c.3308_3311delinsCTTTT (p.Val1103AlafsTer10) c.3173_3176delinsCTTTT (p.Val1058AlafsTer10) c.2162_2165delinsCTTTT (p.Val721AlafsTer10) | |
| 12 | g.101757255A>C | CA386293200 | GNPTAB | c.3391T>G (p.Ser1131Ala) n.257T>G c.142T>G (p.Ser48Ala) c.203T>G c.3310T>G (p.Ser1104Ala) c.3175T>G (p.Ser1059Ala) c.2164T>G (p.Ser722Ala) | |
| 12 | g.101757255A>G | CA386293201 | GNPTAB | c.3391T>C (p.Ser1131Pro) n.257T>C c.142T>C (p.Ser48Pro) c.203T>C c.3310T>C (p.Ser1104Pro) c.3175T>C (p.Ser1059Pro) c.2164T>C (p.Ser722Pro) | |
| 12 | g.101757255A>T | CA386293202 | GNPTAB | c.3391T>A (p.Ser1131Thr) n.257T>A c.142T>A (p.Ser48Thr) c.203T>A c.3310T>A (p.Ser1104Thr) c.3175T>A (p.Ser1059Thr) c.2164T>A (p.Ser722Thr) | |
| 12 | g.101757256A>C | CA481317982 | GNPTAB | c.3390T>G (p.Val1130=) n.256T>G c.141T>G (p.Val47=) c.202T>G c.3309T>G (p.Val1103=) c.3174T>G (p.Val1058=) c.2163T>G (p.Val721=) | |
| 12 | g.101757256A>G | CA481317984 | GNPTAB | c.3390T>C (p.Val1130=) n.256T>C c.141T>C (p.Val47=) c.202T>C c.3309T>C (p.Val1103=) c.3174T>C (p.Val1058=) c.2163T>C (p.Val721=) | |
| 12 | g.101757256A>T | CA481317985 | GNPTAB | c.3390T>A (p.Val1130=) n.256T>A c.141T>A (p.Val47=) c.202T>A c.3309T>A (p.Val1103=) c.3174T>A (p.Val1058=) c.2163T>A (p.Val721=) | |
| 12 | g.101757257A= | CA2058952190 | GNPTAB | c.3389T= (p.Val1130=) n.255T= c.140T= (p.Val47=) c.201T= c.3308T= (p.Val1103=) c.3173T= (p.Val1058=) c.2162T= (p.Val721=) | |
| 12 | g.101757257A>C | CA386293203 | GNPTAB | c.3389T>G (p.Val1130Gly) n.255T>G c.140T>G (p.Val47Gly) c.201T>G c.3308T>G (p.Val1103Gly) c.3173T>G (p.Val1058Gly) c.2162T>G (p.Val721Gly) | |
| 12 | g.101757257A>G | CA386293204 | GNPTAB | c.3389T>C (p.Val1130Ala) n.255T>C c.140T>C (p.Val47Ala) c.201T>C c.3308T>C (p.Val1103Ala) c.3173T>C (p.Val1058Ala) c.2162T>C (p.Val721Ala) | |
| 12 | g.101757257A>T | CA386293205 | GNPTAB | c.3389T>A (p.Val1130Asp) n.255T>A c.140T>A (p.Val47Asp) c.201T>A c.3308T>A (p.Val1103Asp) c.3173T>A (p.Val1058Asp) c.2162T>A (p.Val721Asp) | |
| 12 | g.101757257_101757258insG | CA356550 | GNPTAB | c.3388_3389insC (p.Val1130AlafsTer10) n.254_255insC c.139_140insC (p.Val47AlafsTer10) c.200_201insC c.3307_3308insC (p.Val1103AlafsTer10) c.3172_3173insC (p.Val1058AlafsTer10) c.2161_2162insC (p.Val721AlafsTer10) | dbSNP |
| 12 | g.101757258C>A | CA386293206 | GNPTAB | c.3388G>T (p.Val1130Phe) n.254G>T c.139G>T (p.Val47Phe) c.200G>T c.3307G>T (p.Val1103Phe) c.3172G>T (p.Val1058Phe) c.2161G>T (p.Val721Phe) | |
| 12 | g.101757258C= | CA2058952191 | GNPTAB | c.3388G= (p.Val1130=) n.254G= c.139G= (p.Val47=) c.200G= c.3307G= (p.Val1103=) c.3172G= (p.Val1058=) c.2161G= (p.Val721=) |