Linked Data
ClinVar Variation Id:
1369951
ClinVar RCV Id:
RCV001899209
dbSNP Id:
rs1019684161
gnomAD v4:
17-7219995-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7219995C>A , CM000679.2:g.7219995C>A | GRCh38 |
| NC_000017.10:g.7123314C>A , CM000679.1:g.7123314C>A | GRCh37 |
| NC_000017.9:g.7064038C>A | NCBI36 |
| NG_007975.1:g.5162C>A | |
| NG_008391.2:g.5056G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.11C>A (ACADVL) MANE Select | ENSP00000349297.5:p.Ala4Asp | |
| ENST00000322910.9:c.11C>A (ACADVL) | ENSP00000325395.5:p.Ala4Asp | |
| ENST00000350303.9:c.11C>A (ACADVL) | ENSP00000344152.5:p.Ala4Asp | |
| ENST00000356839.9:c.11C>A (ACADVL) | ENSP00000349297.5:p.Ala4Asp | |
| ENST00000543245.6:c.132-127C>A (ACADVL) | ENSP00000438689.2:n.132-127C>A | |
| ENST00000577191.5:n.88C>A (ACADVL) | ||
| ENST00000577857.5:n.101C>A (ACADVL) | ||
| ENST00000578269.5:n.118C>A (ACADVL) | ||
| ENST00000578421.1:n.70C>A (ACADVL) | ||
| ENST00000579286.5:n.118C>A (ACADVL) | ||
| ENST00000579886.2:c.11C>A (ACADVL) | ENSP00000463246.1:p.Ala4Asp | |
| ENST00000580263.5:n.101C>A (ACADVL) | ||
| ENST00000581562.5:n.58C>A (ACADVL) | ||
| ENST00000582056.5:n.101C>A (ACADVL) | ||
| ENST00000582356.5:n.136C>A (ACADVL) | ||
| ENST00000583312.5:c.11C>A (ACADVL) | ENSP00000467920.1:p.Ala4Asp | |
| ENST00000584103.5:c.11C>A (ACADVL) | ENSP00000465353.1:p.Ala4Asp | |
| NM_000018.3:c.11C>A (ACADVL) | NP_000009.1:p.Ala4Asp | |
| NM_001033859.2:c.11C>A (ACADVL) | NP_001029031.1:p.Ala4Asp | |
| NM_001270447.1:c.132-127C>A (ACADVL) | NP_001257376.1:n.132-127C>A | |
| NM_001270448.1:c.-293C>A (ACADVL) | NP_001257377.1:n.-293C>A | |
| NM_001365.3:c.-1146G>T (DLG4) | NP_001356.1:n.-1146G>T | |
| XM_006721516.2:c.11C>A (ACADVL) | XP_006721579.2:p.Ala4Asp | |
| XM_011523829.1:c.11C>A (ACADVL) | XP_011522131.1:p.Ala4Asp | |
| XM_011523830.1:c.11C>A (ACADVL) | XP_011522132.1:p.Ala4Asp | |
| XR_934021.1:n.118C>A (ACADVL) | ||
| XR_934022.1:n.118C>A (ACADVL) | ||
| XR_934023.1:n.118C>A (ACADVL) | ||
| NM_001321074.1:c.-1146G>T (DLG4) | NP_001308003.1:n.-1146G>T | |
| NM_001365.4:c.-1146G>T (DLG4) | NP_001356.1:n.-1146G>T | |
| NR_135527.1:n.56G>T (DLG4) | ||
| XM_006721516.3:c.11C>A (ACADVL) | XP_006721579.2:p.Ala4Asp | |
| XM_011523829.2:c.11C>A (ACADVL) | XP_011522131.1:p.Ala4Asp | |
| XM_011523830.2:c.11C>A (ACADVL) | XP_011522132.1:p.Ala4Asp | |
| XM_024450741.1:c.11C>A (ACADVL) | XP_024306509.1:p.Ala4Asp | |
| XR_934021.2:n.70C>A (ACADVL) | ||
| XR_934022.2:n.70C>A (ACADVL) | ||
| XR_934023.2:n.70C>A (ACADVL) | ||
| NM_000018.4:c.11C>A (ACADVL) MANE Select | NP_000009.1:p.Ala4Asp | |
| NM_001033859.3:c.11C>A (ACADVL) | NP_001029031.1:p.Ala4Asp | |
| NM_001270447.2:c.132-127C>A (ACADVL) | NP_001257376.1:n.132-127C>A | |
| NM_001270448.2:c.-293C>A (ACADVL) | NP_001257377.1:n.-293C>A |