Canonical Allele Identifier: CA397726195

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2477659
• ClinVar RCV Id: RCV003204000
• gnomAD v4: 17-7225056-G-A
• MyVariant Identifiers: chr17:g.7128375G>A (hg19) ; chr17:g.7225056G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225056G>A , CM000679.2:g.7225056G>A	GRCh38
NC_000017.10:g.7128375G>A , CM000679.1:g.7128375G>A	GRCh37
NC_000017.9:g.7069099G>A	NCBI36
NG_007975.1:g.10223G>A
NG_033038.1:g.14489C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1927G>A MANE Select	ENSP00000349297.5:p.Glu643Lys
ENST00000322910.9:c.*1882G>A	ENSP00000325395.5:n.*1882G>A
ENST00000350303.9:c.1861G>A	ENSP00000344152.5:p.Glu621Lys
ENST00000356839.9:c.1927G>A	ENSP00000349297.5:p.Glu643Lys
ENST00000542255.6:c.806G>A
ENST00000543245.6:c.1996G>A	ENSP00000438689.2:p.Glu666Lys
ENST00000578033.1:n.352G>A
ENST00000578319.5:n.508G>A
ENST00000578711.1:n.1552G>A
ENST00000578809.5:n.499G>A
ENST00000579425.5:n.1043G>A
ENST00000583848.5:c.293G>A	ENSP00000466487.1:n.293G>A
ENST00000583850.5:n.698G>A
ENST00000583858.5:c.858G>A
NM_000018.3:c.1927G>A	NP_000009.1:p.Glu643Lys
NM_001033859.2:c.1861G>A	NP_001029031.1:p.Glu621Lys
NM_001270447.1:c.1996G>A	NP_001257376.1:p.Glu666Lys
NM_001270448.1:c.1699G>A	NP_001257377.1:p.Glu567Lys
XM_006721516.2:c.1948G>A	XP_006721579.2:p.Glu650Lys
XM_011523829.1:c.1846G>A	XP_011522131.1:p.Glu616Lys
XM_011523830.1:c.1825G>A	XP_011522132.1:p.Glu609Lys
XR_934021.1:n.2030G>A
XR_934022.1:n.1936G>A
XR_934023.1:n.1957G>A
XM_006721516.3:c.1948G>A	XP_006721579.2:p.Glu650Lys
XM_011523829.2:c.1846G>A	XP_011522131.1:p.Glu616Lys
XM_011523830.2:c.1825G>A	XP_011522132.1:p.Glu609Lys
XM_024450741.1:c.1915G>A	XP_024306509.1:p.Glu639Lys
XR_934021.2:n.1982G>A
XR_934022.2:n.1888G>A
XR_934023.2:n.1909G>A
NM_000018.4:c.1927G>A MANE Select	NP_000009.1:p.Glu643Lys
NM_001033859.3:c.1861G>A	NP_001029031.1:p.Glu621Lys
NM_001270447.2:c.1996G>A	NP_001257376.1:p.Glu666Lys
NM_001270448.2:c.1699G>A	NP_001257377.1:p.Glu567Lys