COSMIC:
COSM4406859 (not active)
Revel Score:
ENST00000369408
0.093
ENST00000339746 (MANE Select)
0.093
ENST00000447838
0.093
ENST00000465722
0.093
ENST00000522441
0.093
ENST00000485637
0.093
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.91977313 (EAS)
Genomes Max Group AF
0.88720219 (EAS)
Exomes Max Group AF
0.92174186 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.89606070A>G , CM000668.2:g.89606070A>G | GRCh38 |
| NC_000006.11:g.90315789A>G , CM000668.1:g.90315789A>G | GRCh37 |
| NC_000006.10:g.90372508A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710308.1:c.457A>G (ANKRD6) | ENSP00000518190.1:p.Ile153Val | |
| ENST00000339746.9:c.382A>G (ANKRD6) MANE Select | ENSP00000345767.4:p.Ile128Val | |
| ENST00000339746.8:c.382A>G (ANKRD6) | ENSP00000345767.4:p.Ile128Val | |
| ENST00000369408.9:c.382A>G (ANKRD6) | ENSP00000358416.5:p.Ile128Val | |
| ENST00000412237.6:c.*118-2961T>C (LYRM2) | ENSP00000430316.1:n.*118-2961T>C | |
| ENST00000447838.6:c.382A>G (ANKRD6) | ENSP00000396771.2:p.Ile128Val | |
| ENST00000465722.6:c.382A>G (ANKRD6) | ENSP00000429431.1:p.Ile128Val | |
| ENST00000485637.5:c.382A>G (ANKRD6) | ENSP00000430954.1:p.Ile128Val | |
| ENST00000518150.5:c.121-17340A>G (ANKRD6) | ENSP00000429235.1:n.121-17340A>G | |
| ENST00000518253.5:n.199A>G (ANKRD6) | ||
| ENST00000520793.5:c.318+2943A>G (ANKRD6) | ENSP00000429782.1:n.318+2943A>G | |
| ENST00000520886.6:n.434A>G (ANKRD6) | ||
| ENST00000520897.5:n.562+15651T>C (LYRM2) | ||
| ENST00000522441.5:c.382A>G (ANKRD6) | ENSP00000430985.1:p.Ile128Val | |
| ENST00000626778.2:c.414+15651T>C (LYRM2) | ENSP00000486073.1:n.414+15651T>C | |
| NM_001242809.1:c.382A>G (ANKRD6) | NP_001229738.1:p.Ile128Val | |
| NM_001242811.1:c.382A>G (ANKRD6) | NP_001229740.1:p.Ile128Val | |
| NM_001242813.1:c.382A>G (ANKRD6) | NP_001229742.1:p.Ile128Val | |
| NM_001242814.1:c.318+2943A>G (ANKRD6) | NP_001229743.1:n.318+2943A>G | |
| NM_014942.4:c.382A>G (ANKRD6) | NP_055757.3:p.Ile128Val | |
| XM_005248679.2:c.457A>G (ANKRD6) | XP_005248736.1:p.Ile153Val | |
| XM_005248680.2:c.457A>G (ANKRD6) | XP_005248737.1:p.Ile153Val | |
| XM_005248681.1:c.382A>G (ANKRD6) | XP_005248738.1:p.Ile128Val | |
| XM_005248682.2:c.457A>G (ANKRD6) | XP_005248739.1:p.Ile153Val | |
| XM_005248683.2:c.457A>G (ANKRD6) | XP_005248740.1:p.Ile153Val | |
| XM_005248684.2:c.457A>G (ANKRD6) | XP_005248741.1:p.Ile153Val | |
| XM_011535595.1:c.382A>G (ANKRD6) | XP_011533897.1:p.Ile128Val | |
| XM_011535596.1:c.457A>G (ANKRD6) | XP_011533898.1:p.Ile153Val | |
| XM_011535597.1:c.393+2943A>G (ANKRD6) | XP_011533899.1:n.393+2943A>G | |
| XM_011535598.1:c.283A>G (ANKRD6) | XP_011533900.1:p.Ile95Val | |
| XM_011535599.1:c.318+2943A>G (ANKRD6) | XP_011533901.1:n.318+2943A>G | |
| XM_011535600.1:c.318+2943A>G (ANKRD6) | XP_011533902.1:n.318+2943A>G | |
| XM_011535601.1:c.457A>G (ANKRD6) | XP_011533903.1:p.Ile153Val | |
| XM_005248679.3:c.457A>G (ANKRD6) | XP_005248736.1:p.Ile153Val | |
| XM_005248680.3:c.457A>G (ANKRD6) | XP_005248737.1:p.Ile153Val | |
| XM_005248681.2:c.382A>G (ANKRD6) | XP_005248738.1:p.Ile128Val | |
| XM_005248682.3:c.457A>G (ANKRD6) | XP_005248739.1:p.Ile153Val | |
| XM_005248683.3:c.457A>G (ANKRD6) | XP_005248740.1:p.Ile153Val | |
| XM_005248684.3:c.457A>G (ANKRD6) | XP_005248741.1:p.Ile153Val | |
| XM_011535596.2:c.457A>G (ANKRD6) | XP_011533898.1:p.Ile153Val | |
| XM_011535597.2:c.393+2943A>G (ANKRD6) | XP_011533899.1:n.393+2943A>G | |
| XM_011535598.2:c.283A>G (ANKRD6) | XP_011533900.1:p.Ile95Val | |
| XM_011535599.2:c.318+2943A>G (ANKRD6) | XP_011533901.1:n.318+2943A>G | |
| XM_011535600.2:c.318+2943A>G (ANKRD6) | XP_011533902.1:n.318+2943A>G | |
| XM_017010493.1:c.457A>G (ANKRD6) | XP_016865982.1:p.Ile153Val | |
| XM_017010494.1:c.457A>G (ANKRD6) | XP_016865983.1:p.Ile153Val | |
| XM_017010495.1:c.382A>G (ANKRD6) | XP_016865984.1:p.Ile128Val | |
| XM_017010496.2:c.283A>G (ANKRD6) | XP_016865985.1:p.Ile95Val | |
| XM_017010498.1:c.382A>G (ANKRD6) | XP_016865987.1:p.Ile128Val | |
| XM_017010499.1:c.457A>G (ANKRD6) | XP_016865988.1:p.Ile153Val | |
| XM_017010500.1:c.457A>G (ANKRD6) | XP_016865989.1:p.Ile153Val | |
| XM_017010501.1:c.382A>G (ANKRD6) | XP_016865990.1:p.Ile128Val | |
| XM_017010502.2:c.283A>G (ANKRD6) | XP_016865991.1:p.Ile95Val | |
| XM_017010503.1:c.219+2943A>G (ANKRD6) | XP_016865992.1:n.219+2943A>G | |
| XM_017010505.1:c.318+2943A>G (ANKRD6) | XP_016865994.1:n.318+2943A>G | |
| XM_017010508.1:c.283A>G (ANKRD6) | XP_016865997.1:p.Ile95Val | |
| XM_017010510.1:c.283A>G (ANKRD6) | XP_016865999.1:p.Ile95Val | |
| XM_017010511.2:c.283A>G (ANKRD6) | XP_016866000.1:p.Ile95Val | |
| XM_017010512.1:c.382A>G (ANKRD6) | XP_016866001.1:p.Ile128Val | |
| XM_017010513.1:c.382A>G (ANKRD6) | XP_016866002.1:p.Ile128Val | |
| XM_017010514.1:c.283A>G (ANKRD6) | XP_016866003.1:p.Ile95Val | |
| XM_017010515.2:c.-404A>G (ANKRD6) | XP_016866004.1:n.-404A>G | |
| XM_024446357.1:c.382A>G (ANKRD6) | XP_024302125.1:p.Ile128Val | |
| XM_024446358.1:c.382A>G (ANKRD6) | XP_024302126.1:p.Ile128Val | |
| XM_024446359.1:c.382A>G (ANKRD6) | XP_024302127.1:p.Ile128Val | |
| XM_024446360.1:c.382A>G (ANKRD6) | XP_024302128.1:p.Ile128Val | |
| XM_024446361.1:c.382A>G (ANKRD6) | XP_024302129.1:p.Ile128Val | |
| XM_024446362.1:c.382A>G (ANKRD6) | XP_024302130.1:p.Ile128Val | |
| XM_024446363.1:c.382A>G (ANKRD6) | XP_024302131.1:p.Ile128Val | |
| XM_024446364.1:c.382A>G (ANKRD6) | XP_024302132.1:p.Ile128Val | |
| XM_024446365.1:c.318+2943A>G (ANKRD6) | XP_024302133.1:n.318+2943A>G | |
| XM_024446366.1:c.382A>G (ANKRD6) | XP_024302134.1:p.Ile128Val | |
| XM_024446368.1:c.382A>G (ANKRD6) | XP_024302136.1:p.Ile128Val | |
| NM_001242809.2:c.382A>G (ANKRD6) MANE Select | NP_001229738.1:p.Ile128Val |