Revel Score:
ENST00000356839 (MANE Select)
0.072
ENST00000542255
0.072
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7219875C>A , CM000679.2:g.7219875C>A | GRCh38 |
| NC_000017.10:g.7123194C>A , CM000679.1:g.7123194C>A | GRCh37 |
| NC_000017.9:g.7063918C>A | NCBI36 |
| NG_007975.1:g.5042C>A | |
| NG_008391.2:g.5176G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322910.9:c.-110C>A (ACADVL) | ENSP00000325395.5:n.-110C>A | |
| ENST00000350303.9:c.-110C>A (ACADVL) | ENSP00000344152.5:n.-110C>A | |
| ENST00000356839.9:c.-110C>A (ACADVL) | ENSP00000349297.5:n.-110C>A | |
| ENST00000543245.6:c.132-247C>A (ACADVL) | ENSP00000438689.2:n.132-247C>A | |
| ENST00000582356.5:n.16C>A (ACADVL) | ||
| ENST00000583312.5:c.-110C>A (ACADVL) | ENSP00000467920.1:n.-110C>A | |
| NM_000018.3:c.-110C>A (ACADVL) | NP_000009.1:n.-110C>A | |
| NM_001033859.2:c.-110C>A (ACADVL) | NP_001029031.1:n.-110C>A | |
| NM_001270447.1:c.132-247C>A (ACADVL) | NP_001257376.1:n.132-247C>A | |
| NM_001270448.1:c.-413C>A (ACADVL) | NP_001257377.1:n.-413C>A | |
| NM_001365.3:c.-1026G>T (DLG4) | NP_001356.1:n.-1026G>T | |
| NM_001321074.1:c.-1026G>T (DLG4) | NP_001308003.1:n.-1026G>T | |
| NM_001365.4:c.-1026G>T (DLG4) | NP_001356.1:n.-1026G>T | |
| NR_135527.1:n.176G>T (DLG4) | ||
| NM_001270447.2:c.132-247C>A (ACADVL) | NP_001257376.1:n.132-247C>A |