Canonical Allele Identifier: CA8338236

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2438812
• ClinVar RCV Id: RCV003139564
• dbSNP Id: rs754123613
• ExAC: 17:7128033 G / A
• gnomAD v2: 17-7128033-G-A
• gnomAD v4: 17-7224714-G-A
• MyVariant Identifiers: chr17:g.7128033G>A (hg19) ; chr17:g.7224714G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224714G>A , CM000679.2:g.7224714G>A	GRCh38
NC_000017.10:g.7128033G>A , CM000679.1:g.7128033G>A	GRCh37
NC_000017.9:g.7068757G>A	NCBI36
NG_007975.1:g.9881G>A
NG_008391.2:g.337C>T
NG_033038.1:g.14831C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1751G>A MANE Select	ENSP00000349297.5:p.Arg584Lys
ENST00000322910.9:c.*1706G>A	ENSP00000325395.5:n.*1706G>A
ENST00000350303.9:c.1685G>A	ENSP00000344152.5:p.Arg562Lys
ENST00000356839.9:c.1751G>A	ENSP00000349297.5:p.Arg584Lys
ENST00000542255.6:c.537-1G>A
ENST00000543245.6:c.1820G>A	ENSP00000438689.2:p.Arg607Lys
ENST00000578033.1:n.82G>A
ENST00000578319.5:n.332G>A
ENST00000578711.1:n.1210G>A
ENST00000578809.5:n.323G>A
ENST00000579425.5:n.867G>A
ENST00000579546.1:c.486G>A
ENST00000583074.5:n.300-1G>A
ENST00000583848.5:c.117G>A	ENSP00000466487.1:p.Glu39=
ENST00000583850.5:n.522G>A
ENST00000583858.5:c.682G>A
ENST00000585203.6:n.942G>A
NM_000018.3:c.1751G>A	NP_000009.1:p.Arg584Lys
NM_001033859.2:c.1685G>A	NP_001029031.1:p.Arg562Lys
NM_001270447.1:c.1820G>A	NP_001257376.1:p.Arg607Lys
NM_001270448.1:c.1523G>A	NP_001257377.1:p.Arg508Lys
XM_006721516.2:c.1679-1G>A	XP_006721579.2:n.1679-1G>A
XM_011523829.1:c.1577-1G>A	XP_011522131.1:n.1577-1G>A
XM_011523830.1:c.1649G>A	XP_011522132.1:p.Arg550Lys
XR_934021.1:n.1854G>A
XR_934022.1:n.1760G>A
XR_934023.1:n.1688-1G>A
XM_006721516.3:c.1679-1G>A	XP_006721579.2:n.1679-1G>A
XM_011523829.2:c.1577-1G>A	XP_011522131.1:n.1577-1G>A
XM_011523830.2:c.1649G>A	XP_011522132.1:p.Arg550Lys
XM_024450741.1:c.1739G>A	XP_024306509.1:p.Arg580Lys
XR_934021.2:n.1806G>A
XR_934022.2:n.1712G>A
XR_934023.2:n.1640-1G>A
NM_000018.4:c.1751G>A MANE Select	NP_000009.1:p.Arg584Lys
NM_001033859.3:c.1685G>A	NP_001029031.1:p.Arg562Lys
NM_001270447.2:c.1820G>A	NP_001257376.1:p.Arg607Lys
NM_001270448.2:c.1523G>A	NP_001257377.1:p.Arg508Lys