Revel Score:
ENST00000378392 (MANE Select)
0.204
ENST00000378380
0.204
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10043179C>T , CM000682.2:g.10043179C>T | GRCh38 |
| NC_000020.10:g.10023827C>T , CM000682.1:g.10023827C>T | GRCh37 |
| NC_000020.9:g.9971827C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378392.6:c.404C>T (ANKEF1) MANE Select | ENSP00000367644.1:p.Ala135Val | |
| ENST00000378380.4:c.404C>T (ANKEF1) | ENSP00000367631.3:p.Ala135Val | |
| ENST00000378392.5:c.404C>T (ANKEF1) | ENSP00000367644.1:p.Ala135Val | |
| ENST00000437504.1:n.452C>T (ANKEF1) | ||
| ENST00000488991.1:n.711C>T (ANKEF1) | ||
| NM_001303472.1:c.-164C>T (ANKEF1) | NP_001290401.1:n.-164C>T | |
| NM_022096.5:c.404C>T (ANKEF1) | NP_071379.3:p.Ala135Val | |
| NM_198798.2:c.404C>T (ANKEF1) | NP_942093.1:p.Ala135Val | |
| NR_040710.1:n.500-16531G>A (SNAP25-AS1) | ||
| XM_005260792.2:c.-164C>T (ANKEF1) | XP_005260849.1:n.-164C>T | |
| NM_022096.6:c.404C>T (ANKEF1) MANE Select | NP_071379.3:p.Ala135Val | |
| NM_001303472.2:c.-164C>T (ANKEF1) | NP_001290401.1:n.-164C>T | |
| NM_198798.3:c.404C>T (ANKEF1) | NP_942093.1:p.Ala135Val |