gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.50521567 (AFR)
Genomes Max Group AF
0.50521567 (AFR)
Exomes Max Group AF
0.227719 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.6616194A>G , CM000670.2:g.6616194A>G | GRCh38 |
| NC_000008.10:g.6473715A>G , CM000670.1:g.6473715A>G | GRCh37 |
| NC_000008.9:g.6461123A>G | NCBI36 |
| NG_016619.1:g.214603A>G | |
| NG_016619.2:g.214603A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000519221.6:n.441-5260A>G (MCPH1) | ||
| ENST00000521129.2:c.262-5260A>G (MCPH1) | ENSP00000509664.1:n.262-5260A>G | |
| ENST00000521175.2:n.938-5260A>G (MCPH1) | ||
| ENST00000686882.1:n.458+3349A>G (MCPH1) | ||
| ENST00000687324.1:n.1153-5260A>G (MCPH1) | ||
| ENST00000687413.1:c.304-5260A>G (MCPH1) | ENSP00000510583.1:n.304-5260A>G | |
| ENST00000687720.1:c.*2163-5260A>G (MCPH1) | ENSP00000510728.1:n.*2163-5260A>G | |
| ENST00000688101.1:c.2372-5260A>G (MCPH1) | ||
| ENST00000688388.1:c.*204-5260A>G (MCPH1) | ENSP00000510092.1:n.*204-5260A>G | |
| ENST00000689148.1:n.1175-5260A>G (MCPH1) | ||
| ENST00000689348.1:c.2215-5260A>G (MCPH1) | ENSP00000509554.1:n.2215-5260A>G | |
| ENST00000689633.1:c.1936-5260A>G (MCPH1) | ENSP00000509054.1:n.1936-5260A>G | |
| ENST00000689736.1:c.859-5260A>G (MCPH1) | ENSP00000509722.1:n.859-5260A>G | |
| ENST00000690159.1:c.*2494-5260A>G (MCPH1) | ENSP00000510482.1:n.*2494-5260A>G | |
| ENST00000690708.1:c.1060-5260A>G (MCPH1) | ENSP00000510400.1:n.1060-5260A>G | |
| ENST00000690826.1:c.2215-5260A>G (MCPH1) | ENSP00000510536.1:n.2215-5260A>G | |
| ENST00000692836.1:c.2215-5260A>G (MCPH1) | ENSP00000509971.1:n.2215-5260A>G | |
| ENST00000692938.1:c.2215-5260A>G (MCPH1) | ENSP00000509072.1:n.2215-5260A>G | |
| ENST00000693231.1:c.*1676-26486A>G (MCPH1) | ENSP00000510764.1:n.*1676-26486A>G | |
| ENST00000344683.10:c.2215-5260A>G (MCPH1) MANE Select | ENSP00000342924.5:n.2215-5260A>G | |
| ENST00000344683.9:c.2215-5260A>G (MCPH1) | ENSP00000342924.5:n.2215-5260A>G | |
| ENST00000519221.5:n.322-5260A>G (MCPH1) | ||
| ENST00000521129.1:n.373-5260A>G (MCPH1) | ||
| NM_024596.3:c.2215-5260A>G (MCPH1) | NP_078872.2:n.2215-5260A>G | |
| NR_125386.1:n.3541T>C (MCPH1-AS1) | ||
| XM_011534755.1:c.2215-5260A>G (MCPH1) | XP_011533057.1:n.2215-5260A>G | |
| XM_011534760.1:c.1690-5260A>G (MCPH1) | XP_011533062.1:n.1690-5260A>G | |
| NM_001322042.1:c.2215-5260A>G (MCPH1) | NP_001308971.1:n.2215-5260A>G | |
| NM_001363979.1:c.2215-5260A>G (MCPH1) | NP_001350908.1:n.2215-5260A>G | |
| NM_001363980.1:c.1936-5260A>G (MCPH1) | NP_001350909.1:n.1936-5260A>G | |
| NM_024596.4:c.2215-5260A>G (MCPH1) | NP_078872.2:n.2215-5260A>G | |
| XM_011534755.3:c.2215-5260A>G (MCPH1) | XP_011533057.1:n.2215-5260A>G | |
| XM_011534760.2:c.1690-5260A>G (MCPH1) | XP_011533062.1:n.1690-5260A>G | |
| XM_017013829.2:c.2215-5260A>G (MCPH1) | XP_016869318.1:n.2215-5260A>G | |
| XM_017013831.2:c.2014-5260A>G (MCPH1) | XP_016869320.1:n.2014-5260A>G | |
| XM_017013832.2:c.1936-5260A>G (MCPH1) | XP_016869321.1:n.1936-5260A>G | |
| XM_017013833.2:c.2215-26800A>G (MCPH1) | XP_016869322.1:n.2215-26800A>G | |
| XR_001745596.2:n.2268-5260A>G (MCPH1) | ||
| NM_024596.5:c.2215-5260A>G (MCPH1) MANE Select | NP_078872.3:n.2215-5260A>G | |
| NM_001322042.2:c.2215-5260A>G (MCPH1) | NP_001308971.2:n.2215-5260A>G | |
| NM_001363980.2:c.1936-5260A>G (MCPH1) | NP_001350909.1:n.1936-5260A>G |