Revel Score:
ENST00000320542 (MANE Select)
0.485
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.30132128T>C , CM000670.2:g.30132128T>C | GRCh38 |
| NC_000008.10:g.29989644T>C , CM000670.1:g.29989644T>C | GRCh37 |
| NC_000008.9:g.30109186T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320542.4:c.1123A>G (MBOAT4) MANE Select | ENSP00000314196.3:p.Arg375Gly | |
| ENST00000320542.3:c.1123A>G (MBOAT4) | ENSP00000314196.3:p.Arg375Gly | |
| ENST00000442880.6:c.280-247T>C (LEPROTL1) | ENSP00000412803.2:n.280-247T>C | |
| ENST00000520682.5:c.432T>C (LEPROTL1) | ENSP00000429656.1:p.Pro144= | |
| ENST00000520739.5:c.279+27642T>C (LEPROTL1) | ENSP00000429398.1:n.279+27642T>C | |
| ENST00000523116.5:c.280-5144T>C (LEPROTL1) | ENSP00000428281.1:n.280-5144T>C | |
| NM_001100916.1:c.1123A>G (MBOAT4) | NP_001094386.1:p.Arg375Gly | |
| NM_001128208.1:c.280-5144T>C (LEPROTL1) | NP_001121680.1:n.280-5144T>C | |
| XM_011544609.1:c.1123A>G (MBOAT4) | XP_011542911.1:p.Arg375Gly | |
| XM_017013726.1:c.1123A>G (MBOAT4) | XP_016869215.1:p.Arg375Gly | |
| NM_001100916.2:c.1123A>G (MBOAT4) MANE Select | NP_001094386.1:p.Arg375Gly | |
| NM_001128208.2:c.280-5144T>C (LEPROTL1) | NP_001121680.1:n.280-5144T>C |