Canonical Allele Identifier: CA397725352
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1547G>T MANE Select ENSP00000349297.5:p.Gly516Val
ENST00000322910.9:c.*1502G>T ENSP00000325395.5:n.*1502G>T
ENST00000350303.9:c.1481G>T ENSP00000344152.5:p.Gly494Val
ENST00000356839.9:c.1547G>T ENSP00000349297.5:p.Gly516Val
ENST00000542255.6:c.405G>T
ENST00000543245.6:c.1616G>T ENSP00000438689.2:p.Gly539Val
ENST00000578319.5:n.42G>T
ENST00000578711.1:n.831G>T
ENST00000578809.5:n.119G>T
ENST00000579391.1:n.155G>T
ENST00000579425.5:n.663G>T
ENST00000579546.1:c.286G>T
ENST00000579894.5:n.334G>T
ENST00000582450.1:n.55G>T
ENST00000583074.5:n.168G>T
ENST00000583850.5:n.322G>T
ENST00000583858.5:c.478G>T
ENST00000585203.6:n.738G>T
NM_000018.3:c.1547G>T NP_000009.1:p.Gly516Val
NM_001033859.2:c.1481G>T NP_001029031.1:p.Gly494Val
NM_001270447.1:c.1616G>T NP_001257376.1:p.Gly539Val
NM_001270448.1:c.1319G>T NP_001257377.1:p.Gly440Val
XM_006721516.2:c.1547G>T XP_006721579.2:p.Gly516Val
XM_011523829.1:c.1449G>T XP_011522131.1:p.Gly483=
XM_011523830.1:c.1449G>T XP_011522132.1:p.Gly483=
XR_934021.1:n.1654G>T
XR_934022.1:n.1556G>T
XR_934023.1:n.1556G>T
XM_006721516.3:c.1547G>T XP_006721579.2:p.Gly516Val
XM_011523829.2:c.1449G>T XP_011522131.1:p.Gly483=
XM_011523830.2:c.1449G>T XP_011522132.1:p.Gly483=
XM_024450741.1:c.1449G>T XP_024306509.1:p.Gly483=
XR_934021.2:n.1606G>T
XR_934022.2:n.1508G>T
XR_934023.2:n.1508G>T
NM_000018.4:c.1547G>T MANE Select NP_000009.1:p.Gly516Val
NM_001033859.3:c.1481G>T NP_001029031.1:p.Gly494Val
NM_001270447.2:c.1616G>T NP_001257376.1:p.Gly539Val
NM_001270448.2:c.1319G>T NP_001257377.1:p.Gly440Val