Canonical Allele Identifier: CA397725909

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128175A>G (hg19) ; chr17:g.7224856A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224856A>G , CM000679.2:g.7224856A>G	GRCh38
NC_000017.10:g.7128175A>G , CM000679.1:g.7128175A>G	GRCh37
NC_000017.9:g.7068899A>G	NCBI36
NG_007975.1:g.10023A>G
NG_008391.2:g.195T>C
NG_033038.1:g.14689T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1799A>G MANE Select	ENSP00000349297.5:p.Lys600Arg
ENST00000322910.9:c.*1754A>G	ENSP00000325395.5:n.*1754A>G
ENST00000350303.9:c.1733A>G	ENSP00000344152.5:p.Lys578Arg
ENST00000356839.9:c.1799A>G	ENSP00000349297.5:p.Lys600Arg
ENST00000542255.6:c.678A>G
ENST00000543245.6:c.1868A>G	ENSP00000438689.2:p.Lys623Arg
ENST00000578033.1:n.224A>G
ENST00000578319.5:n.380A>G
ENST00000578711.1:n.1352A>G
ENST00000578809.5:n.371A>G
ENST00000579425.5:n.915A>G
ENST00000579546.1:c.534A>G
ENST00000583848.5:c.165A>G	ENSP00000466487.1:n.165A>G
ENST00000583850.5:n.570A>G
ENST00000583858.5:c.730A>G
NM_000018.3:c.1799A>G	NP_000009.1:p.Lys600Arg
NM_001033859.2:c.1733A>G	NP_001029031.1:p.Lys578Arg
NM_001270447.1:c.1868A>G	NP_001257376.1:p.Lys623Arg
NM_001270448.1:c.1571A>G	NP_001257377.1:p.Lys524Arg
XM_006721516.2:c.1820A>G	XP_006721579.2:p.Lys607Arg
XM_011523829.1:c.1718A>G	XP_011522131.1:p.Lys573Arg
XM_011523830.1:c.1697A>G	XP_011522132.1:p.Lys566Arg
XR_934021.1:n.1902A>G
XR_934022.1:n.1808A>G
XR_934023.1:n.1829A>G
XM_006721516.3:c.1820A>G	XP_006721579.2:p.Lys607Arg
XM_011523829.2:c.1718A>G	XP_011522131.1:p.Lys573Arg
XM_011523830.2:c.1697A>G	XP_011522132.1:p.Lys566Arg
XM_024450741.1:c.1787A>G	XP_024306509.1:p.Lys596Arg
XR_934021.2:n.1854A>G
XR_934022.2:n.1760A>G
XR_934023.2:n.1781A>G
NM_000018.4:c.1799A>G MANE Select	NP_000009.1:p.Lys600Arg
NM_001033859.3:c.1733A>G	NP_001029031.1:p.Lys578Arg
NM_001270447.2:c.1868A>G	NP_001257376.1:p.Lys623Arg
NM_001270448.2:c.1571A>G	NP_001257377.1:p.Lys524Arg