Canonical Allele Identifier: CA8338313

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1302622
• ClinVar RCV Id: RCV001756296 ; RCV001882814 ; RCV002266009
• dbSNP Id: rs774762384
• ExAC: 17:7128379 G / A
• gnomAD v2: 17-7128379-G-A
• gnomAD v3: 17-7225060-G-A
• gnomAD v4: 17-7225060-G-A
• MyVariant Identifiers: chr17:g.7128379G>A (hg19) ; chr17:g.7225060G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225060G>A , CM000679.2:g.7225060G>A	GRCh38
NC_000017.10:g.7128379G>A , CM000679.1:g.7128379G>A	GRCh37
NC_000017.9:g.7069103G>A	NCBI36
NG_007975.1:g.10227G>A
NG_033038.1:g.14485C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1931G>A MANE Select	ENSP00000349297.5:p.Arg644Gln
ENST00000322910.9:c.*1886G>A	ENSP00000325395.5:n.*1886G>A
ENST00000350303.9:c.1865G>A	ENSP00000344152.5:p.Arg622Gln
ENST00000356839.9:c.1931G>A	ENSP00000349297.5:p.Arg644Gln
ENST00000542255.6:c.810G>A
ENST00000543245.6:c.2000G>A	ENSP00000438689.2:p.Arg667Gln
ENST00000578033.1:n.356G>A
ENST00000578319.5:n.512G>A
ENST00000578711.1:n.1556G>A
ENST00000578809.5:n.503G>A
ENST00000579425.5:n.1047G>A
ENST00000583848.5:c.297G>A	ENSP00000466487.1:n.297G>A
ENST00000583850.5:n.702G>A
ENST00000583858.5:c.862G>A
NM_000018.3:c.1931G>A	NP_000009.1:p.Arg644Gln
NM_001033859.2:c.1865G>A	NP_001029031.1:p.Arg622Gln
NM_001270447.1:c.2000G>A	NP_001257376.1:p.Arg667Gln
NM_001270448.1:c.1703G>A	NP_001257377.1:p.Arg568Gln
XM_006721516.2:c.1952G>A	XP_006721579.2:p.Arg651Gln
XM_011523829.1:c.1850G>A	XP_011522131.1:p.Arg617Gln
XM_011523830.1:c.1829G>A	XP_011522132.1:p.Arg610Gln
XR_934021.1:n.2034G>A
XR_934022.1:n.1940G>A
XR_934023.1:n.1961G>A
XM_006721516.3:c.1952G>A	XP_006721579.2:p.Arg651Gln
XM_011523829.2:c.1850G>A	XP_011522131.1:p.Arg617Gln
XM_011523830.2:c.1829G>A	XP_011522132.1:p.Arg610Gln
XM_024450741.1:c.1919G>A	XP_024306509.1:p.Arg640Gln
XR_934021.2:n.1986G>A
XR_934022.2:n.1892G>A
XR_934023.2:n.1913G>A
NM_000018.4:c.1931G>A MANE Select	NP_000009.1:p.Arg644Gln
NM_001033859.3:c.1865G>A	NP_001029031.1:p.Arg622Gln
NM_001270447.2:c.2000G>A	NP_001257376.1:p.Arg667Gln
NM_001270448.2:c.1703G>A	NP_001257377.1:p.Arg568Gln