Canonical Allele Identifier: CA397723393
Gene: ACADVL HGNC NCBI
ClinGen Classification:
Classification Likely Pathogenic
Condition very long chain acyl-CoA dehydrogenase deficiency
VCEP ACADVL VCEP
ClinVar RCV:
RCV000556767
ClinVar Variation:
474901
dbSNP:
1432183079
gnomAD v2:
17:7125300 G / A
gnomAD v3:
17:7221981 G / A
gnomAD v4:
chr17-7221981-G-A
Joint Max Group AF 0.00000875 (SAS)
Exomes Max Group AF 0.00000385 (SAS)
MyVariant.info:
GRCh38 chr17:g.7221981G>A
GRCh37 chr17:g.7125300G>A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221981G>A , CM000679.2:g.7221981G>A GRCh38
NC_000017.10:g.7125300G>A , CM000679.1:g.7125300G>A GRCh37
NC_000017.9:g.7066024G>A NCBI36
NG_007975.1:g.7148G>A
NG_008391.2:g.3070C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.652G>A MANE Select ENSP00000349297.5:p.Glu218Lys
ENST00000322910.9:c.*607G>A ENSP00000325395.5:n.*607G>A
ENST00000350303.9:c.586G>A ENSP00000344152.5:p.Glu196Lys
ENST00000356839.9:c.652G>A ENSP00000349297.5:p.Glu218Lys
ENST00000543245.6:c.721G>A ENSP00000438689.2:p.Glu241Lys
ENST00000577191.5:n.729G>A
ENST00000577857.5:n.468G>A
ENST00000579286.5:n.833G>A
ENST00000580365.1:n.383G>A
ENST00000581378.5:c.370G>A
ENST00000581562.5:n.554G>A
ENST00000582379.1:n.36G>A
ENST00000583312.5:c.667G>A ENSP00000467920.1:p.Glu223Lys
ENST00000583760.1:n.434G>A
NM_000018.3:c.652G>A NP_000009.1:p.Glu218Lys
NM_001033859.2:c.586G>A NP_001029031.1:p.Glu196Lys
NM_001270447.1:c.721G>A NP_001257376.1:p.Glu241Lys
NM_001270448.1:c.424G>A NP_001257377.1:p.Glu142Lys
XM_006721516.2:c.652G>A XP_006721579.2:p.Glu218Lys
XM_011523829.1:c.652G>A XP_011522131.1:p.Glu218Lys
XM_011523830.1:c.652G>A XP_011522132.1:p.Glu218Lys
XR_934021.1:n.759G>A
XR_934022.1:n.759G>A
XR_934023.1:n.759G>A
XM_006721516.3:c.652G>A XP_006721579.2:p.Glu218Lys
XM_011523829.2:c.652G>A XP_011522131.1:p.Glu218Lys
XM_011523830.2:c.652G>A XP_011522132.1:p.Glu218Lys
XM_024450741.1:c.652G>A XP_024306509.1:p.Glu218Lys
XR_934021.2:n.711G>A
XR_934022.2:n.711G>A
XR_934023.2:n.711G>A
NM_000018.4:c.652G>A MANE Select NP_000009.1:p.Glu218Lys
NM_001033859.3:c.586G>A NP_001029031.1:p.Glu196Lys
NM_001270447.2:c.721G>A NP_001257376.1:p.Glu241Lys
NM_001270448.2:c.424G>A NP_001257377.1:p.Glu142Lys
Search 100 bp 5'
Search 100 bp 3'