gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.70173768 (EAS)
Genomes Max Group AF
0.70173768 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.6630984T>C , CM000670.2:g.6630984T>C | GRCh38 |
| NC_000008.10:g.6488505T>C , CM000670.1:g.6488505T>C | GRCh37 |
| NC_000008.9:g.6475913T>C | NCBI36 |
| NG_016619.1:g.229393T>C | |
| NG_016619.2:g.229393T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000519221.6:n.820+5947T>C (MCPH1) | ||
| ENST00000521175.2:n.1175+9293T>C (MCPH1) | ||
| ENST00000687324.1:n.1390+9293T>C (MCPH1) | ||
| ENST00000687720.1:c.*2400+9293T>C (MCPH1) | ENSP00000510728.1:n.*2400+9293T>C | |
| ENST00000688101.1:c.2609+9293T>C (MCPH1) | ||
| ENST00000688388.1:c.*441+9293T>C (MCPH1) | ENSP00000510092.1:n.*441+9293T>C | |
| ENST00000689148.1:n.1412+9293T>C (MCPH1) | ||
| ENST00000689348.1:c.2594+5947T>C (MCPH1) | ENSP00000509554.1:n.2594+5947T>C | |
| ENST00000689633.1:c.2173+9293T>C (MCPH1) | ENSP00000509054.1:n.2173+9293T>C | |
| ENST00000690708.1:c.1297+9293T>C (MCPH1) | ENSP00000510400.1:n.1297+9293T>C | |
| ENST00000690826.1:c.2453-6917T>C (MCPH1) | ENSP00000510536.1:n.2453-6917T>C | |
| ENST00000693231.1:c.*1676-11696T>C (MCPH1) | ENSP00000510764.1:n.*1676-11696T>C | |
| ENST00000344683.10:c.2452+9293T>C (MCPH1) MANE Select | ENSP00000342924.5:n.2452+9293T>C | |
| ENST00000344683.9:c.2452+9293T>C (MCPH1) | ENSP00000342924.5:n.2452+9293T>C | |
| ENST00000521175.1:n.240+9293T>C (MCPH1) | ||
| NM_024596.3:c.2452+9293T>C (MCPH1) | NP_078872.2:n.2452+9293T>C | |
| NR_125386.1:n.70-3674A>G (MCPH1-AS1) | ||
| NM_001322042.1:c.2594+5947T>C (MCPH1) | NP_001308971.1:n.2594+5947T>C | |
| NM_001363979.1:c.2453-6917T>C (MCPH1) | NP_001350908.1:n.2453-6917T>C | |
| NM_001363980.1:c.2173+9293T>C (MCPH1) | NP_001350909.1:n.2173+9293T>C | |
| NM_024596.4:c.2452+9293T>C (MCPH1) | NP_078872.2:n.2452+9293T>C | |
| XM_017013833.2:c.2215-12010T>C (MCPH1) | XP_016869322.1:n.2215-12010T>C | |
| XR_001745596.2:n.2505+9293T>C (MCPH1) | ||
| NM_024596.5:c.2452+9293T>C (MCPH1) MANE Select | NP_078872.3:n.2452+9293T>C | |
| NM_001322042.2:c.2594+5947T>C (MCPH1) | NP_001308971.2:n.2594+5947T>C | |
| NM_001363980.2:c.2173+9293T>C (MCPH1) | NP_001350909.1:n.2173+9293T>C |