Canonical Allele Identifier: CA397725350
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7224335-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224335G>A , CM000679.2:g.7224335G>A GRCh38
NC_000017.10:g.7127654G>A , CM000679.1:g.7127654G>A GRCh37
NC_000017.9:g.7068378G>A NCBI36
NG_007975.1:g.9502G>A
NG_008391.2:g.716C>T
NG_033038.1:g.15210C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1547G>A MANE Select ENSP00000349297.5:p.Gly516Asp
ENST00000322910.9:c.*1502G>A ENSP00000325395.5:n.*1502G>A
ENST00000350303.9:c.1481G>A ENSP00000344152.5:p.Gly494Asp
ENST00000356839.9:c.1547G>A ENSP00000349297.5:p.Gly516Asp
ENST00000542255.6:c.405G>A
ENST00000543245.6:c.1616G>A ENSP00000438689.2:p.Gly539Asp
ENST00000578319.5:n.42G>A
ENST00000578711.1:n.831G>A
ENST00000578809.5:n.119G>A
ENST00000579391.1:n.155G>A
ENST00000579425.5:n.663G>A
ENST00000579546.1:c.286G>A
ENST00000579894.5:n.334G>A
ENST00000582450.1:n.55G>A
ENST00000583074.5:n.168G>A
ENST00000583850.5:n.322G>A
ENST00000583858.5:c.478G>A
ENST00000585203.6:n.738G>A
NM_000018.3:c.1547G>A NP_000009.1:p.Gly516Asp
NM_001033859.2:c.1481G>A NP_001029031.1:p.Gly494Asp
NM_001270447.1:c.1616G>A NP_001257376.1:p.Gly539Asp
NM_001270448.1:c.1319G>A NP_001257377.1:p.Gly440Asp
XM_006721516.2:c.1547G>A XP_006721579.2:p.Gly516Asp
XM_011523829.1:c.1449G>A XP_011522131.1:p.Gly483=
XM_011523830.1:c.1449G>A XP_011522132.1:p.Gly483=
XR_934021.1:n.1654G>A
XR_934022.1:n.1556G>A
XR_934023.1:n.1556G>A
XM_006721516.3:c.1547G>A XP_006721579.2:p.Gly516Asp
XM_011523829.2:c.1449G>A XP_011522131.1:p.Gly483=
XM_011523830.2:c.1449G>A XP_011522132.1:p.Gly483=
XM_024450741.1:c.1449G>A XP_024306509.1:p.Gly483=
XR_934021.2:n.1606G>A
XR_934022.2:n.1508G>A
XR_934023.2:n.1508G>A
NM_000018.4:c.1547G>A MANE Select NP_000009.1:p.Gly516Asp
NM_001033859.3:c.1481G>A NP_001029031.1:p.Gly494Asp
NM_001270447.2:c.1616G>A NP_001257376.1:p.Gly539Asp
NM_001270448.2:c.1319G>A NP_001257377.1:p.Gly440Asp