Revel Score:
ENST00000537677
0.041
ENST00000325542 (MANE Select)
0.041
ENST00000325486
0.041
ENST00000538658
0.041
ENST00000541150
0.041
ENST00000535224
0.018
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00010206 (AMR)
Genomes Max Group AF
0.00005291 (AMR)
Exomes Max Group AF
0.00008864 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.95821922C>T , CM000673.2:g.95821922C>T | GRCh38 |
| NC_000011.9:g.95555086C>T , CM000673.1:g.95555086C>T | GRCh37 |
| NC_000011.8:g.95194734C>T | NCBI36 |
| NG_029829.1:g.36462C>T , LRG_526:g.36462C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325542.10:c.751C>T (CEP57) MANE Select | ENSP00000317902.5:p.Pro251Ser | |
| ENST00000675896.1:c.*4573G>A (MTMR2) | ENSP00000502487.1:n.*4573G>A | |
| ENST00000325486.9:c.751C>T (CEP57) | ENSP00000317487.5:p.Pro251Ser | |
| ENST00000325542.9:c.751C>T (CEP57) | ENSP00000317902.5:p.Pro251Ser | |
| ENST00000535224.1:c.197C>T (CEP57) | ||
| ENST00000537093.5:c.162+3018C>T (CEP57) | ENSP00000444749.1:n.162+3018C>T | |
| ENST00000537677.5:c.670C>T (CEP57) | ENSP00000441392.1:p.Pro224Ser | |
| ENST00000538658.5:c.751C>T (CEP57) | ENSP00000445706.1:p.Pro251Ser | |
| ENST00000539855.5:c.*530C>T (CEP57) | ENSP00000437422.1:n.*530C>T | |
| ENST00000540830.5:c.*515C>T (CEP57) | ENSP00000440996.1:n.*515C>T | |
| ENST00000541150.5:c.724C>T (CEP57) | ENSP00000443436.1:p.Pro242Ser | |
| NM_001243776.1:c.724C>T (CEP57) | NP_001230705.1:p.Pro242Ser | |
| NM_001243777.1:c.751C>T (CEP57) | NP_001230706.1:p.Pro251Ser | |
| NM_014679.4:c.751C>T (CEP57) | NP_055494.2:p.Pro251Ser | |
| XM_006718945.2:c.634C>T (CEP57) | XP_006719008.1:p.Pro212Ser | |
| XM_006718946.2:c.699+3018C>T (CEP57) | XP_006719009.1:n.699+3018C>T | |
| NM_001363604.1:c.670C>T (CEP57) | NP_001350533.1:p.Pro224Ser | |
| XM_006718945.3:c.634C>T (CEP57) | XP_006719008.1:p.Pro212Ser | |
| XM_006718946.3:c.699+3018C>T (CEP57) | XP_006719009.1:n.699+3018C>T | |
| XM_017018592.1:c.724C>T (CEP57) | XP_016874081.1:p.Pro242Ser | |
| XM_017018593.2:c.634C>T (CEP57) | XP_016874082.1:p.Pro212Ser | |
| XM_017018594.2:c.582+3018C>T (CEP57) | XP_016874083.1:n.582+3018C>T | |
| XM_024448779.1:c.553C>T (CEP57) | XP_024304547.1:p.Pro185Ser | |
| XR_001748050.2:n.979C>T (CEP57) | ||
| NM_014679.5:c.751C>T (CEP57) MANE Select | NP_055494.2:p.Pro251Ser | |
| NM_001243776.2:c.724C>T (CEP57) | NP_001230705.1:p.Pro242Ser | |
| NM_001243777.2:c.751C>T (CEP57) | NP_001230706.1:p.Pro251Ser | |
| NM_001363604.2:c.670C>T (CEP57) | NP_001350533.1:p.Pro224Ser |