Canonical Allele Identifier: CA397726006

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2791540
• ClinVar RCV Id: RCV003600721
• MyVariant Identifiers: chr17:g.7128286G>T (hg19) ; chr17:g.7224967G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1838G>T MANE Select	ENSP00000349297.5:p.Arg613Leu
ENST00000322910.9:c.*1793G>T	ENSP00000325395.5:n.*1793G>T
ENST00000350303.9:c.1772G>T	ENSP00000344152.5:p.Arg591Leu
ENST00000356839.9:c.1838G>T	ENSP00000349297.5:p.Arg613Leu
ENST00000542255.6:c.717G>T
ENST00000543245.6:c.1907G>T	ENSP00000438689.2:p.Arg636Leu
ENST00000578033.1:n.263G>T
ENST00000578319.5:n.419G>T
ENST00000578711.1:n.1463G>T
ENST00000578809.5:n.410G>T
ENST00000579425.5:n.954G>T
ENST00000579546.1:c.573G>T
ENST00000583848.5:c.204G>T	ENSP00000466487.1:n.204G>T
ENST00000583850.5:n.609G>T
ENST00000583858.5:c.769G>T
NM_000018.3:c.1838G>T	NP_000009.1:p.Arg613Leu
NM_001033859.2:c.1772G>T	NP_001029031.1:p.Arg591Leu
NM_001270447.1:c.1907G>T	NP_001257376.1:p.Arg636Leu
NM_001270448.1:c.1610G>T	NP_001257377.1:p.Arg537Leu
XM_006721516.2:c.1859G>T	XP_006721579.2:p.Arg620Leu
XM_011523829.1:c.1757G>T	XP_011522131.1:p.Arg586Leu
XM_011523830.1:c.1736G>T	XP_011522132.1:p.Arg579Leu
XR_934021.1:n.1941G>T
XR_934022.1:n.1847G>T
XR_934023.1:n.1868G>T
XM_006721516.3:c.1859G>T	XP_006721579.2:p.Arg620Leu
XM_011523829.2:c.1757G>T	XP_011522131.1:p.Arg586Leu
XM_011523830.2:c.1736G>T	XP_011522132.1:p.Arg579Leu
XM_024450741.1:c.1826G>T	XP_024306509.1:p.Arg609Leu
XR_934021.2:n.1893G>T
XR_934022.2:n.1799G>T
XR_934023.2:n.1820G>T
NM_000018.4:c.1838G>T MANE Select	NP_000009.1:p.Arg613Leu
NM_001033859.3:c.1772G>T	NP_001029031.1:p.Arg591Leu
NM_001270447.2:c.1907G>T	NP_001257376.1:p.Arg636Leu
NM_001270448.2:c.1610G>T	NP_001257377.1:p.Arg537Leu