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.101761209T>A | CA386295378 | GNPTAB | c.3053A>T (p.Asp1018Val) c.2972A>T (p.Asp991Val) c.2837A>T (p.Asp946Val) c.1826A>T (p.Asp609Val) | |
| 12 | g.101761209T>C | CA344273 | GNPTAB | c.3053A>G (p.Asp1018Gly) c.2972A>G (p.Asp991Gly) c.2837A>G (p.Asp946Gly) c.1826A>G (p.Asp609Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101761209T>G | CA386295381 | GNPTAB | c.3053A>C (p.Asp1018Ala) c.2972A>C (p.Asp991Ala) c.2837A>C (p.Asp946Ala) c.1826A>C (p.Asp609Ala) | |
| 12 | g.101761209T= | CA2058952470 | GNPTAB | c.3053A= (p.Asp1018=) c.2972A= (p.Asp991=) c.2837A= (p.Asp946=) c.1826A= (p.Asp609=) | |
| 12 | g.101761210C>A | CA386295385 | GNPTAB | c.3052G>T (p.Asp1018Tyr) c.2971G>T (p.Asp991Tyr) c.2836G>T (p.Asp946Tyr) c.1825G>T (p.Asp609Tyr) | |
| 12 | g.101761210C>G | CA386295388 | GNPTAB | c.3052G>C (p.Asp1018His) c.2971G>C (p.Asp991His) c.2836G>C (p.Asp946His) c.1825G>C (p.Asp609His) | |
| 12 | g.101761210C>T | CA386295390 | GNPTAB | c.3052G>A (p.Asp1018Asn) c.2971G>A (p.Asp991Asn) c.2836G>A (p.Asp946Asn) c.1825G>A (p.Asp609Asn) | |
| 12 | g.101761211A>C | CA481318903 | GNPTAB | c.3051T>G (p.Val1017=) c.2970T>G (p.Val990=) c.2835T>G (p.Val945=) c.1824T>G (p.Val608=) | |
| 12 | g.101761211A>G | CA481318905 | GNPTAB | c.3051T>C (p.Val1017=) c.2970T>C (p.Val990=) c.2835T>C (p.Val945=) c.1824T>C (p.Val608=) | |
| 12 | g.101761211A>T | CA481318906 | GNPTAB | c.3051T>A (p.Val1017=) c.2970T>A (p.Val990=) c.2835T>A (p.Val945=) c.1824T>A (p.Val608=) | |
| 12 | g.101761212A>C | CA386295391 | GNPTAB | c.3050T>G (p.Val1017Gly) c.2969T>G (p.Val990Gly) c.2834T>G (p.Val945Gly) c.1823T>G (p.Val608Gly) | |
| 12 | g.101761212A>G | CA386295392 | GNPTAB | c.3050T>C (p.Val1017Ala) c.2969T>C (p.Val990Ala) c.2834T>C (p.Val945Ala) c.1823T>C (p.Val608Ala) | |
| 12 | g.101761212A>T | CA386295395 | GNPTAB | c.3050T>A (p.Val1017Asp) c.2969T>A (p.Val990Asp) c.2834T>A (p.Val945Asp) c.1823T>A (p.Val608Asp) | |
| 12 | g.101761213C>A | CA386295400 | GNPTAB | c.3049G>T (p.Val1017Phe) c.2968G>T (p.Val990Phe) c.2833G>T (p.Val945Phe) c.1822G>T (p.Val608Phe) | |
| 12 | g.101761213C>G | CA386295399 | GNPTAB | c.3049G>C (p.Val1017Leu) c.2968G>C (p.Val990Leu) c.2833G>C (p.Val945Leu) c.1822G>C (p.Val608Leu) | |
| 12 | g.101761213C>T | CA386295397 | GNPTAB | c.3049G>A (p.Val1017Ile) c.2968G>A (p.Val990Ile) c.2833G>A (p.Val945Ile) c.1822G>A (p.Val608Ile) | |
| 12 | g.101761214T>A | CA386295403 | GNPTAB | c.3048A>T (p.Glu1016Asp) c.2967A>T (p.Glu989Asp) c.2832A>T (p.Glu944Asp) c.1821A>T (p.Glu607Asp) | |
| 12 | g.101761214T>C | CA481318907 | GNPTAB | c.3048A>G (p.Glu1016=) c.2967A>G (p.Glu989=) c.2832A>G (p.Glu944=) c.1821A>G (p.Glu607=) | |
| 12 | g.101761214T>G | CA386295405 | GNPTAB | c.3048A>C (p.Glu1016Asp) c.2967A>C (p.Glu989Asp) c.2832A>C (p.Glu944Asp) c.1821A>C (p.Glu607Asp) | |
| 12 | g.101761215T>A | CA386295407 | GNPTAB | c.3047A>T (p.Glu1016Val) c.2966A>T (p.Glu989Val) c.2831A>T (p.Glu944Val) c.1820A>T (p.Glu607Val) | |
| 12 | g.101761215T>C | CA386295409 | GNPTAB | c.3047A>G (p.Glu1016Gly) c.2966A>G (p.Glu989Gly) c.2831A>G (p.Glu944Gly) c.1820A>G (p.Glu607Gly) | gnomAD v4 |
| 12 | g.101761215T>G | CA386295410 | GNPTAB | c.3047A>C (p.Glu1016Ala) c.2966A>C (p.Glu989Ala) c.2831A>C (p.Glu944Ala) c.1820A>C (p.Glu607Ala) | |
| 12 | g.101761216C>A | CA386295413 | GNPTAB | c.3046G>T (p.Glu1016Ter) c.2965G>T (p.Glu989Ter) c.2830G>T (p.Glu944Ter) c.1819G>T (p.Glu607Ter) | |
| 12 | g.101761216C>G | CA386295415 | GNPTAB | c.3046G>C (p.Glu1016Gln) c.2965G>C (p.Glu989Gln) c.2830G>C (p.Glu944Gln) c.1819G>C (p.Glu607Gln) | |
| 12 | g.101761216C>T | CA386295418 | GNPTAB | c.3046G>A (p.Glu1016Lys) c.2965G>A (p.Glu989Lys) c.2830G>A (p.Glu944Lys) c.1819G>A (p.Glu607Lys) | |
| 12 | g.101761217A>C | CA386295420 | GNPTAB | c.3045T>G (p.Asp1015Glu) c.2964T>G (p.Asp988Glu) c.2829T>G (p.Asp943Glu) c.1818T>G (p.Asp606Glu) | |
| 12 | g.101761217A>G | CA481318909 | GNPTAB | c.3045T>C (p.Asp1015=) c.2964T>C (p.Asp988=) c.2829T>C (p.Asp943=) c.1818T>C (p.Asp606=) | |
| 12 | g.101761217A>T | CA386295422 | GNPTAB | c.3045T>A (p.Asp1015Glu) c.2964T>A (p.Asp988Glu) c.2829T>A (p.Asp943Glu) c.1818T>A (p.Asp606Glu) | |
| 12 | g.101761218T>A | CA386295425 | GNPTAB | c.3044A>T (p.Asp1015Val) c.2963A>T (p.Asp988Val) c.2828A>T (p.Asp943Val) c.1817A>T (p.Asp606Val) | |
| 12 | g.101761218T>C | CA386295427 | GNPTAB | c.3044A>G (p.Asp1015Gly) c.2963A>G (p.Asp988Gly) c.2828A>G (p.Asp943Gly) c.1817A>G (p.Asp606Gly) | |
| 12 | g.101761218T>G | CA386295430 | GNPTAB | c.3044A>C (p.Asp1015Ala) c.2963A>C (p.Asp988Ala) c.2828A>C (p.Asp943Ala) c.1817A>C (p.Asp606Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101761218T= | CA2058952483 | GNPTAB | c.3044A= (p.Asp1015=) c.2963A= (p.Asp988=) c.2828A= (p.Asp943=) c.1817A= (p.Asp606=) | |
| 12 | g.101761219C>A | CA386295433 | GNPTAB | c.3043G>T (p.Asp1015Tyr) c.2962G>T (p.Asp988Tyr) c.2827G>T (p.Asp943Tyr) c.1816G>T (p.Asp606Tyr) | |
| 12 | g.101761219C= | CA2058952486 | GNPTAB | c.3043G= (p.Asp1015=) c.2962G= (p.Asp988=) c.2827G= (p.Asp943=) c.1816G= (p.Asp606=) | |
| 12 | g.101761219C>G | CA386295435 | GNPTAB | c.3043G>C (p.Asp1015His) c.2962G>C (p.Asp988His) c.2827G>C (p.Asp943His) c.1816G>C (p.Asp606His) | |
| 12 | g.101761219C>T | CA242453924 | GNPTAB | c.3043G>A (p.Asp1015Asn) c.2962G>A (p.Asp988Asn) c.2827G>A (p.Asp943Asn) c.1816G>A (p.Asp606Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101761220A>C | CA386295443 | GNPTAB | c.3042T>G (p.Phe1014Leu) c.2961T>G (p.Phe987Leu) c.2826T>G (p.Phe942Leu) c.1815T>G (p.Phe605Leu) | |
| 12 | g.101761220A>G | CA481318910 | GNPTAB | c.3042T>C (p.Phe1014=) c.2961T>C (p.Phe987=) c.2826T>C (p.Phe942=) c.1815T>C (p.Phe605=) | |
| 12 | g.101761220A>T | CA386295440 | GNPTAB | c.3042T>A (p.Phe1014Leu) c.2961T>A (p.Phe987Leu) c.2826T>A (p.Phe942Leu) c.1815T>A (p.Phe605Leu) | |
| 12 | g.101761222dup | CA2695217198 | GNPTAB | c.3042dup (p.Asp1015Ter) c.2961dup (p.Asp988Ter) c.2826dup (p.Asp943Ter) c.1815dup (p.Asp606Ter) | |
| 12 | g.101761221A= | CA2058952488 | GNPTAB | c.3041T= (p.Phe1014=) c.2960T= (p.Phe987=) c.2825T= (p.Phe942=) c.1814T= (p.Phe605=) | |
| 12 | g.101761221A>C | CA386295447 | GNPTAB | c.3041T>G (p.Phe1014Cys) c.2960T>G (p.Phe987Cys) c.2825T>G (p.Phe942Cys) c.1814T>G (p.Phe605Cys) | |
| 12 | g.101761221A>G | CA386295448 | GNPTAB | c.3041T>C (p.Phe1014Ser) c.2960T>C (p.Phe987Ser) c.2825T>C (p.Phe942Ser) c.1814T>C (p.Phe605Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101761221A>T | CA386295450 | GNPTAB | c.3041T>A (p.Phe1014Tyr) c.2960T>A (p.Phe987Tyr) c.2825T>A (p.Phe942Tyr) c.1814T>A (p.Phe605Tyr) | |
| 12 | g.101761222A>C | CA386295453 | GNPTAB | c.3040T>G (p.Phe1014Val) c.2959T>G (p.Phe987Val) c.2824T>G (p.Phe942Val) c.1813T>G (p.Phe605Val) | |
| 12 | g.101761222A>G | CA386295455 | GNPTAB | c.3040T>C (p.Phe1014Leu) c.2959T>C (p.Phe987Leu) c.2824T>C (p.Phe942Leu) c.1813T>C (p.Phe605Leu) | gnomAD v4 |
| 12 | g.101761222A>T | CA386295457 | GNPTAB | c.3040T>A (p.Phe1014Ile) c.2959T>A (p.Phe987Ile) c.2824T>A (p.Phe942Ile) c.1813T>A (p.Phe605Ile) | |
| 12 | g.101761223G>A | CA481318912 | GNPTAB | c.3039C>T (p.Val1013=) c.2958C>T (p.Val986=) c.2823C>T (p.Val941=) c.1812C>T (p.Val604=) | |
| 12 | g.101761223G>C | CA481318913 | GNPTAB | c.3039C>G (p.Val1013=) c.2958C>G (p.Val986=) c.2823C>G (p.Val941=) c.1812C>G (p.Val604=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.101761223G= | CA2058952491 | GNPTAB | c.3039C= (p.Val1013=) c.2958C= (p.Val986=) c.2823C= (p.Val941=) c.1812C= (p.Val604=) |