All transcript variants in gene KIF5A

Information The variants shown are described using the NM_004984.2 transcript reference sequence.

58 entries on 1 page. Showing entries 1 - 58.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Allele Count     

Allele Number     

Combined Depth     

Heterozygote     

Homozygous     

Owner     
./. - c.218-39C>G r.(=) p.(=) g.57957364C>G - KIF5A_000001 rs771868566 0.001938 1 516 9614 - - Admin
./. - c.292-173A>G r.(=) p.(=) g.57957718A>G - KIF5A_000002 rs114419475 0.003906 2 512 2559 - - Admin
./. - c.292-170G>A r.(=) p.(=) g.57957721G>A - KIF5A_000003 rs115447581 0.005814 3 516 2674 - - Admin
./. - c.292-42C>T r.(=) p.(=) g.57957849C>T - KIF5A_000004 rs148481427 0.005814 3 516 8500 - - Admin
./. - c.341G>A r.(?) p.(Arg114Gln) g.57957940G>A - KIF5A_000005 rs144277716 0.001938 1 516 8916 - - Admin
./. - c.396+14G>A r.(=) p.(=) g.57958009G>A - KIF5A_000006 rs17119769 0.003876 2 516 6245 - - Admin
./. - c.397-19_397-17del r.(=) p.(=) g.57958224_57958226del - KIF5A_000007 rs375316447 0.003876 2 516 6245 - - Admin
./. - c.445+22A>G r.(=) p.(=) g.57958313A>G - KIF5A_000008 rs775322 0.384 198 516 3817 - - Admin
./. - c.445+73A>G r.(=) p.(=) g.57958364A>G - KIF5A_000009 rs75527218 0.019 10 516 2848 - - Admin
./. - c.501+43A>C r.(=) p.(=) g.57958799A>C - KIF5A_000010 rs77884162 0.00969 5 516 8267 - - Admin
./. - c.502-59A>G r.(=) p.(=) g.57960850A>G - KIF5A_000013 rs117149568 0.007752 4 516 3311 - - Admin
./. - c.590-109G>A r.(=) p.(=) g.57961168G>A - KIF5A_000015 rs12426997 0.027 14 512 2033 - - Admin
./. - c.714+8G>A r.(=) p.(=) g.57961409G>A - KIF5A_000017 rs199624091 0.007752 4 516 5001 - - Admin
./. - c.819+94G>C r.(=) p.(=) g.57962944G>C - KIF5A_000019 rs2620678 0.016 8 516 4689 - - Admin
./. - c.820-82C>T r.(=) p.(=) g.57962957C>T - KIF5A_000021 rs116892071 0.003876 2 516 4560 - - Admin
./. - c.820-58G>T r.(=) p.(=) g.57962981G>T - KIF5A_000023 rs112870621 0.001938 1 516 4714 - - Admin
./. - c.820-19G>T r.(=) p.(=) g.57963020G>T - KIF5A_000025 rs181688415 0.005814 3 516 5684 - - Admin
./. - c.1117+13T>C r.(=) p.(=) g.57963479T>C - KIF5A_000027 - 0.001938 1 516 2449 1 0 Admin
./. - c.1118-70G>A r.(=) p.(=) g.57963700G>A - KIF5A_000028 rs11609196 0.003876 2 516 5572 - - Admin
./. - c.1176G>A r.(=) p.(=) g.57963828G>A - KIF5A_000030 rs75907338 0.003876 2 516 7314 - - Admin
./. - c.1293+9G>A r.(=) p.(=) g.57963954G>A - KIF5A_000033 rs201749114 0.003876 2 516 3398 - - Admin
./. - c.1294-204G>C r.(=) p.(=) g.57964900G>C - KIF5A_000035 rs149194626 0.014 7 502 1138 - - Admin
./. - c.1294-173T>C r.(=) p.(=) g.57964931T>C - KIF5A_000036 rs143272215 0.007813 4 512 1624 - - Admin
./. - c.1294-148C>A r.(=) p.(=) g.57964956C>A - KIF5A_000038 rs186409784 0.005837 3 514 2353 - - Admin
./. - c.1294-147G>A r.(=) p.(=) g.57964957G>A - KIF5A_000011 rs922385449 0.005837 3 514 2416 3 0 Admin
./. - c.1569+21C>G r.(=) p.(=) g.57966071C>G - KIF5A_000012 rs114115696 0.005814 3 516 8284 - - Admin
./. - c.1569+119G>A r.(=) p.(=) g.57966169G>A - KIF5A_000014 rs111481780 0.007752 4 516 3961 - - Admin
./. - c.1717-129G>A r.(=) p.(=) g.57968738G>A - KIF5A_000016 rs11172254 0.514 255 496 1506 - - Admin
./. - c.1717-81A>T r.(=) p.(=) g.57968786A>T - KIF5A_000018 rs1216419689 0.001938 1 516 2609 1 0 Admin
./. - c.2023+18C>T r.(=) p.(=) g.57969558C>T - KIF5A_000020 rs192960012 0.007752 4 516 6818 - - Admin
./. - c.2152C>G r.(?) p.(Arg718Gly) g.57970115C>G - KIF5A_000022 - 0.001938 1 516 7705 1 0 Admin
./. - c.2198+189G>T r.(=) p.(=) g.57970350G>T - KIF5A_000024 rs115809275 0.003876 2 516 2566 - - Admin
./. - c.2198+190A>T r.(=) p.(=) g.57970351A>T - KIF5A_000026 rs114284372 0.003876 2 516 2595 - - Admin
./. - c.2271C>T r.(=) p.(=) g.57970616C>T - KIF5A_000029 rs374554951 0.001938 1 516 7590 - - Admin
./. - c.2412C>T r.(=) p.(=) g.57971842C>T - KIF5A_000031 rs145062338 0.001938 1 516 6746 - - Admin
./. - c.2539-69G>A r.(=) p.(=) g.57974670G>A - KIF5A_000032 rs775245 0.091 47 516 3655 - - Admin
./. - c.2756-80A>G r.(=) p.(=) g.57975118A>G - KIF5A_000034 rs908228394 0.001938 1 516 3495 1 0 Admin
./. - c.2756-43A>C r.(=) p.(=) g.57975155A>C - KIF5A_000037 rs775246 0.252 130 516 5601 - - Admin
./. - c.2769G>A r.(=) p.(=) g.57975211G>A - KIF5A_000039 rs35225609 0.00969 5 516 8780 - - Admin
./. - c.2803C>T r.(?) p.(Pro935Ser) g.57975245C>T - KIF5A_000040 rs764612223 0.001938 1 516 9087 - - Admin
./. - c.2910-83A>G r.(=) p.(=) g.57975570A>G - KIF5A_000041 rs775247 0.998 493 494 1875 - - Admin
./. - c.2957C>T r.(?) p.(Pro986Leu) g.57975700C>T - KIF5A_000042 rs113247976 0.005814 3 516 5133 - - Admin
./. - c.2992+100C>A r.(=) p.(=) g.57975835C>A - KIF5A_000043 rs111792924 0.007752 4 516 3570 - - Admin
./. - c.2992+118G>T r.(=) p.(=) g.57975853G>T - KIF5A_000044 rs144378635 0.003876 2 516 2707 - - Admin
./. - c.2992+127del r.(=) p.(=) g.57975862del - KIF5A_000045 rs1013090932 0.001938 1 516 3495 1 0 Admin
./. - c.2992+175C>G r.(=) p.(=) g.57975910C>G - KIF5A_000046 rs775248 0.181 88 486 1058 - - Admin
./. - c.2992+182C>A r.(=) p.(=) g.57975917C>A - KIF5A_000047 rs548734327 0.002033 1 492 920 - - Admin
./. - c.2993-133T>A r.(=) p.(=) g.57976252T>A - KIF5A_000048 rs1024675493 0.003876 2 516 3370 2 0 Admin
./. - c.2993-72G>A r.(=) p.(=) g.57976313G>A - KIF5A_000049 rs2291137 0.003876 2 516 4121 - - Admin
./. - c.3021-55T>C r.(=) p.(=) g.57976829T>C - KIF5A_000050 rs189141503 0.012 6 516 6213 - - Admin
./. - c.*36+5C>T r.spl? p.? g.57977003C>T - KIF5A_000051 rs775249 0.252 130 516 4270 - - Admin
./. - c.*36+30C>T r.(=) p.(=) g.57977028C>T - KIF5A_000052 rs111614819 0.003891 2 514 2702 - - Admin
./. - c.*36+42C>A r.(=) p.(=) g.57977040C>A - KIF5A_000053 rs775250 0.228 116 508 2137 - - Admin
./. - c.*942G>T r.(=) p.(=) g.57978906G>T - KIF5A_000054 rs1232111542 0.006977 3 430 1171 3 0 Admin
./. - c.*1110_*1111insT r.(=) p.(=) g.57979074_57979075insT - KIF5A_000055 rs11394212 - - - - - - Admin
./. - c.*1226C>G r.(=) p.(=) g.57979190C>G - KIF5A_000056 rs1678536 0.254 131 516 9094 - - Admin
./. - c.*1286A>G r.(=) p.(=) g.57979250A>G - KIF5A_000057 - 0.001938 1 516 8644 1 0 Admin
./. - c.*1295T>C r.(=) p.(=) g.57979259T>C - KIF5A_000058 rs1423781681 0.001938 1 516 8555 1 0 Admin
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