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.21844887A>C | CA384118933 | ABCC9 | c.3125T>G (p.Leu1042Arg) n.702T>G c.*2223T>G (n.*2223T>G) n.2626T>G c.3074T>G (p.Leu1025Arg) c.2006T>G (p.Leu669Arg) c.3086T>G (p.Leu1029Arg) c.2984T>G (p.Leu995Arg) c.2258T>G (p.Leu753Arg) | |
| 12 | g.21844887A>G | CA384118918 | ABCC9 | c.3125T>C (p.Leu1042Pro) n.702T>C c.*2223T>C (n.*2223T>C) n.2626T>C c.3074T>C (p.Leu1025Pro) c.2006T>C (p.Leu669Pro) c.3086T>C (p.Leu1029Pro) c.2984T>C (p.Leu995Pro) c.2258T>C (p.Leu753Pro) | |
| 12 | g.21844887A>T | CA384118917 | ABCC9 | c.3125T>A (p.Leu1042His) n.702T>A c.*2223T>A (n.*2223T>A) n.2626T>A c.3074T>A (p.Leu1025His) c.2006T>A (p.Leu669His) c.3086T>A (p.Leu1029His) c.2984T>A (p.Leu995His) c.2258T>A (p.Leu753His) | |
| 12 | g.21844888G>A | CA384118936 | ABCC9 | c.3124C>T (p.Leu1042Phe) n.701C>T c.*2222C>T (n.*2222C>T) n.2625C>T c.3073C>T (p.Leu1025Phe) c.2005C>T (p.Leu669Phe) c.3085C>T (p.Leu1029Phe) c.2983C>T (p.Leu995Phe) c.2257C>T (p.Leu753Phe) | gnomAD v4 |
| 12 | g.21844888G>C | CA384118939 | ABCC9 | c.3124C>G (p.Leu1042Val) n.701C>G c.*2222C>G (n.*2222C>G) n.2625C>G c.3073C>G (p.Leu1025Val) c.2005C>G (p.Leu669Val) c.3085C>G (p.Leu1029Val) c.2983C>G (p.Leu995Val) c.2257C>G (p.Leu753Val) | |
| 12 | g.21844888G>T | CA384118937 | ABCC9 | c.3124C>A (p.Leu1042Ile) n.701C>A c.*2222C>A (n.*2222C>A) n.2625C>A c.3073C>A (p.Leu1025Ile) c.2005C>A (p.Leu669Ile) c.3085C>A (p.Leu1029Ile) c.2983C>A (p.Leu995Ile) c.2257C>A (p.Leu753Ile) | |
| 12 | g.21844889T>A | CA478870675 | ABCC9 | c.3123A>T (p.Ile1041=) n.700A>T c.*2221A>T (n.*2221A>T) n.2624A>T c.3072A>T (p.Ile1024=) c.2004A>T (p.Ile668=) c.3084A>T (p.Ile1028=) c.2982A>T (p.Ile994=) c.2256A>T (p.Ile752=) | gnomAD v4 |
| 12 | g.21844889T>C | CA384118942 | ABCC9 | c.3123A>G (p.Ile1041Met) n.700A>G c.*2221A>G (n.*2221A>G) n.2624A>G c.3072A>G (p.Ile1024Met) c.2004A>G (p.Ile668Met) c.3084A>G (p.Ile1028Met) c.2982A>G (p.Ile994Met) c.2256A>G (p.Ile752Met) | |
| 12 | g.21844889T>G | CA478870678 | ABCC9 | c.3123A>C (p.Ile1041=) n.700A>C c.*2221A>C (n.*2221A>C) n.2624A>C c.3072A>C (p.Ile1024=) c.2004A>C (p.Ile668=) c.3084A>C (p.Ile1028=) c.2982A>C (p.Ile994=) c.2256A>C (p.Ile752=) | |
| 12 | g.21844890A>C | CA384118945 | ABCC9 | c.3122T>G (p.Ile1041Arg) n.699T>G c.*2220T>G (n.*2220T>G) n.2623T>G c.3071T>G (p.Ile1024Arg) c.2003T>G (p.Ile668Arg) c.3083T>G (p.Ile1028Arg) c.2981T>G (p.Ile994Arg) c.2255T>G (p.Ile752Arg) | |
| 12 | g.21844890A>G | CA384118947 | ABCC9 | c.3122T>C (p.Ile1041Thr) n.699T>C c.*2220T>C (n.*2220T>C) n.2623T>C c.3071T>C (p.Ile1024Thr) c.2003T>C (p.Ile668Thr) c.3083T>C (p.Ile1028Thr) c.2981T>C (p.Ile994Thr) c.2255T>C (p.Ile752Thr) | |
| 12 | g.21844890A>T | CA384118960 | ABCC9 | c.3122T>A (p.Ile1041Lys) n.699T>A c.*2220T>A (n.*2220T>A) n.2623T>A c.3071T>A (p.Ile1024Lys) c.2003T>A (p.Ile668Lys) c.3083T>A (p.Ile1028Lys) c.2981T>A (p.Ile994Lys) c.2255T>A (p.Ile752Lys) | |
| 12 | g.21844891T>A | CA384118963 | ABCC9 | c.3121A>T (p.Ile1041Leu) n.698A>T c.*2219A>T (n.*2219A>T) n.2622A>T c.3070A>T (p.Ile1024Leu) c.2002A>T (p.Ile668Leu) c.3082A>T (p.Ile1028Leu) c.2980A>T (p.Ile994Leu) c.2254A>T (p.Ile752Leu) | |
| 12 | g.21844891T>C | CA384118964 | ABCC9 | c.3121A>G (p.Ile1041Val) n.698A>G c.*2219A>G (n.*2219A>G) n.2622A>G c.3070A>G (p.Ile1024Val) c.2002A>G (p.Ile668Val) c.3082A>G (p.Ile1028Val) c.2980A>G (p.Ile994Val) c.2254A>G (p.Ile752Val) | |
| 12 | g.21844891T>G | CA384118965 | ABCC9 | c.3121A>C (p.Ile1041Leu) n.698A>C c.*2219A>C (n.*2219A>C) n.2622A>C c.3070A>C (p.Ile1024Leu) c.2002A>C (p.Ile668Leu) c.3082A>C (p.Ile1028Leu) c.2980A>C (p.Ile994Leu) c.2254A>C (p.Ile752Leu) | |
| 12 | g.21844892G>A | CA478870684 | ABCC9 | c.3120C>T (p.Ser1040=) n.697C>T c.*2218C>T (n.*2218C>T) n.2621C>T c.3069C>T (p.Ser1023=) c.2001C>T (p.Ser667=) c.3081C>T (p.Ser1027=) c.2979C>T (p.Ser993=) c.2253C>T (p.Ser751=) | |
| 12 | g.21844892G>C | CA384118966 | ABCC9 | c.3120C>G (p.Ser1040Arg) n.697C>G c.*2218C>G (n.*2218C>G) n.2621C>G c.3069C>G (p.Ser1023Arg) c.2001C>G (p.Ser667Arg) c.3081C>G (p.Ser1027Arg) c.2979C>G (p.Ser993Arg) c.2253C>G (p.Ser751Arg) | |
| 12 | g.21844892G>T | CA384118967 | ABCC9 | c.3120C>A (p.Ser1040Arg) n.697C>A c.*2218C>A (n.*2218C>A) n.2621C>A c.3069C>A (p.Ser1023Arg) c.2001C>A (p.Ser667Arg) c.3081C>A (p.Ser1027Arg) c.2979C>A (p.Ser993Arg) c.2253C>A (p.Ser751Arg) | |
| 12 | g.21844893C>A | CA384118969 | ABCC9 | c.3119G>T (p.Ser1040Ile) n.696G>T c.*2217G>T (n.*2217G>T) n.2620G>T c.3068G>T (p.Ser1023Ile) c.2000G>T (p.Ser667Ile) c.3080G>T (p.Ser1027Ile) c.2978G>T (p.Ser993Ile) c.2252G>T (p.Ser751Ile) | COSMIC COSMIC |
| 12 | g.21844893C>G | CA384118971 | ABCC9 | c.3119G>C (p.Ser1040Thr) n.696G>C c.*2217G>C (n.*2217G>C) n.2620G>C c.3068G>C (p.Ser1023Thr) c.2000G>C (p.Ser667Thr) c.3080G>C (p.Ser1027Thr) c.2978G>C (p.Ser993Thr) c.2252G>C (p.Ser751Thr) | |
| 12 | g.21844893C>T | CA384118973 | ABCC9 | c.3119G>A (p.Ser1040Asn) n.696G>A c.*2217G>A (n.*2217G>A) n.2620G>A c.3068G>A (p.Ser1023Asn) c.2000G>A (p.Ser667Asn) c.3080G>A (p.Ser1027Asn) c.2978G>A (p.Ser993Asn) c.2252G>A (p.Ser751Asn) | |
| 12 | g.21844894T>A | CA384118975 | ABCC9 | c.3118A>T (p.Ser1040Cys) n.695A>T c.*2216A>T (n.*2216A>T) n.2619A>T c.3067A>T (p.Ser1023Cys) c.1999A>T (p.Ser667Cys) c.3079A>T (p.Ser1027Cys) c.2977A>T (p.Ser993Cys) c.2251A>T (p.Ser751Cys) | |
| 12 | g.21844894T>C | CA384118976 | ABCC9 | c.3118A>G (p.Ser1040Gly) n.695A>G c.*2216A>G (n.*2216A>G) n.2619A>G c.3067A>G (p.Ser1023Gly) c.1999A>G (p.Ser667Gly) c.3079A>G (p.Ser1027Gly) c.2977A>G (p.Ser993Gly) c.2251A>G (p.Ser751Gly) | |
| 12 | g.21844894T>G | CA384118977 | ABCC9 | c.3118A>C (p.Ser1040Arg) n.695A>C c.*2216A>C (n.*2216A>C) n.2619A>C c.3067A>C (p.Ser1023Arg) c.1999A>C (p.Ser667Arg) c.3079A>C (p.Ser1027Arg) c.2977A>C (p.Ser993Arg) c.2251A>C (p.Ser751Arg) | |
| 12 | g.21844895A>C | CA384118978 | ABCC9 | c.3117T>G (p.Phe1039Leu) n.694T>G c.*2215T>G (n.*2215T>G) n.2618T>G c.3066T>G (p.Phe1022Leu) c.1998T>G (p.Phe666Leu) c.3078T>G (p.Phe1026Leu) c.2976T>G (p.Phe992Leu) c.2250T>G (p.Phe750Leu) | |
| 12 | g.21844895A>G | CA478870690 | ABCC9 | c.3117T>C (p.Phe1039=) n.694T>C c.*2215T>C (n.*2215T>C) n.2618T>C c.3066T>C (p.Phe1022=) c.1998T>C (p.Phe666=) c.3078T>C (p.Phe1026=) c.2976T>C (p.Phe992=) c.2250T>C (p.Phe750=) | gnomAD v4 |
| 12 | g.21844895A>T | CA384118979 | ABCC9 | c.3117T>A (p.Phe1039Leu) n.694T>A c.*2215T>A (n.*2215T>A) n.2618T>A c.3066T>A (p.Phe1022Leu) c.1998T>A (p.Phe666Leu) c.3078T>A (p.Phe1026Leu) c.2976T>A (p.Phe992Leu) c.2250T>A (p.Phe750Leu) | |
| 12 | g.21844896A>C | CA384118980 | ABCC9 | c.3116T>G (p.Phe1039Cys) n.693T>G c.*2214T>G (n.*2214T>G) n.2617T>G c.3065T>G (p.Phe1022Cys) c.1997T>G (p.Phe666Cys) c.3077T>G (p.Phe1026Cys) c.2975T>G (p.Phe992Cys) c.2249T>G (p.Phe750Cys) | |
| 12 | g.21844896A>G | CA384118981 | ABCC9 | c.3116T>C (p.Phe1039Ser) n.693T>C c.*2214T>C (n.*2214T>C) n.2617T>C c.3065T>C (p.Phe1022Ser) c.1997T>C (p.Phe666Ser) c.3077T>C (p.Phe1026Ser) c.2975T>C (p.Phe992Ser) c.2249T>C (p.Phe750Ser) | |
| 12 | g.21844896A>T | CA384118982 | ABCC9 | c.3116T>A (p.Phe1039Tyr) n.693T>A c.*2214T>A (n.*2214T>A) n.2617T>A c.3065T>A (p.Phe1022Tyr) c.1997T>A (p.Phe666Tyr) c.3077T>A (p.Phe1026Tyr) c.2975T>A (p.Phe992Tyr) c.2249T>A (p.Phe750Tyr) | |
| 12 | g.21844897A>C | CA384118984 | ABCC9 | c.3115T>G (p.Phe1039Val) n.692T>G c.*2213T>G (n.*2213T>G) n.2616T>G c.3064T>G (p.Phe1022Val) c.1996T>G (p.Phe666Val) c.3076T>G (p.Phe1026Val) c.2974T>G (p.Phe992Val) c.2248T>G (p.Phe750Val) | |
| 12 | g.21844897A>G | CA384118990 | ABCC9 | c.3115T>C (p.Phe1039Leu) n.692T>C c.*2213T>C (n.*2213T>C) n.2616T>C c.3064T>C (p.Phe1022Leu) c.1996T>C (p.Phe666Leu) c.3076T>C (p.Phe1026Leu) c.2974T>C (p.Phe992Leu) c.2248T>C (p.Phe750Leu) | |
| 12 | g.21844897A>T | CA384118992 | ABCC9 | c.3115T>A (p.Phe1039Ile) n.692T>A c.*2213T>A (n.*2213T>A) n.2616T>A c.3064T>A (p.Phe1022Ile) c.1996T>A (p.Phe666Ile) c.3076T>A (p.Phe1026Ile) c.2974T>A (p.Phe992Ile) c.2248T>A (p.Phe750Ile) | |
| 12 | g.21844898G>A | CA478870693 | ABCC9 | c.3114C>T (p.Gly1038=) n.691C>T c.*2212C>T (n.*2212C>T) n.2615C>T c.3063C>T (p.Gly1021=) c.1995C>T (p.Gly665=) c.3075C>T (p.Gly1025=) c.2973C>T (p.Gly991=) c.2247C>T (p.Gly749=) | |
| 12 | g.21844898G>C | CA478870695 | ABCC9 | c.3114C>G (p.Gly1038=) n.691C>G c.*2212C>G (n.*2212C>G) n.2615C>G c.3063C>G (p.Gly1021=) c.1995C>G (p.Gly665=) c.3075C>G (p.Gly1025=) c.2973C>G (p.Gly991=) c.2247C>G (p.Gly749=) | |
| 12 | g.21844898G>T | CA478870697 | ABCC9 | c.3114C>A (p.Gly1038=) n.691C>A c.*2212C>A (n.*2212C>A) n.2615C>A c.3063C>A (p.Gly1021=) c.1995C>A (p.Gly665=) c.3075C>A (p.Gly1025=) c.2973C>A (p.Gly991=) c.2247C>A (p.Gly749=) | gnomAD v4 |
| 12 | g.21844899C>A | CA384118995 | ABCC9 | c.3113G>T (p.Gly1038Val) n.690G>T c.*2211G>T (n.*2211G>T) n.2614G>T c.3062G>T (p.Gly1021Val) c.1994G>T (p.Gly665Val) c.3074G>T (p.Gly1025Val) c.2972G>T (p.Gly991Val) c.2246G>T (p.Gly749Val) | |
| 12 | g.21844899C>G | CA384119000 | ABCC9 | c.3113G>C (p.Gly1038Ala) n.690G>C c.*2211G>C (n.*2211G>C) n.2614G>C c.3062G>C (p.Gly1021Ala) c.1994G>C (p.Gly665Ala) c.3074G>C (p.Gly1025Ala) c.2972G>C (p.Gly991Ala) c.2246G>C (p.Gly749Ala) | |
| 12 | g.21844899C>T | CA384119003 | ABCC9 | c.3113G>A (p.Gly1038Asp) n.690G>A c.*2211G>A (n.*2211G>A) n.2614G>A c.3062G>A (p.Gly1021Asp) c.1994G>A (p.Gly665Asp) c.3074G>A (p.Gly1025Asp) c.2972G>A (p.Gly991Asp) c.2246G>A (p.Gly749Asp) | gnomAD v4 |
| 12 | g.21844900C>A | CA384119010 | ABCC9 | c.3112G>T (p.Gly1038Cys) n.689G>T c.*2210G>T (n.*2210G>T) n.2613G>T c.3061G>T (p.Gly1021Cys) c.1993G>T (p.Gly665Cys) c.3073G>T (p.Gly1025Cys) c.2971G>T (p.Gly991Cys) c.2245G>T (p.Gly749Cys) | |
| 12 | g.21844900C>G | CA384119012 | ABCC9 | c.3112G>C (p.Gly1038Arg) n.689G>C c.*2210G>C (n.*2210G>C) n.2613G>C c.3061G>C (p.Gly1021Arg) c.1993G>C (p.Gly665Arg) c.3073G>C (p.Gly1025Arg) c.2971G>C (p.Gly991Arg) c.2245G>C (p.Gly749Arg) | |
| 12 | g.21844900C>T | CA384119013 | ABCC9 | c.3112G>A (p.Gly1038Ser) n.689G>A c.*2210G>A (n.*2210G>A) n.2613G>A c.3061G>A (p.Gly1021Ser) c.1993G>A (p.Gly665Ser) c.3073G>A (p.Gly1025Ser) c.2971G>A (p.Gly991Ser) c.2245G>A (p.Gly749Ser) | |
| 12 | g.21844901A>C | CA478870701 | ABCC9 | c.3111T>G (p.Ala1037=) n.688T>G c.*2209T>G (n.*2209T>G) n.2612T>G c.3060T>G (p.Ala1020=) c.1992T>G (p.Ala664=) c.3072T>G (p.Ala1024=) c.2970T>G (p.Ala990=) c.2244T>G (p.Ala748=) | |
| 12 | g.21844901A>G | CA478870702 | ABCC9 | c.3111T>C (p.Ala1037=) n.688T>C c.*2209T>C (n.*2209T>C) n.2612T>C c.3060T>C (p.Ala1020=) c.1992T>C (p.Ala664=) c.3072T>C (p.Ala1024=) c.2970T>C (p.Ala990=) c.2244T>C (p.Ala748=) | |
| 12 | g.21844901A>T | CA478870704 | ABCC9 | c.3111T>A (p.Ala1037=) n.688T>A c.*2209T>A (n.*2209T>A) n.2612T>A c.3060T>A (p.Ala1020=) c.1992T>A (p.Ala664=) c.3072T>A (p.Ala1024=) c.2970T>A (p.Ala990=) c.2244T>A (p.Ala748=) | |
| 12 | g.21844902G>A | CA6481194 | ABCC9 | c.3110C>T (p.Ala1037Val) n.687C>T c.*2208C>T (n.*2208C>T) n.2611C>T c.3059C>T (p.Ala1020Val) c.1991C>T (p.Ala664Val) c.3071C>T (p.Ala1024Val) c.2969C>T (p.Ala990Val) c.2243C>T (p.Ala748Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21844902G>C | CA384119016 | ABCC9 | c.3110C>G (p.Ala1037Gly) n.687C>G c.*2208C>G (n.*2208C>G) n.2611C>G c.3059C>G (p.Ala1020Gly) c.1991C>G (p.Ala664Gly) c.3071C>G (p.Ala1024Gly) c.2969C>G (p.Ala990Gly) c.2243C>G (p.Ala748Gly) | |
| 12 | g.21844902G= | CA2021314659 | ABCC9 | c.3110C= (p.Ala1037=) n.687C= c.*2208C= (n.*2208C=) n.2611C= c.3059C= (p.Ala1020=) c.1991C= (p.Ala664=) c.3071C= (p.Ala1024=) c.2969C= (p.Ala990=) c.2243C= (p.Ala748=) | |
| 12 | g.21844902G>T | CA384119014 | ABCC9 | c.3110C>A (p.Ala1037Asp) n.687C>A c.*2208C>A (n.*2208C>A) n.2611C>A c.3059C>A (p.Ala1020Asp) c.1991C>A (p.Ala664Asp) c.3071C>A (p.Ala1024Asp) c.2969C>A (p.Ala990Asp) c.2243C>A (p.Ala748Asp) | |
| 12 | g.21844903C>A | CA384119017 | ABCC9 | c.3109G>T (p.Ala1037Ser) n.686G>T c.*2207G>T (n.*2207G>T) n.2610G>T c.3058G>T (p.Ala1020Ser) c.1990G>T (p.Ala664Ser) c.3070G>T (p.Ala1024Ser) c.2968G>T (p.Ala990Ser) c.2242G>T (p.Ala748Ser) | dbSNP |