Revel Score:
ENST00000374056
0.025
ENST00000412531 (MANE Select)
0.025
gnomAD v4:
Joint Max Group AF
0.00002549 (AFR)
Exomes Max Group AF
0.0000585 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.50008914C>A , CM000672.2:g.50008914C>A | GRCh38 |
| NC_000010.10:g.51768674C>A , CM000672.1:g.51768674C>A | GRCh37 |
| NC_000010.9:g.51438680C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311652.11:c.996C>A (AGAP6) | ENSP00000309985.8:n.996C>A | |
| ENST00000412531.7:c.789C>A (AGAP6) MANE Select | ENSP00000500374.1:p.Asp263Glu | |
| ENST00000311652.10:c.*372C>A (TIMM23B-AGAP6) | ENSP00000309985.7:n.*372C>A | |
| ENST00000374056.10:c.720C>A (AGAP6) | ENSP00000363168.6:p.Asp240Glu | |
| ENST00000412531.6:c.789C>A (AGAP6) | ENSP00000500374.1:p.Asp263Glu | |
| ENST00000618171.5:n.1270C>A (AGAP6) | ||
| ENST00000651208.1:c.*1198C>A (TIMM23B-AGAP6) | ENSP00000502504.1:n.*1198C>A | |
| ENST00000651763.1:c.*1004C>A (TIMM23B-AGAP6) | ENSP00000502214.1:n.*1004C>A | |
| ENST00000679578.1:n.796C>A (AGAP6) | ||
| ENST00000679610.1:n.1292C>A (AGAP6) | ||
| ENST00000679810.1:c.*242C>A (AGAP6) | ENSP00000505254.1:n.*242C>A | |
| ENST00000680115.1:c.1022C>A (AGAP6) | ENSP00000505645.1:n.1022C>A | |
| ENST00000681530.1:n.513C>A (AGAP6) | ||
| ENST00000374056.8:c.720C>A (AGAP6) | ENSP00000363168.4:p.Asp240Glu | |
| ENST00000412531.3:c.789C>A (AGAP6) | ENSP00000400972.3:p.Asp263Glu | |
| ENST00000618025.4:c.396C>A (AGAP6) | ENSP00000483426.1:p.Asp132Glu | |
| ENST00000622418.4:c.789C>A (AGAP6) | ENSP00000485012.1:p.Asp263Glu | |
| NM_001077665.2:c.789C>A (AGAP6) | NP_001071133.2:p.Asp263Glu | |
| XM_005269841.2:c.186C>A (AGAP6) | XP_005269898.1:p.Asp62Glu | |
| XM_011539811.1:c.948C>A (AGAP6) | XP_011538113.1:p.Asp316Glu | |
| XM_011539812.1:c.879C>A (AGAP6) | XP_011538114.1:p.Asp293Glu | |
| XM_011539813.1:c.879C>A (AGAP6) | XP_011538115.1:p.Asp293Glu | |
| XM_011539814.1:c.186C>A (AGAP6) | XP_011538116.1:p.Asp62Glu | |
| XM_011539815.1:c.396C>A (AGAP6) | XP_011538117.1:p.Asp132Glu | |
| NM_001365867.1:c.186C>A (AGAP6) | NP_001352796.1:p.Asp62Glu | |
| NR_158654.1:n.1294C>A (TIMM23B-AGAP6) | ||
| NR_158656.1:n.1353C>A (TIMM23B-AGAP6) | ||
| NR_158657.1:n.1477C>A (TIMM23B-AGAP6) | ||
| NR_158658.1:n.1552C>A (TIMM23B-AGAP6) | ||
| NR_158659.1:n.1703C>A (TIMM23B-AGAP6) | ||
| NR_158660.1:n.1735C>A (TIMM23B-AGAP6) | ||
| NR_158661.1:n.2015C>A (TIMM23B-AGAP6) | ||
| XM_005269841.4:c.186C>A (AGAP6) | XP_005269898.1:p.Asp62Glu | |
| XM_011539814.3:c.186C>A (AGAP6) | XP_011538116.1:p.Asp62Glu | |
| XM_011539815.3:c.396C>A (AGAP6) | XP_011538117.1:p.Asp132Glu | |
| XM_017016268.1:c.879C>A (AGAP6) | XP_016871757.1:p.Asp293Glu | |
| XM_017016269.1:c.879C>A (AGAP6) | XP_016871758.1:p.Asp293Glu | |
| XM_017016270.2:c.720C>A (AGAP6) | XP_016871759.1:p.Asp240Glu | |
| XM_017016271.2:c.672C>A (AGAP6) | XP_016871760.1:p.Asp224Glu | |
| XM_017016272.1:c.672C>A (AGAP6) | XP_016871761.1:p.Asp224Glu | |
| XM_017016274.2:c.186C>A (AGAP6) | XP_016871763.1:p.Asp62Glu | |
| NM_001077665.3:c.789C>A (AGAP6) MANE Select | NP_001071133.2:p.Asp263Glu | |
| NR_171667.1:n.1471C>A (AGAP6) |