Canonical Allele Identifier: CA8338295

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 618502
• ClinVar RCV Id: RCV000756953 ; RCV001060887
• dbSNP Id: rs534647044
• ExAC: 17:7128286 G / A
• gnomAD v2: 17-7128286-G-A
• gnomAD v3: 17-7224967-G-A
• gnomAD v4: 17-7224967-G-A
• MyVariant Identifiers: chr17:g.7128286G>A (hg19) ; chr17:g.7224967G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224967G>A , CM000679.2:g.7224967G>A	GRCh38
NC_000017.10:g.7128286G>A , CM000679.1:g.7128286G>A	GRCh37
NC_000017.9:g.7069010G>A	NCBI36
NG_007975.1:g.10134G>A
NG_008391.2:g.84C>T
NG_033038.1:g.14578C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1838G>A MANE Select	ENSP00000349297.5:p.Arg613Gln
ENST00000322910.9:c.*1793G>A	ENSP00000325395.5:n.*1793G>A
ENST00000350303.9:c.1772G>A	ENSP00000344152.5:p.Arg591Gln
ENST00000356839.9:c.1838G>A	ENSP00000349297.5:p.Arg613Gln
ENST00000542255.6:c.717G>A
ENST00000543245.6:c.1907G>A	ENSP00000438689.2:p.Arg636Gln
ENST00000578033.1:n.263G>A
ENST00000578319.5:n.419G>A
ENST00000578711.1:n.1463G>A
ENST00000578809.5:n.410G>A
ENST00000579425.5:n.954G>A
ENST00000579546.1:c.573G>A
ENST00000583848.5:c.204G>A	ENSP00000466487.1:n.204G>A
ENST00000583850.5:n.609G>A
ENST00000583858.5:c.769G>A
NM_000018.3:c.1838G>A	NP_000009.1:p.Arg613Gln
NM_001033859.2:c.1772G>A	NP_001029031.1:p.Arg591Gln
NM_001270447.1:c.1907G>A	NP_001257376.1:p.Arg636Gln
NM_001270448.1:c.1610G>A	NP_001257377.1:p.Arg537Gln
XM_006721516.2:c.1859G>A	XP_006721579.2:p.Arg620Gln
XM_011523829.1:c.1757G>A	XP_011522131.1:p.Arg586Gln
XM_011523830.1:c.1736G>A	XP_011522132.1:p.Arg579Gln
XR_934021.1:n.1941G>A
XR_934022.1:n.1847G>A
XR_934023.1:n.1868G>A
XM_006721516.3:c.1859G>A	XP_006721579.2:p.Arg620Gln
XM_011523829.2:c.1757G>A	XP_011522131.1:p.Arg586Gln
XM_011523830.2:c.1736G>A	XP_011522132.1:p.Arg579Gln
XM_024450741.1:c.1826G>A	XP_024306509.1:p.Arg609Gln
XR_934021.2:n.1893G>A
XR_934022.2:n.1799G>A
XR_934023.2:n.1820G>A
NM_000018.4:c.1838G>A MANE Select	NP_000009.1:p.Arg613Gln
NM_001033859.3:c.1772G>A	NP_001029031.1:p.Arg591Gln
NM_001270447.2:c.1907G>A	NP_001257376.1:p.Arg636Gln
NM_001270448.2:c.1610G>A	NP_001257377.1:p.Arg537Gln