Canonical Allele Identifier: CA497694531

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2735952
• ClinVar RCV Id: RCV003499980
• MyVariant Identifiers: chr17:g.7128287G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224968G>T , CM000679.2:g.7224968G>T	GRCh38
NC_000017.10:g.7128287G>T , CM000679.1:g.7128287G>T	GRCh37
NC_000017.9:g.7069011G>T	NCBI36
NG_007975.1:g.10135G>T
NG_008391.2:g.83C>A
NG_033038.1:g.14577C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1839G>T MANE Select	ENSP00000349297.5:p.Arg613=
ENST00000322910.9:c.*1794G>T	ENSP00000325395.5:n.*1794G>T
ENST00000350303.9:c.1773G>T	ENSP00000344152.5:p.Arg591=
ENST00000356839.9:c.1839G>T	ENSP00000349297.5:p.Arg613=
ENST00000542255.6:c.718G>T
ENST00000543245.6:c.1908G>T	ENSP00000438689.2:p.Arg636=
ENST00000578033.1:n.264G>T
ENST00000578319.5:n.420G>T
ENST00000578711.1:n.1464G>T
ENST00000578809.5:n.411G>T
ENST00000579425.5:n.955G>T
ENST00000579546.1:c.574G>T
ENST00000583848.5:c.205G>T	ENSP00000466487.1:n.205G>T
ENST00000583850.5:n.610G>T
ENST00000583858.5:c.770G>T
NM_000018.3:c.1839G>T	NP_000009.1:p.Arg613=
NM_001033859.2:c.1773G>T	NP_001029031.1:p.Arg591=
NM_001270447.1:c.1908G>T	NP_001257376.1:p.Arg636=
NM_001270448.1:c.1611G>T	NP_001257377.1:p.Arg537=
XM_006721516.2:c.1860G>T	XP_006721579.2:p.Arg620=
XM_011523829.1:c.1758G>T	XP_011522131.1:p.Arg586=
XM_011523830.1:c.1737G>T	XP_011522132.1:p.Arg579=
XR_934021.1:n.1942G>T
XR_934022.1:n.1848G>T
XR_934023.1:n.1869G>T
XM_006721516.3:c.1860G>T	XP_006721579.2:p.Arg620=
XM_011523829.2:c.1758G>T	XP_011522131.1:p.Arg586=
XM_011523830.2:c.1737G>T	XP_011522132.1:p.Arg579=
XM_024450741.1:c.1827G>T	XP_024306509.1:p.Arg609=
XR_934021.2:n.1894G>T
XR_934022.2:n.1800G>T
XR_934023.2:n.1821G>T
NM_000018.4:c.1839G>T MANE Select	NP_000009.1:p.Arg613=
NM_001033859.3:c.1773G>T	NP_001029031.1:p.Arg591=
NM_001270447.2:c.1908G>T	NP_001257376.1:p.Arg636=
NM_001270448.2:c.1611G>T	NP_001257377.1:p.Arg537=