Linked Data
ClinVar Variation Id:
21022
dbSNP Id:
rs2230179
ExAC:
17:7123352 C / T
gnomAD v2:
17-7123352-C-T
gnomAD v3:
17-7220033-C-T
gnomAD v4:
17-7220033-C-T
ERepo:
CA341522/MONDO:0008723/021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7220033C>T , CM000679.2:g.7220033C>T | GRCh38 |
| NC_000017.10:g.7123352C>T , CM000679.1:g.7123352C>T | GRCh37 |
| NC_000017.9:g.7064076C>T | NCBI36 |
| NG_007975.1:g.5200C>T | |
| NG_008391.2:g.5018G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.49C>T (ACADVL) MANE Select | ENSP00000349297.5:p.Leu17Phe | |
| ENST00000322910.9:c.49C>T (ACADVL) | ENSP00000325395.5:p.Leu17Phe | |
| ENST00000350303.9:c.49C>T (ACADVL) | ENSP00000344152.5:p.Leu17Phe | |
| ENST00000356839.9:c.49C>T (ACADVL) | ENSP00000349297.5:p.Leu17Phe | |
| ENST00000543245.6:c.132-89C>T (ACADVL) | ENSP00000438689.2:n.132-89C>T | |
| ENST00000577191.5:n.126C>T (ACADVL) | ||
| ENST00000577857.5:n.139C>T (ACADVL) | ||
| ENST00000578269.5:n.156C>T (ACADVL) | ||
| ENST00000578421.1:n.108C>T (ACADVL) | ||
| ENST00000579286.5:n.156C>T (ACADVL) | ||
| ENST00000579886.2:c.49C>T (ACADVL) | ENSP00000463246.1:p.Leu17Phe | |
| ENST00000580263.5:n.139C>T (ACADVL) | ||
| ENST00000581562.5:n.96C>T (ACADVL) | ||
| ENST00000582056.5:n.139C>T (ACADVL) | ||
| ENST00000582356.5:n.174C>T (ACADVL) | ||
| ENST00000583312.5:c.49C>T (ACADVL) | ENSP00000467920.1:p.Leu17Phe | |
| ENST00000584103.5:c.49C>T (ACADVL) | ENSP00000465353.1:p.Leu17Phe | |
| NM_000018.3:c.49C>T (ACADVL) | NP_000009.1:p.Leu17Phe | |
| NM_001033859.2:c.49C>T (ACADVL) | NP_001029031.1:p.Leu17Phe | |
| NM_001270447.1:c.132-89C>T (ACADVL) | NP_001257376.1:n.132-89C>T | |
| NM_001270448.1:c.-255C>T (ACADVL) | NP_001257377.1:n.-255C>T | |
| NM_001365.3:c.-1184G>A (DLG4) | NP_001356.1:n.-1184G>A | |
| XM_006721516.2:c.49C>T (ACADVL) | XP_006721579.2:p.Leu17Phe | |
| XM_011523829.1:c.49C>T (ACADVL) | XP_011522131.1:p.Leu17Phe | |
| XM_011523830.1:c.49C>T (ACADVL) | XP_011522132.1:p.Leu17Phe | |
| XR_934021.1:n.156C>T (ACADVL) | ||
| XR_934022.1:n.156C>T (ACADVL) | ||
| XR_934023.1:n.156C>T (ACADVL) | ||
| NM_001321074.1:c.-1184G>A (DLG4) | NP_001308003.1:n.-1184G>A | |
| NM_001365.4:c.-1184G>A (DLG4) | NP_001356.1:n.-1184G>A | |
| NR_135527.1:n.18G>A (DLG4) | ||
| XM_006721516.3:c.49C>T (ACADVL) | XP_006721579.2:p.Leu17Phe | |
| XM_011523829.2:c.49C>T (ACADVL) | XP_011522131.1:p.Leu17Phe | |
| XM_011523830.2:c.49C>T (ACADVL) | XP_011522132.1:p.Leu17Phe | |
| XM_024450741.1:c.49C>T (ACADVL) | XP_024306509.1:p.Leu17Phe | |
| XR_934021.2:n.108C>T (ACADVL) | ||
| XR_934022.2:n.108C>T (ACADVL) | ||
| XR_934023.2:n.108C>T (ACADVL) | ||
| NM_000018.4:c.49C>T (ACADVL) MANE Select | NP_000009.1:p.Leu17Phe | |
| NM_001033859.3:c.49C>T (ACADVL) | NP_001029031.1:p.Leu17Phe | |
| NM_001270447.2:c.132-89C>T (ACADVL) | NP_001257376.1:n.132-89C>T | |
| NM_001270448.2:c.-255C>T (ACADVL) | NP_001257377.1:n.-255C>T |