Linked Data
ClinVar Variation Id:
194122
dbSNP Id:
rs199861426
ExAC:
8:6357416 C / T
gnomAD v2:
8-6357416-C-T
gnomAD v3:
8-6499895-C-T
gnomAD v4:
8-6499895-C-T
COSMIC:
COSM1196714
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.6499895C>T , CM000670.2:g.6499895C>T | GRCh38 |
| NC_000008.10:g.6357416C>T , CM000670.1:g.6357416C>T | GRCh37 |
| NC_000008.9:g.6344824C>T | NCBI36 |
| NG_016619.1:g.98304C>T | |
| NG_029483.1:g.68369G>A | |
| NG_016619.2:g.98304C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000519221.6:n.406C>T (MCPH1) | ||
| ENST00000521129.2:c.227C>T (MCPH1) | ENSP00000509664.1:p.Pro76Leu | |
| ENST00000521175.2:n.903C>T (MCPH1) | ||
| ENST00000687324.1:n.1118C>T (MCPH1) | ||
| ENST00000687413.1:c.269C>T (MCPH1) | ENSP00000510583.1:p.Pro90Leu | |
| ENST00000687720.1:c.*2128C>T (MCPH1) | ENSP00000510728.1:n.*2128C>T | |
| ENST00000688101.1:c.2337C>T (MCPH1) | ||
| ENST00000688388.1:c.*169C>T (MCPH1) | ENSP00000510092.1:n.*169C>T | |
| ENST00000688912.1:n.2191C>T (MCPH1) | ||
| ENST00000689148.1:n.1140C>T (MCPH1) | ||
| ENST00000689348.1:c.2180C>T (MCPH1) | ENSP00000509554.1:p.Pro727Leu | |
| ENST00000689633.1:c.1935+44643C>T (MCPH1) | ENSP00000509054.1:n.1935+44643C>T | |
| ENST00000689736.1:c.824C>T (MCPH1) | ENSP00000509722.1:p.Pro275Leu | |
| ENST00000690159.1:c.*2459C>T (MCPH1) | ENSP00000510482.1:n.*2459C>T | |
| ENST00000690708.1:c.1025C>T (MCPH1) | ENSP00000510400.1:p.Pro342Leu | |
| ENST00000690826.1:c.2180C>T (MCPH1) | ENSP00000510536.1:p.Pro727Leu | |
| ENST00000691435.1:c.2180C>T (MCPH1) | ENSP00000510652.1:p.Pro727Leu | |
| ENST00000691655.1:c.*1117C>T (MCPH1) | ENSP00000509652.1:n.*1117C>T | |
| ENST00000692836.1:c.2180C>T (MCPH1) | ENSP00000509971.1:p.Pro727Leu | |
| ENST00000692938.1:c.2180C>T (MCPH1) | ENSP00000509072.1:p.Pro727Leu | |
| ENST00000693231.1:c.*1675+44643C>T (MCPH1) | ENSP00000510764.1:n.*1675+44643C>T | |
| ENST00000344683.10:c.2180C>T (MCPH1) MANE Select | ENSP00000342924.5:p.Pro727Leu | |
| ENST00000629816.3:c.*3206G>A (ANGPT2) MANE Select | ENSP00000486858.2:n.*3206G>A | |
| ENST00000325203.9:c.*3206G>A (ANGPT2) | ENSP00000314897.5:n.*3206G>A | |
| ENST00000344683.9:c.2180C>T (MCPH1) | ENSP00000342924.5:p.Pro727Leu | |
| ENST00000519221.5:n.287C>T (MCPH1) | ||
| ENST00000521129.1:n.338C>T (MCPH1) | ||
| NM_001118887.1:c.*3206G>A (ANGPT2) | NP_001112359.1:n.*3206G>A | |
| NM_001118888.1:c.*3206G>A (ANGPT2) | NP_001112360.1:n.*3206G>A | |
| NM_001147.2:c.*3206G>A (ANGPT2) | NP_001138.1:n.*3206G>A | |
| NM_024596.3:c.2180C>T (MCPH1) | NP_078872.2:p.Pro727Leu | |
| XM_011534755.1:c.2180C>T (MCPH1) | XP_011533057.1:p.Pro727Leu | |
| XM_011534756.1:c.2180C>T (MCPH1) | XP_011533058.1:p.Pro727Leu | |
| XM_011534757.1:c.2180C>T (MCPH1) | XP_011533059.1:p.Pro727Leu | |
| XM_011534758.1:c.2180C>T (MCPH1) | XP_011533060.1:p.Pro727Leu | |
| XM_011534759.1:c.2180C>T (MCPH1) | XP_011533061.1:p.Pro727Leu | |
| XM_011534760.1:c.1655C>T (MCPH1) | XP_011533062.1:p.Pro552Leu | |
| NM_001322042.1:c.2180C>T (MCPH1) | NP_001308971.1:p.Pro727Leu | |
| NM_001363979.1:c.2180C>T (MCPH1) | NP_001350908.1:p.Pro727Leu | |
| NM_001363980.1:c.1935+44643C>T (MCPH1) | NP_001350909.1:n.1935+44643C>T | |
| NM_024596.4:c.2180C>T (MCPH1) | NP_078872.2:p.Pro727Leu | |
| XM_011534755.3:c.2180C>T (MCPH1) | XP_011533057.1:p.Pro727Leu | |
| XM_011534756.3:c.2180C>T (MCPH1) | XP_011533058.1:p.Pro727Leu | |
| XM_011534757.3:c.2180C>T (MCPH1) | XP_011533059.1:p.Pro727Leu | |
| XM_011534758.3:c.2180C>T (MCPH1) | XP_011533060.1:p.Pro727Leu | |
| XM_011534759.3:c.2180C>T (MCPH1) | XP_011533061.1:p.Pro727Leu | |
| XM_011534760.2:c.1655C>T (MCPH1) | XP_011533062.1:p.Pro552Leu | |
| XM_017013829.2:c.2180C>T (MCPH1) | XP_016869318.1:p.Pro727Leu | |
| XM_017013831.2:c.1979C>T (MCPH1) | XP_016869320.1:p.Pro660Leu | |
| XM_017013832.2:c.1935+44643C>T (MCPH1) | XP_016869321.1:n.1935+44643C>T | |
| XM_017013833.2:c.2180C>T (MCPH1) | XP_016869322.1:p.Pro727Leu | |
| XR_001745596.2:n.2233C>T (MCPH1) | ||
| NM_024596.5:c.2180C>T (MCPH1) MANE Select | NP_078872.3:p.Pro727Leu | |
| NM_001118887.2:c.*3206G>A (ANGPT2) MANE Select | NP_001112359.1:n.*3206G>A | |
| NM_001118888.2:c.*3206G>A (ANGPT2) | NP_001112360.1:n.*3206G>A | |
| NM_001147.3:c.*3206G>A (ANGPT2) | NP_001138.1:n.*3206G>A | |
| NM_001322042.2:c.2180C>T (MCPH1) | NP_001308971.2:p.Pro727Leu | |
| NM_001363980.2:c.1935+44643C>T (MCPH1) | NP_001350909.1:n.1935+44643C>T | |
| NM_001386335.1:c.*3206G>A (ANGPT2) | NP_001373264.1:n.*3206G>A | |
| NM_001386336.1:c.*3354G>A (ANGPT2) | NP_001373265.1:n.*3354G>A | |
| NM_001386337.1:c.*3354G>A (ANGPT2) | NP_001373266.1:n.*3354G>A |