All transcript variants in gene ELK1

Information The variants shown are described using the NM_005229.4 transcript reference sequence.

54 entries on 1 page. Showing entries 1 - 54.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-145_-143del r.(=) p.(=) g.47509930_47509932del Copied from the Exome Variant Server ELK1_000054 5/5173 1/3456 4/1717
?/? c.-34G>C r.(=) p.(=) g.47500874C>G Copied from the Exome Variant Server ELK1_000053 1/10553 1/6719 0/3834
?/? c.111G>A r.(=) p.(=) g.47500730C>T Copied from the Exome Variant Server ELK1_000052 1/10563 1/6728 0/3835
?/? c.141G>A r.(=) p.(=) g.47500700C>T Copied from the Exome Variant Server ELK1_000051 1054/10563 27/6728 1027/3835
?/? c.189C>T r.(=) p.(=) g.47500652G>A Copied from the Exome Variant Server ELK1_000050 1/10563 0/6728 1/3835
?/? c.210+29C>T r.(=) p.(=) g.47500602G>A Copied from the Exome Variant Server ELK1_000049 76/10563 0/6728 76/3835
?/? c.210+33C>T r.(=) p.(=) g.47500598G>A Copied from the Exome Variant Server ELK1_000048 1/10563 1/6728 0/3835
?/? c.210+34C>G r.(=) p.(=) g.47500597G>C Copied from the Exome Variant Server ELK1_000047 6/10563 6/6728 0/3835
?/? c.210+35del r.(=) p.(=) g.47500596del Copied from the Exome Variant Server ELK1_000046 35/10205 8/6484 27/3721
?/? c.210+35dup r.(=) p.(=) g.47500596dup Copied from the Exome Variant Server ELK1_000045 67/10205 26/6484 41/3721
?/? c.210+36del r.(=) p.(=) g.47500595del Copied from the Exome Variant Server ELK1_000044 21/10205 1/6484 20/3721
?/? c.210+46A>G r.(=) p.(=) g.47500585T>C Copied from the Exome Variant Server ELK1_000043 1/10563 1/6728 0/3835
?/? c.234C>G r.(=) p.(=) g.47498714G>C Copied from the Exome Variant Server ELK1_000042 5/10563 5/6728 0/3835
?/? c.299C>T r.(?) p.(Pro100Leu) g.47498649G>A Copied from the Exome Variant Server ELK1_000041 1/10562 1/6728 0/3834
?/? c.363C>T r.(=) p.(=) g.47498585G>A Copied from the Exome Variant Server ELK1_000039 1/10563 0/6728 1/3835
?/? c.398C>T r.(?) p.(Thr133Ile) g.47498550G>A Copied from the Exome Variant Server ELK1_000037 1/10561 0/6727 1/3834
?/? c.429C>T r.(=) p.(=) g.47498519G>A Copied from the Exome Variant Server ELK1_000035 18/10559 0/6726 18/3833
?/? c.430G>A r.(?) p.(Gly144Ser) g.47498518C>T Copied from the Exome Variant Server ELK1_000040 87/10560 2/6726 85/3834
?/? c.441C>T r.(=) p.(=) g.47498507G>A Copied from the Exome Variant Server ELK1_000038 1/10553 0/6724 1/3829
?/? c.465C>G r.(=) p.(=) g.47498483G>C Copied from the Exome Variant Server ELK1_000036 5/10556 5/6724 0/3832
?/? c.501G>A r.(=) p.(=) g.47498447C>T Copied from the Exome Variant Server ELK1_000034 2/10520 0/6695 2/3825
?/? c.506C>T r.(?) p.(Pro169Leu) g.47498442G>A Copied from the Exome Variant Server ELK1_000033 1/10512 1/6690 0/3822
?/? c.514C>G r.(?) p.(Pro172Ala) g.47498434G>C Copied from the Exome Variant Server ELK1_000032 63/10527 3/6705 60/3822
?/? c.541C>T r.(?) p.(Leu181Phe) g.47498407G>A Copied from the Exome Variant Server ELK1_000031 1/10547 1/6717 0/3830
?/? c.544C>T r.(?) p.(Pro182Ser) g.47498404G>A Copied from the Exome Variant Server ELK1_000030 1/10548 0/6719 1/3829
?/? c.548G>A r.(?) p.(Ser183Asn) g.47498400C>T Copied from the Exome Variant Server ELK1_000029 1377/10549 28/6719 1349/3830
?/? c.576C>G r.(=) p.(=) g.47498372G>C Copied from the Exome Variant Server ELK1_000028 2/10541 2/6713 0/3828
?/? c.627G>T r.(?) p.(Glu209Asp) g.47498321C>A Copied from the Exome Variant Server ELK1_000027 1/10479 1/6667 0/3812
?/? c.653A>G r.(?) p.(Gln218Arg) g.47498295T>C Copied from the Exome Variant Server ELK1_000026 2/10344 0/6581 2/3763
?/? c.654+15A>G r.(=) p.(=) g.47498279T>C Copied from the Exome Variant Server ELK1_000025 81/10316 0/6565 81/3751
?/? c.654+27_654+28insT r.(=) p.(=) g.47498266_47498267insA Copied from the Exome Variant Server ELK1_000024 1/9881 1/6261 0/3620
?/? c.654+47G>A r.(=) p.(=) g.47498247C>T Copied from the Exome Variant Server ELK1_000023 3/10159 0/6469 3/3690
?/? c.669G>A r.(=) p.(=) g.47497567C>T Copied from the Exome Variant Server ELK1_000022 5/10235 4/6484 1/3751
?/? c.672C>A r.(=) p.(=) g.47497564G>T Copied from the Exome Variant Server ELK1_000021 55/10247 52/6491 3/3756
?/? c.713C>T r.(?) p.(Pro238Leu) g.47497523G>A Copied from the Exome Variant Server ELK1_000020 2/10397 0/6608 2/3789
?/? c.724C>T r.(?) p.(Arg242Trp) g.47497512G>A Copied from the Exome Variant Server ELK1_000019 1/10424 0/6630 1/3794
?/? c.725G>A r.(?) p.(Arg242Gln) g.47497511C>T Copied from the Exome Variant Server ELK1_000018 2/10453 0/6651 2/3802
?/? c.780G>A r.(=) p.(=) g.47497456C>T Copied from the Exome Variant Server ELK1_000017 3/10521 3/6699 0/3822
?/? c.828C>T r.(=) p.(=) g.47497408G>A Copied from the Exome Variant Server ELK1_000016 3/10492 0/6672 3/3820
?/? c.844G>A r.(?) p.(Val282Met) g.47497392C>T Copied from the Exome Variant Server ELK1_000015 1/10433 1/6637 0/3796
?/? c.863C>T r.(?) p.(Ala288Val) g.47497373G>A Copied from the Exome Variant Server ELK1_000014 1/10112 0/6486 1/3626
?/? c.870T>C r.(=) p.(=) g.47497366A>G Copied from the Exome Variant Server ELK1_000013 2/10044 2/6446 0/3598
?/? c.893_894insGGG r.(?) p.(Gly299dup) g.47497342_47497343insCCC Copied from the Exome Variant Server ELK1_000012 73/8132 48/5308 25/2824
?/? c.972C>T r.(=) p.(=) g.47497264G>A Copied from the Exome Variant Server ELK1_000011 1/10160 1/6476 0/3684
?/? c.1053G>A r.(=) p.(=) g.47497183C>T Copied from the Exome Variant Server ELK1_000010 1/10341 1/6586 0/3755
?/? c.1157C>T r.(?) p.(Ala386Val) g.47496443G>A Copied from the Exome Variant Server ELK1_000009 1/10560 1/6727 0/3833
?/? c.1158G>A r.(=) p.(=) g.47496442C>T Copied from the Exome Variant Server ELK1_000008 65/10560 3/6727 62/3833
?/? c.1170G>A r.(=) p.(=) g.47496430C>T Copied from the Exome Variant Server ELK1_000007 4/10560 0/6727 4/3833
?/? c.1188+18C>T r.(=) p.(=) g.47496394G>A Copied from the Exome Variant Server ELK1_000006 2/10561 0/6727 2/3834
?/? c.1188+26A>T r.(=) p.(=) g.47496386T>A Copied from the Exome Variant Server ELK1_000005 2/10557 0/6724 2/3833
?/? c.1189-19T>C r.(=) p.(=) g.47496345A>G Copied from the Exome Variant Server ELK1_000004 2/10530 2/6705 0/3825
?/? c.1254C>T r.(=) p.(=) g.47496261G>A Copied from the Exome Variant Server ELK1_000003 37/10430 0/6633 37/3797
?/? c.*21_*23del r.(=) p.(=) g.47496205_47496207del Copied from the Exome Variant Server ELK1_000002 196/9329 124/5902 72/3427
?/? c.*21_*23dup r.(=) p.(=) g.47496205_47496207dup Copied from the Exome Variant Server ELK1_000001 3/9329 3/5902 0/3427
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