Revel Score:
ENST00000344683 (MANE Select)
0.277
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.6621521C>A , CM000670.2:g.6621521C>A | GRCh38 |
| NC_000008.10:g.6479042C>A , CM000670.1:g.6479042C>A | GRCh37 |
| NC_000008.9:g.6466450C>A | NCBI36 |
| NG_016619.1:g.219930C>A | |
| NG_016619.2:g.219930C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000519221.6:n.508C>A (MCPH1) | ||
| ENST00000521129.2:c.329C>A (MCPH1) | ENSP00000509664.1:p.Ala110Glu | |
| ENST00000521175.2:n.1005C>A (MCPH1) | ||
| ENST00000687324.1:n.1220C>A (MCPH1) | ||
| ENST00000687413.1:c.371C>A (MCPH1) | ENSP00000510583.1:p.Ala124Glu | |
| ENST00000687720.1:c.*2230C>A (MCPH1) | ENSP00000510728.1:n.*2230C>A | |
| ENST00000688101.1:c.2439C>A (MCPH1) | ||
| ENST00000688388.1:c.*271C>A (MCPH1) | ENSP00000510092.1:n.*271C>A | |
| ENST00000689148.1:n.1242C>A (MCPH1) | ||
| ENST00000689348.1:c.2282C>A (MCPH1) | ENSP00000509554.1:p.Ala761Glu | |
| ENST00000689633.1:c.2003C>A (MCPH1) | ENSP00000509054.1:p.Ala668Glu | |
| ENST00000689736.1:c.926C>A (MCPH1) | ENSP00000509722.1:p.Ala309Glu | |
| ENST00000690159.1:c.*2561C>A (MCPH1) | ENSP00000510482.1:n.*2561C>A | |
| ENST00000690708.1:c.1127C>A (MCPH1) | ENSP00000510400.1:p.Ala376Glu | |
| ENST00000690826.1:c.2282C>A (MCPH1) | ENSP00000510536.1:p.Ala761Glu | |
| ENST00000692836.1:c.2282C>A (MCPH1) | ENSP00000509971.1:p.Ala761Glu | |
| ENST00000692938.1:c.2282C>A (MCPH1) | ENSP00000509072.1:p.Ala761Glu | |
| ENST00000693231.1:c.*1676-21159C>A (MCPH1) | ENSP00000510764.1:n.*1676-21159C>A | |
| ENST00000344683.10:c.2282C>A (MCPH1) MANE Select | ENSP00000342924.5:p.Ala761Glu | |
| ENST00000344683.9:c.2282C>A (MCPH1) | ENSP00000342924.5:p.Ala761Glu | |
| ENST00000519221.5:n.389C>A (MCPH1) | ||
| ENST00000521129.1:n.440C>A (MCPH1) | ||
| ENST00000521175.1:n.70C>A (MCPH1) | ||
| NM_024596.3:c.2282C>A (MCPH1) | NP_078872.2:p.Ala761Glu | |
| NR_125386.1:n.344G>T (MCPH1-AS1) | ||
| XM_011534755.1:c.2282C>A (MCPH1) | XP_011533057.1:p.Ala761Glu | |
| XM_011534760.1:c.1757C>A (MCPH1) | XP_011533062.1:p.Ala586Glu | |
| NM_001322042.1:c.2282C>A (MCPH1) | NP_001308971.1:p.Ala761Glu | |
| NM_001363979.1:c.2282C>A (MCPH1) | NP_001350908.1:p.Ala761Glu | |
| NM_001363980.1:c.2003C>A (MCPH1) | NP_001350909.1:p.Ala668Glu | |
| NM_024596.4:c.2282C>A (MCPH1) | NP_078872.2:p.Ala761Glu | |
| XM_011534755.3:c.2282C>A (MCPH1) | XP_011533057.1:p.Ala761Glu | |
| XM_011534760.2:c.1757C>A (MCPH1) | XP_011533062.1:p.Ala586Glu | |
| XM_017013829.2:c.2282C>A (MCPH1) | XP_016869318.1:p.Ala761Glu | |
| XM_017013831.2:c.2081C>A (MCPH1) | XP_016869320.1:p.Ala694Glu | |
| XM_017013832.2:c.2003C>A (MCPH1) | XP_016869321.1:p.Ala668Glu | |
| XM_017013833.2:c.2215-21473C>A (MCPH1) | XP_016869322.1:n.2215-21473C>A | |
| XR_001745596.2:n.2335C>A (MCPH1) | ||
| NM_024596.5:c.2282C>A (MCPH1) MANE Select | NP_078872.3:p.Ala761Glu | |
| NM_001322042.2:c.2282C>A (MCPH1) | NP_001308971.2:p.Ala761Glu | |
| NM_001363980.2:c.2003C>A (MCPH1) | NP_001350909.1:p.Ala668Glu |