All transcript variants in gene A1BG-AS1

Information The variants shown are described using the NR_015380.1 transcript reference sequence.

59 entries on 1 page. Showing entries 1 - 59.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? n.338C>T r.(?) p.(Ala197Thr) g.58863673C>T Copied from the Exome Variant Server A1BG_000058 1/13006 1/8600 0/4406
?/? n.357G>A r.(=) p.(=) g.58863692G>A Copied from the Exome Variant Server A1BG_000059 1/13006 0/8600 1/4406
?/? n.362C>G r.(?) p.(Glu189Gln) g.58863697C>G Copied from the Exome Variant Server A1BG_000060 1/13006 0/8600 1/4406
?/? n.399C>T r.(=) p.(=) g.58863734C>T Copied from the Exome Variant Server A1BG_000061 1/13006 0/8600 1/4406
?/? n.418G>A r.(?) p.(Ala170Val) g.58863753G>A Copied from the Exome Variant Server A1BG_000062 46/13006 0/8600 46/4406
?/? n.473G>A r.(?) p.(Arg152Trp) g.58863808G>A Copied from the Exome Variant Server A1BG_000063 1/13006 0/8600 1/4406
?/? n.496C>T r.(?) p.(Arg144Gln) g.58863831C>T Copied from the Exome Variant Server A1BG_000064 2/13006 0/8600 2/4406
?/? n.497G>A r.(?) p.(Arg144Trp) g.58863832G>A Copied from the Exome Variant Server A1BG_000065 1/13006 1/8600 0/4406
?/? n.508C>T r.(?) p.(Arg140Gln) g.58863843C>T Copied from the Exome Variant Server A1BG_000066 12/13006 1/8600 11/4406
?/? n.525T>C r.(=) p.(=) g.58863860T>C Copied from the Exome Variant Server A1BG_000067 2/13006 2/8600 0/4406
?/? n.534G>A r.(=) p.(=) g.58863869G>A Copied from the Exome Variant Server A1BG_000068 3/13004 0/8598 3/4406
?/? n.535G>A r.(?) p.(Pro131Leu) g.58863870G>A Copied from the Exome Variant Server A1BG_000069 1/13004 0/8598 1/4406
?/? n.559_560insT r.(?) p.(Met123Asnfs*35) g.58863894_58863895insT Copied from the Exome Variant Server A1BG_000070 2/12512 1/8250 1/4262
?/? n.561C>T r.(=) p.(=) g.58863896C>T Copied from the Exome Variant Server A1BG_000071 1/13000 0/8596 1/4404
?/? n.562G>A r.(?) p.(Ser122Leu) g.58863897G>A Copied from the Exome Variant Server A1BG_000072 1/12998 1/8594 0/4404
?/? n.598G>A N/A N/A g.58863933G>A Copied from the Exome Variant Server A1BG_000073 2/12972 2/8576 0/4396
?/? n.975C>T r.(=) p.(=) g.58864310C>T Copied from the Exome Variant Server A1BG_000074 1/13006 1/8600 0/4406
?/? n.990C>T r.(=) p.(=) g.58864325C>T Copied from the Exome Variant Server A1BG_000075 1/13006 0/8600 1/4406
?/? n.1014C>T r.(=) p.(=) g.58864349C>T Copied from the Exome Variant Server A1BG_000076 2/13006 1/8600 1/4406
?/? n.1016A>G r.(?) p.(Ser95Pro) g.58864351A>G Copied from the Exome Variant Server A1BG_000077 1/13006 1/8600 0/4406
?/? n.1024C>T r.(?) p.(Arg92His) g.58864359C>T Copied from the Exome Variant Server A1BG_000078 3/13006 0/8600 3/4406
?/? n.1030C>T r.(?) p.(Arg90His) g.58864365C>T Copied from the Exome Variant Server A1BG_000079 1/13006 1/8600 0/4406
?/? n.1031G>A r.(?) p.(Arg90Cys) g.58864366G>A Copied from the Exome Variant Server A1BG_000080 3/13006 0/8600 3/4406
?/? n.1033C>T r.(?) p.(Gly89Asp) g.58864368C>T Copied from the Exome Variant Server A1BG_000081 1/13006 0/8600 1/4406
?/? n.1048G>A r.(?) p.(Thr84Met) g.58864383G>A Copied from the Exome Variant Server A1BG_000082 1/13006 0/8600 1/4406
?/? n.1075+28C>T r.(?) p.(Ala66Thr) g.58864438C>T Copied from the Exome Variant Server A1BG_000083 1/13006 1/8600 0/4406
?/? n.1075+66A>G r.(?) p.(Leu53Pro) g.58864476A>G Copied from the Exome Variant Server A1BG_000084 4/13006 4/8600 0/4406
?/? n.1075+69T>C r.(?) p.(His52Arg) g.58864479T>C Copied from the Exome Variant Server A1BG_000085 11595/13006 8186/8600 3409/4406
?/? n.1075+70G>A r.(?) p.(His52Tyr) g.58864480G>A Copied from the Exome Variant Server A1BG_000086 1/13006 1/8600 0/4406
?/? n.1075+81G>A r.(?) p.(Thr48Met) g.58864491G>A Copied from the Exome Variant Server A1BG_000087 3/13006 0/8600 3/4406
?/? n.1075+95G>A r.(=) p.(=) g.58864505G>A Copied from the Exome Variant Server A1BG_000088 1/13006 0/8600 1/4406
?/? n.1075+112G>C r.(?) p.(Leu38Val) g.58864522G>C Copied from the Exome Variant Server A1BG_000089 1/13006 0/8600 1/4406
?/? n.1075+118C>T r.(?) p.(Glu36Lys) g.58864528C>T Copied from the Exome Variant Server A1BG_000090 2/13006 0/8600 2/4406
?/? n.1075+142G>A r.(?) p.(Gln28*) g.58864552G>A Copied from the Exome Variant Server A1BG_000091 1/13006 1/8600 0/4406
?/? n.1076-149A>G r.(=) p.(=) g.58864596A>G Copied from the Exome Variant Server A1BG_000092 2/13006 0/8600 2/4406
?/? n.1076-147A>G r.(=) p.(=) g.58864598A>G Copied from the Exome Variant Server A1BG_000093 11/13006 0/8600 11/4406
?/? n.1076-146G>A r.(=) p.(=) g.58864599G>A Copied from the Exome Variant Server A1BG_000094 1/13006 1/8600 0/4406
?/? n.1076-135del r.(=) p.(=) g.58864610del Copied from the Exome Variant Server A1BG_000095 65/12516 12/8252 53/4264
?/? n.1076-131C>A r.(=) p.(=) g.58864614C>A Copied from the Exome Variant Server A1BG_000096 27/13006 0/8600 27/4406
?/? n.1076-128G>C r.(=) p.(=) g.58864617G>C Copied from the Exome Variant Server A1BG_000097 17/13006 0/8600 17/4406
?/? n.1076-90_1076-89del r.(=) p.(=) g.58864655_58864656del Copied from the Exome Variant Server A1BG_000098 44/12514 30/8252 14/4262
?/? n.1076-85_1076-83del r.(?) p.(Ile23del) g.58864660_58864662del Copied from the Exome Variant Server A1BG_000099 2/12516 0/8252 2/4264
?/? n.1076-38C>A r.(=) p.(=) g.58864707C>A Copied from the Exome Variant Server A1BG_000100 1/12988 1/8592 0/4396
?/? n.1076-37C>A r.(=) p.(=) g.58864708C>A Copied from the Exome Variant Server A1BG_000101 11/12988 9/8592 2/4396
?/? n.1076-34G>A r.(=) p.(=) g.58864711G>A Copied from the Exome Variant Server A1BG_000102 2/12984 2/8590 0/4394
?/? n.1076-18C>T r.(=) p.(=) g.58864727C>T Copied from the Exome Variant Server A1BG_000103 1/12994 1/8592 0/4402
?/? n.1076-16C>T r.(=) p.(=) g.58864729C>T Copied from the Exome Variant Server A1BG_000104 1/12992 1/8592 0/4400
?/? n.1087C>G N/A N/A g.58864756C>G Copied from the Exome Variant Server A1BG_000105 19/12994 0/8594 19/4400
?/? n.1097T>C N/A N/A g.58864766T>C Copied from the Exome Variant Server A1BG_000106 1/12996 1/8594 0/4402
?/? n.1107G>A r.(=) p.(=) g.58864776G>A Copied from the Exome Variant Server A1BG_000107 2/13000 0/8598 2/4402
?/? n.1113G>T r.(?) p.(Leu8Ile) g.58864782G>T Copied from the Exome Variant Server A1BG_000109 1/13004 1/8598 0/4406
?/? n.1123G>A r.(=) p.(=) g.58864792G>A Copied from the Exome Variant Server A1BG_000110 2/13004 2/8600 0/4404
?/? n.1141C>T r.(=) p.(=) g.58864810C>T Copied from the Exome Variant Server A1BG_000111 31/12998 28/8596 3/4402
?/? n.1142G>A r.(=) p.(=) g.58864811G>A Copied from the Exome Variant Server A1BG_000112 1/12998 0/8596 1/4402
?/? n.1144G>A r.(=) p.(=) g.58864813G>A Copied from the Exome Variant Server A1BG_000113 1/12998 1/8596 0/4402
?/? n.1162A>T r.(=) p.(=) g.58864831A>T Copied from the Exome Variant Server A1BG_000114 2/12990 2/8590 0/4400
?/? n.1171+7G>A r.(=) p.(=) g.58864847G>A Copied from the Exome Variant Server A1BG_000108 4/12982 4/8588 0/4394
?/? n.1171+27A>G r.(=) p.(=) g.58864867A>G Copied from the Exome Variant Server A1BG-AS1_000001 4179/4566 3035/3182 1144/1384
?/? n.1171+39_1171+40insG r.(=) p.(=) g.58864879_58864880insG Copied from the Exome Variant Server A1BG-AS1_000002 10827/12158 7515/8034 3312/4124
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