Revel Score:
ENST00000369408
0.116
ENST00000339746 (MANE Select)
0.116
ENST00000447838
0.116
ENST00000522441
0.116
ENST00000520793
0.116
ENST00000492158
0.072
gnomAD v2:
gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.89630468G>T , CM000668.2:g.89630468G>T | GRCh38 |
| NC_000006.11:g.90340187G>T , CM000668.1:g.90340187G>T | GRCh37 |
| NC_000006.10:g.90396908G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710308.1:c.1723G>T (ANKRD6) | ENSP00000518190.1:p.Ala575Ser | |
| ENST00000339746.9:c.1648G>T (ANKRD6) MANE Select | ENSP00000345767.4:p.Ala550Ser | |
| ENST00000339746.8:c.1648G>T (ANKRD6) | ENSP00000345767.4:p.Ala550Ser | |
| ENST00000369408.9:c.1543G>T (ANKRD6) | ENSP00000358416.5:p.Ala515Ser | |
| ENST00000412237.6:c.186+7274C>A (LYRM2) | ENSP00000430316.1:n.186+7274C>A | |
| ENST00000415924.6:n.1564G>T (ANKRD6) | ||
| ENST00000447838.6:c.1633G>T (ANKRD6) | ENSP00000396771.2:p.Ala545Ser | |
| ENST00000479572.1:n.992G>T (ANKRD6) | ||
| ENST00000492158.5:c.368G>T (ANKRD6) | ||
| ENST00000518253.5:n.1465G>T (ANKRD6) | ||
| ENST00000520441.5:c.203+7257C>A (LYRM2) | ENSP00000427859.1:n.203+7257C>A | |
| ENST00000520793.5:c.1456G>T (ANKRD6) | ENSP00000429782.1:p.Ala486Ser | |
| ENST00000520897.5:n.221-5866C>A (LYRM2) | ||
| ENST00000521240.1:n.493G>T (ANKRD6) | ||
| ENST00000522441.5:c.1648G>T (ANKRD6) | ENSP00000430985.1:p.Ala550Ser | |
| ENST00000523793.5:n.368-5866C>A (LYRM2) | ||
| ENST00000626778.2:c.186+7274C>A (LYRM2) | ENSP00000486073.1:n.186+7274C>A | |
| NM_001242809.1:c.1648G>T (ANKRD6) | NP_001229738.1:p.Ala550Ser | |
| NM_001242811.1:c.1648G>T (ANKRD6) | NP_001229740.1:p.Ala550Ser | |
| NM_001242813.1:c.1543G>T (ANKRD6) | NP_001229742.1:p.Ala515Ser | |
| NM_001242814.1:c.1456G>T (ANKRD6) | NP_001229743.1:p.Ala486Ser | |
| NM_014942.4:c.1633G>T (ANKRD6) | NP_055757.3:p.Ala545Ser | |
| XM_005248679.2:c.1723G>T (ANKRD6) | XP_005248736.1:p.Ala575Ser | |
| XM_005248680.2:c.1708G>T (ANKRD6) | XP_005248737.1:p.Ala570Ser | |
| XM_005248681.1:c.1648G>T (ANKRD6) | XP_005248738.1:p.Ala550Ser | |
| XM_005248682.2:c.1645G>T (ANKRD6) | XP_005248739.1:p.Ala549Ser | |
| XM_005248683.2:c.1525G>T (ANKRD6) | XP_005248740.1:p.Ala509Ser | |
| XM_005248684.2:c.1243G>T (ANKRD6) | XP_005248741.1:p.Ala415Ser | |
| XM_011535595.1:c.1648G>T (ANKRD6) | XP_011533897.1:p.Ala550Ser | |
| XM_011535596.1:c.1624G>T (ANKRD6) | XP_011533898.1:p.Ala542Ser | |
| XM_011535597.1:c.1624G>T (ANKRD6) | XP_011533899.1:p.Ala542Ser | |
| XM_011535598.1:c.1549G>T (ANKRD6) | XP_011533900.1:p.Ala517Ser | |
| XM_011535599.1:c.1549G>T (ANKRD6) | XP_011533901.1:p.Ala517Ser | |
| XM_011535600.1:c.1456G>T (ANKRD6) | XP_011533902.1:p.Ala486Ser | |
| XM_005248679.3:c.1723G>T (ANKRD6) | XP_005248736.1:p.Ala575Ser | |
| XM_005248680.3:c.1708G>T (ANKRD6) | XP_005248737.1:p.Ala570Ser | |
| XM_005248681.2:c.1648G>T (ANKRD6) | XP_005248738.1:p.Ala550Ser | |
| XM_005248682.3:c.1645G>T (ANKRD6) | XP_005248739.1:p.Ala549Ser | |
| XM_005248683.3:c.1525G>T (ANKRD6) | XP_005248740.1:p.Ala509Ser | |
| XM_005248684.3:c.1243G>T (ANKRD6) | XP_005248741.1:p.Ala415Ser | |
| XM_011535596.2:c.1624G>T (ANKRD6) | XP_011533898.1:p.Ala542Ser | |
| XM_011535597.2:c.1624G>T (ANKRD6) | XP_011533899.1:p.Ala542Ser | |
| XM_011535598.2:c.1549G>T (ANKRD6) | XP_011533900.1:p.Ala517Ser | |
| XM_011535599.2:c.1549G>T (ANKRD6) | XP_011533901.1:p.Ala517Ser | |
| XM_011535600.2:c.1456G>T (ANKRD6) | XP_011533902.1:p.Ala486Ser | |
| XM_017010493.1:c.1618G>T (ANKRD6) | XP_016865982.1:p.Ala540Ser | |
| XM_017010494.1:c.1609G>T (ANKRD6) | XP_016865983.1:p.Ala537Ser | |
| XM_017010495.1:c.1549G>T (ANKRD6) | XP_016865984.1:p.Ala517Ser | |
| XM_017010496.2:c.1549G>T (ANKRD6) | XP_016865985.1:p.Ala517Ser | |
| XM_017010498.1:c.1528G>T (ANKRD6) | XP_016865987.1:p.Ala510Ser | |
| XM_017010499.1:c.1519G>T (ANKRD6) | XP_016865988.1:p.Ala507Ser | |
| XM_017010500.1:c.1510G>T (ANKRD6) | XP_016865989.1:p.Ala504Ser | |
| XM_017010501.1:c.1450G>T (ANKRD6) | XP_016865990.1:p.Ala484Ser | |
| XM_017010502.2:c.1450G>T (ANKRD6) | XP_016865991.1:p.Ala484Ser | |
| XM_017010503.1:c.1450G>T (ANKRD6) | XP_016865992.1:p.Ala484Ser | |
| XM_017010505.1:c.1444G>T (ANKRD6) | XP_016865994.1:p.Ala482Ser | |
| XM_017010508.1:c.1351G>T (ANKRD6) | XP_016865997.1:p.Ala451Ser | |
| XM_017010510.1:c.1246G>T (ANKRD6) | XP_016865999.1:p.Ala416Ser | |
| XM_017010511.2:c.1246G>T (ANKRD6) | XP_016866000.1:p.Ala416Ser | |
| XM_017010512.1:c.1168G>T (ANKRD6) | XP_016866001.1:p.Ala390Ser | |
| XM_017010513.1:c.1168G>T (ANKRD6) | XP_016866002.1:p.Ala390Ser | |
| XM_017010514.1:c.1069G>T (ANKRD6) | XP_016866003.1:p.Ala357Ser | |
| XM_017010515.2:c.946G>T (ANKRD6) | XP_016866004.1:p.Ala316Ser | |
| XM_024446357.1:c.1633G>T (ANKRD6) | XP_024302125.1:p.Ala545Ser | |
| XM_024446358.1:c.1549G>T (ANKRD6) | XP_024302126.1:p.Ala517Ser | |
| XM_024446359.1:c.1543G>T (ANKRD6) | XP_024302127.1:p.Ala515Ser | |
| XM_024446360.1:c.1534G>T (ANKRD6) | XP_024302128.1:p.Ala512Ser | |
| XM_024446361.1:c.1528G>T (ANKRD6) | XP_024302129.1:p.Ala510Ser | |
| XM_024446362.1:c.1450G>T (ANKRD6) | XP_024302130.1:p.Ala484Ser | |
| XM_024446363.1:c.1444G>T (ANKRD6) | XP_024302131.1:p.Ala482Ser | |
| XM_024446364.1:c.1435G>T (ANKRD6) | XP_024302132.1:p.Ala479Ser | |
| XM_024446365.1:c.1435G>T (ANKRD6) | XP_024302133.1:p.Ala479Ser | |
| XM_024446366.1:c.1345G>T (ANKRD6) | XP_024302134.1:p.Ala449Ser | |
| XM_024446368.1:c.1168G>T (ANKRD6) | XP_024302136.1:p.Ala390Ser | |
| NM_001242809.2:c.1648G>T (ANKRD6) MANE Select | NP_001229738.1:p.Ala550Ser |