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 |
|---|---|---|---|---|---|
| 21 | g.46366985del | CA645615545 | PCNT | c.*1507del (n.*1507del) n.3097del c.3011del (p.Lys1004ArgfsTer9) c.*2254del (n.*2254del) n.3280del c.2657del (p.Lys886ArgfsTer9) c.3092del (p.Lys1031ArgfsTer9) c.1895del (p.Lys632ArgfsTer9) c.791del (p.Lys264ArgfsTer9) | COSMIC |
| 21 | g.46366983A= | CA2392640207 | PCNT | c.*1505A= (n.*1505A=) n.3095A= c.3009A= (p.Lys1003=) c.*2252A= (n.*2252A=) n.3278A= c.2655A= (p.Lys885=) c.3090A= (p.Lys1030=) c.1893A= (p.Lys631=) c.789A= (p.Lys263=) | |
| 21 | g.46366983A>C | CA410569948 | PCNT | c.*1505A>C (n.*1505A>C) n.3095A>C c.3009A>C (p.Lys1003Asn) c.*2252A>C (n.*2252A>C) n.3278A>C c.2655A>C (p.Lys885Asn) c.3090A>C (p.Lys1030Asn) c.1893A>C (p.Lys631Asn) c.789A>C (p.Lys263Asn) | |
| 21 | g.46366983A>G | CA513173735 | PCNT | c.*1505A>G (n.*1505A>G) n.3095A>G c.3009A>G (p.Lys1003=) c.*2252A>G (n.*2252A>G) n.3278A>G c.2655A>G (p.Lys885=) c.3090A>G (p.Lys1030=) c.1893A>G (p.Lys631=) c.789A>G (p.Lys263=) | ClinVar dbSNP gnomAD v4 |
| 21 | g.46366983A>T | CA410569950 | PCNT | c.*1505A>T (n.*1505A>T) n.3095A>T c.3009A>T (p.Lys1003Asn) c.*2252A>T (n.*2252A>T) n.3278A>T c.2655A>T (p.Lys885Asn) c.3090A>T (p.Lys1030Asn) c.1893A>T (p.Lys631Asn) c.789A>T (p.Lys263Asn) | |
| 21 | g.46366984A>C | CA410569954 | PCNT | c.*1506A>C (n.*1506A>C) n.3096A>C c.3010A>C (p.Lys1004Gln) c.*2253A>C (n.*2253A>C) n.3279A>C c.2656A>C (p.Lys886Gln) c.3091A>C (p.Lys1031Gln) c.1894A>C (p.Lys632Gln) c.790A>C (p.Lys264Gln) | |
| 21 | g.46366984A>G | CA410569956 | PCNT | c.*1506A>G (n.*1506A>G) n.3096A>G c.3010A>G (p.Lys1004Glu) c.*2253A>G (n.*2253A>G) n.3279A>G c.2656A>G (p.Lys886Glu) c.3091A>G (p.Lys1031Glu) c.1894A>G (p.Lys632Glu) c.790A>G (p.Lys264Glu) | |
| 21 | g.46366984A>T | CA410569959 | PCNT | c.*1506A>T (n.*1506A>T) n.3096A>T c.3010A>T (p.Lys1004Ter) c.*2253A>T (n.*2253A>T) n.3279A>T c.2656A>T (p.Lys886Ter) c.3091A>T (p.Lys1031Ter) c.1894A>T (p.Lys632Ter) c.790A>T (p.Lys264Ter) | ClinVar |
| 21 | g.46366985A>C | CA410569968 | PCNT | c.*1507A>C (n.*1507A>C) n.3097A>C c.3011A>C (p.Lys1004Thr) c.*2254A>C (n.*2254A>C) n.3280A>C c.2657A>C (p.Lys886Thr) c.3092A>C (p.Lys1031Thr) c.1895A>C (p.Lys632Thr) c.791A>C (p.Lys264Thr) | |
| 21 | g.46366985A>G | CA410569961 | PCNT | c.*1507A>G (n.*1507A>G) n.3097A>G c.3011A>G (p.Lys1004Arg) c.*2254A>G (n.*2254A>G) n.3280A>G c.2657A>G (p.Lys886Arg) c.3092A>G (p.Lys1031Arg) c.1895A>G (p.Lys632Arg) c.791A>G (p.Lys264Arg) | |
| 21 | g.46366985A>T | CA410569964 | PCNT | c.*1507A>T (n.*1507A>T) n.3097A>T c.3011A>T (p.Lys1004Met) c.*2254A>T (n.*2254A>T) n.3280A>T c.2657A>T (p.Lys886Met) c.3092A>T (p.Lys1031Met) c.1895A>T (p.Lys632Met) c.791A>T (p.Lys264Met) | |
| 21 | g.46366986G>A | CA513173737 | PCNT | c.*1508G>A (n.*1508G>A) n.3098G>A c.3012G>A (p.Lys1004=) c.*2255G>A (n.*2255G>A) n.3281G>A c.2658G>A (p.Lys886=) c.3093G>A (p.Lys1031=) c.1896G>A (p.Lys632=) c.792G>A (p.Lys264=) | |
| 21 | g.46366986G>C | CA410569970 | PCNT | c.*1508G>C (n.*1508G>C) n.3098G>C c.3012G>C (p.Lys1004Asn) c.*2255G>C (n.*2255G>C) n.3281G>C c.2658G>C (p.Lys886Asn) c.3093G>C (p.Lys1031Asn) c.1896G>C (p.Lys632Asn) c.792G>C (p.Lys264Asn) | gnomAD v4 |
| 21 | g.46366986G>T | CA410569973 | PCNT | c.*1508G>T (n.*1508G>T) n.3098G>T c.3012G>T (p.Lys1004Asn) c.*2255G>T (n.*2255G>T) n.3281G>T c.2658G>T (p.Lys886Asn) c.3093G>T (p.Lys1031Asn) c.1896G>T (p.Lys632Asn) c.792G>T (p.Lys264Asn) | |
| 21 | g.46366987G>A | CA410569977 | PCNT | c.*1509G>A (n.*1509G>A) n.3099G>A c.3013G>A (p.Asp1005Asn) c.*2256G>A (n.*2256G>A) n.3282G>A c.2659G>A (p.Asp887Asn) c.3094G>A (p.Asp1032Asn) c.1897G>A (p.Asp633Asn) c.793G>A (p.Asp265Asn) | |
| 21 | g.46366987G>C | CA410569980 | PCNT | c.*1509G>C (n.*1509G>C) n.3099G>C c.3013G>C (p.Asp1005His) c.*2256G>C (n.*2256G>C) n.3282G>C c.2659G>C (p.Asp887His) c.3094G>C (p.Asp1032His) c.1897G>C (p.Asp633His) c.793G>C (p.Asp265His) | |
| 21 | g.46366987G>T | CA410569982 | PCNT | c.*1509G>T (n.*1509G>T) n.3099G>T c.3013G>T (p.Asp1005Tyr) c.*2256G>T (n.*2256G>T) n.3282G>T c.2659G>T (p.Asp887Tyr) c.3094G>T (p.Asp1032Tyr) c.1897G>T (p.Asp633Tyr) c.793G>T (p.Asp265Tyr) | COSMIC |
| 21 | g.46366988A>C | CA410569984 | PCNT | c.*1510A>C (n.*1510A>C) n.3100A>C c.3014A>C (p.Asp1005Ala) c.*2257A>C (n.*2257A>C) n.3283A>C c.2660A>C (p.Asp887Ala) c.3095A>C (p.Asp1032Ala) c.1898A>C (p.Asp633Ala) c.794A>C (p.Asp265Ala) | |
| 21 | g.46366988A>G | CA410569988 | PCNT | c.*1510A>G (n.*1510A>G) n.3100A>G c.3014A>G (p.Asp1005Gly) c.*2257A>G (n.*2257A>G) n.3283A>G c.2660A>G (p.Asp887Gly) c.3095A>G (p.Asp1032Gly) c.1898A>G (p.Asp633Gly) c.794A>G (p.Asp265Gly) | |
| 21 | g.46366988A>T | CA410569986 | PCNT | c.*1510A>T (n.*1510A>T) n.3100A>T c.3014A>T (p.Asp1005Val) c.*2257A>T (n.*2257A>T) n.3283A>T c.2660A>T (p.Asp887Val) c.3095A>T (p.Asp1032Val) c.1898A>T (p.Asp633Val) c.794A>T (p.Asp265Val) | |
| 21 | g.46366988_46366990delinsACT | CA2392640208 | PCNT | c.*1510_*1512delinsACT (n.*1510_*1512delinsACT) n.3100_3102delinsACT c.3014_3016delinsACT (p.Asp1005=) c.*2257_*2259delinsACT (n.*2257_*2259delinsACT) n.3283_3285delinsACT c.2660_2662delinsACT (p.Asp887=) c.3095_3097delinsACT (p.Asp1032=) c.1898_1900delinsACT (p.Asp633=) c.794_796delinsACT (p.Asp265=) | |
| 21 | g.46366989C>A | CA410569989 | PCNT | c.*1511C>A (n.*1511C>A) n.3101C>A c.3015C>A (p.Asp1005Glu) c.*2258C>A (n.*2258C>A) n.3284C>A c.2661C>A (p.Asp887Glu) c.3096C>A (p.Asp1032Glu) c.1899C>A (p.Asp633Glu) c.795C>A (p.Asp265Glu) | |
| 21 | g.46366989C>G | CA410569994 | PCNT | c.*1511C>G (n.*1511C>G) n.3101C>G c.3015C>G (p.Asp1005Glu) c.*2258C>G (n.*2258C>G) n.3284C>G c.2661C>G (p.Asp887Glu) c.3096C>G (p.Asp1032Glu) c.1899C>G (p.Asp633Glu) c.795C>G (p.Asp265Glu) | |
| 21 | g.46366989C>T | CA513173740 | PCNT | c.*1511C>T (n.*1511C>T) n.3101C>T c.3015C>T (p.Asp1005=) c.*2258C>T (n.*2258C>T) n.3284C>T c.2661C>T (p.Asp887=) c.3096C>T (p.Asp1032=) c.1899C>T (p.Asp633=) c.795C>T (p.Asp265=) | |
| 21 | g.46366993_46366994del | CA10079148 | PCNT | c.*1515_*1516del (n.*1515_*1516del) n.3105_3106del c.3019_3020del (p.Leu1007SerfsTer?) c.*2262_*2263del (n.*2262_*2263del) n.3288_3289del c.2665_2666del (p.Leu889SerfsTer?) c.3100_3101del (p.Leu1034SerfsTer?) c.1903_1904del (p.Leu635SerfsTer?) c.799_800del (p.Leu267SerfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.46366990T>A | CA410569998 | PCNT | c.*1512T>A (n.*1512T>A) n.3102T>A c.3016T>A (p.Ser1006Thr) c.*2259T>A (n.*2259T>A) n.3285T>A c.2662T>A (p.Ser888Thr) c.3097T>A (p.Ser1033Thr) c.1900T>A (p.Ser634Thr) c.796T>A (p.Ser266Thr) | |
| 21 | g.46366990T>C | CA10079149 | PCNT | c.*1512T>C (n.*1512T>C) n.3102T>C c.3016T>C (p.Ser1006Pro) c.*2259T>C (n.*2259T>C) n.3285T>C c.2662T>C (p.Ser888Pro) c.3097T>C (p.Ser1033Pro) c.1900T>C (p.Ser634Pro) c.796T>C (p.Ser266Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.46366990T>G | CA410570001 | PCNT | c.*1512T>G (n.*1512T>G) n.3102T>G c.3016T>G (p.Ser1006Ala) c.*2259T>G (n.*2259T>G) n.3285T>G c.2662T>G (p.Ser888Ala) c.3097T>G (p.Ser1033Ala) c.1900T>G (p.Ser634Ala) c.796T>G (p.Ser266Ala) | |
| 21 | g.46366990T= | CA2392640209 | PCNT | c.*1512T= (n.*1512T=) n.3102T= c.3016T= (p.Ser1006=) c.*2259T= (n.*2259T=) n.3285T= c.2662T= (p.Ser888=) c.3097T= (p.Ser1033=) c.1900T= (p.Ser634=) c.796T= (p.Ser266=) | |
| 21 | g.46366991C>A | CA410570004 | PCNT | c.*1513C>A (n.*1513C>A) n.3103C>A c.3017C>A (p.Ser1006Tyr) c.*2260C>A (n.*2260C>A) n.3286C>A c.2663C>A (p.Ser888Tyr) c.3098C>A (p.Ser1033Tyr) c.1901C>A (p.Ser634Tyr) c.797C>A (p.Ser266Tyr) | |
| 21 | g.46366991C= | CA2392640210 | PCNT | c.*1513C= (n.*1513C=) n.3103C= c.3017C= (p.Ser1006=) c.*2260C= (n.*2260C=) n.3286C= c.2663C= (p.Ser888=) c.3098C= (p.Ser1033=) c.1901C= (p.Ser634=) c.797C= (p.Ser266=) | |
| 21 | g.46366991C>G | CA10079150 | PCNT | c.*1513C>G (n.*1513C>G) n.3103C>G c.3017C>G (p.Ser1006Cys) c.*2260C>G (n.*2260C>G) n.3286C>G c.2663C>G (p.Ser888Cys) c.3098C>G (p.Ser1033Cys) c.1901C>G (p.Ser634Cys) c.797C>G (p.Ser266Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.46366991C>T | CA410570008 | PCNT | c.*1513C>T (n.*1513C>T) n.3103C>T c.3017C>T (p.Ser1006Phe) c.*2260C>T (n.*2260C>T) n.3286C>T c.2663C>T (p.Ser888Phe) c.3098C>T (p.Ser1033Phe) c.1901C>T (p.Ser634Phe) c.797C>T (p.Ser266Phe) | COSMIC |
| 21 | g.46366992T>A | CA513173742 | PCNT | c.*1514T>A (n.*1514T>A) n.3104T>A c.3018T>A (p.Ser1006=) c.*2261T>A (n.*2261T>A) n.3287T>A c.2664T>A (p.Ser888=) c.3099T>A (p.Ser1033=) c.1902T>A (p.Ser634=) c.798T>A (p.Ser266=) | |
| 21 | g.46366992T>C | CA513173744 | PCNT | c.*1514T>C (n.*1514T>C) n.3104T>C c.3018T>C (p.Ser1006=) c.*2261T>C (n.*2261T>C) n.3287T>C c.2664T>C (p.Ser888=) c.3099T>C (p.Ser1033=) c.1902T>C (p.Ser634=) c.798T>C (p.Ser266=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.46366992T>G | CA513173745 | PCNT | c.*1514T>G (n.*1514T>G) n.3104T>G c.3018T>G (p.Ser1006=) c.*2261T>G (n.*2261T>G) n.3287T>G c.2664T>G (p.Ser888=) c.3099T>G (p.Ser1033=) c.1902T>G (p.Ser634=) c.798T>G (p.Ser266=) | |
| 21 | g.46366992T= | CA2392640211 | PCNT | c.*1514T= (n.*1514T=) n.3104T= c.3018T= (p.Ser1006=) c.*2261T= (n.*2261T=) n.3287T= c.2664T= (p.Ser888=) c.3099T= (p.Ser1033=) c.1902T= (p.Ser634=) c.798T= (p.Ser266=) | |
| 21 | g.46366993C>A | CA410570013 | PCNT | c.*1515C>A (n.*1515C>A) n.3105C>A c.3019C>A (p.Leu1007Ile) c.*2262C>A (n.*2262C>A) n.3288C>A c.2665C>A (p.Leu889Ile) c.3100C>A (p.Leu1034Ile) c.1903C>A (p.Leu635Ile) c.799C>A (p.Leu267Ile) | gnomAD v4 |
| 21 | g.46366993C>G | CA410570015 | PCNT | c.*1515C>G (n.*1515C>G) n.3105C>G c.3019C>G (p.Leu1007Val) c.*2262C>G (n.*2262C>G) n.3288C>G c.2665C>G (p.Leu889Val) c.3100C>G (p.Leu1034Val) c.1903C>G (p.Leu635Val) c.799C>G (p.Leu267Val) | |
| 21 | g.46366993C>T | CA410570016 | PCNT | c.*1515C>T (n.*1515C>T) n.3105C>T c.3019C>T (p.Leu1007Phe) c.*2262C>T (n.*2262C>T) n.3288C>T c.2665C>T (p.Leu889Phe) c.3100C>T (p.Leu1034Phe) c.1903C>T (p.Leu635Phe) c.799C>T (p.Leu267Phe) | |
| 21 | g.46366994T>A | CA410570018 | PCNT | c.*1516T>A (n.*1516T>A) n.3106T>A c.3020T>A (p.Leu1007His) c.*2263T>A (n.*2263T>A) n.3289T>A c.2666T>A (p.Leu889His) c.3101T>A (p.Leu1034His) c.1904T>A (p.Leu635His) c.800T>A (p.Leu267His) | |
| 21 | g.46366994T>C | CA410570021 | PCNT | c.*1516T>C (n.*1516T>C) n.3106T>C c.3020T>C (p.Leu1007Pro) c.*2263T>C (n.*2263T>C) n.3289T>C c.2666T>C (p.Leu889Pro) c.3101T>C (p.Leu1034Pro) c.1904T>C (p.Leu635Pro) c.800T>C (p.Leu267Pro) | |
| 21 | g.46366994T>G | CA410570023 | PCNT | c.*1516T>G (n.*1516T>G) n.3106T>G c.3020T>G (p.Leu1007Arg) c.*2263T>G (n.*2263T>G) n.3289T>G c.2666T>G (p.Leu889Arg) c.3101T>G (p.Leu1034Arg) c.1904T>G (p.Leu635Arg) c.800T>G (p.Leu267Arg) | |
| 21 | g.46366995T>A | CA513173748 | PCNT | c.*1517T>A (n.*1517T>A) n.3107T>A c.3021T>A (p.Leu1007=) c.*2264T>A (n.*2264T>A) n.3290T>A c.2667T>A (p.Leu889=) c.3102T>A (p.Leu1034=) c.1905T>A (p.Leu635=) c.801T>A (p.Leu267=) | |
| 21 | g.46366995T>C | CA513173749 | PCNT | c.*1517T>C (n.*1517T>C) n.3107T>C c.3021T>C (p.Leu1007=) c.*2264T>C (n.*2264T>C) n.3290T>C c.2667T>C (p.Leu889=) c.3102T>C (p.Leu1034=) c.1905T>C (p.Leu635=) c.801T>C (p.Leu267=) | ClinVar |
| 21 | g.46366995T>G | CA513173750 | PCNT | c.*1517T>G (n.*1517T>G) n.3107T>G c.3021T>G (p.Leu1007=) c.*2264T>G (n.*2264T>G) n.3290T>G c.2667T>G (p.Leu889=) c.3102T>G (p.Leu1034=) c.1905T>G (p.Leu635=) c.801T>G (p.Leu267=) | |
| 21 | g.46366996C>A | CA410570031 | PCNT | c.*1518C>A (n.*1518C>A) n.3108C>A c.3022C>A (p.His1008Asn) c.*2265C>A (n.*2265C>A) n.3291C>A c.2668C>A (p.His890Asn) c.3103C>A (p.His1035Asn) c.1906C>A (p.His636Asn) c.802C>A (p.His268Asn) | |
| 21 | g.46366996C>G | CA410570026 | PCNT | c.*1518C>G (n.*1518C>G) n.3108C>G c.3022C>G (p.His1008Asp) c.*2265C>G (n.*2265C>G) n.3291C>G c.2668C>G (p.His890Asp) c.3103C>G (p.His1035Asp) c.1906C>G (p.His636Asp) c.802C>G (p.His268Asp) | |
| 21 | g.46366996C>T | CA410570029 | PCNT | c.*1518C>T (n.*1518C>T) n.3108C>T c.3022C>T (p.His1008Tyr) c.*2265C>T (n.*2265C>T) n.3291C>T c.2668C>T (p.His890Tyr) c.3103C>T (p.His1035Tyr) c.1906C>T (p.His636Tyr) c.802C>T (p.His268Tyr) | gnomAD v4 |
| 21 | g.46366998_46367000del | CA2655020864 | PCNT | c.*1520_*1522del (n.*1520_*1522del) n.3110_3112del c.3024_3026del (p.His1008del) c.*2267_*2269del (n.*2267_*2269del) n.3293_3295del c.2670_2672del (p.His890del) c.3105_3107del (p.His1035del) c.1908_1910del (p.His636del) c.804_806del (p.His268del) | gnomAD v4 |