Canonical Allele Identifier: CA397726126

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7225024-G-T
• MyVariant Identifiers: chr17:g.7128343G>T (hg19) ; chr17:g.7225024G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225024G>T , CM000679.2:g.7225024G>T	GRCh38
NC_000017.10:g.7128343G>T , CM000679.1:g.7128343G>T	GRCh37
NC_000017.9:g.7069067G>T	NCBI36
NG_007975.1:g.10191G>T
NG_008391.2:g.27C>A
NG_033038.1:g.14521C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1895G>T MANE Select	ENSP00000349297.5:p.Arg632Leu
ENST00000322910.9:c.*1850G>T	ENSP00000325395.5:n.*1850G>T
ENST00000350303.9:c.1829G>T	ENSP00000344152.5:p.Arg610Leu
ENST00000356839.9:c.1895G>T	ENSP00000349297.5:p.Arg632Leu
ENST00000542255.6:c.774G>T
ENST00000543245.6:c.1964G>T	ENSP00000438689.2:p.Arg655Leu
ENST00000578033.1:n.320G>T
ENST00000578319.5:n.476G>T
ENST00000578711.1:n.1520G>T
ENST00000578809.5:n.467G>T
ENST00000579425.5:n.1011G>T
ENST00000583848.5:c.261G>T	ENSP00000466487.1:n.261G>T
ENST00000583850.5:n.666G>T
ENST00000583858.5:c.826G>T
NM_000018.3:c.1895G>T	NP_000009.1:p.Arg632Leu
NM_001033859.2:c.1829G>T	NP_001029031.1:p.Arg610Leu
NM_001270447.1:c.1964G>T	NP_001257376.1:p.Arg655Leu
NM_001270448.1:c.1667G>T	NP_001257377.1:p.Arg556Leu
XM_006721516.2:c.1916G>T	XP_006721579.2:p.Arg639Leu
XM_011523829.1:c.1814G>T	XP_011522131.1:p.Arg605Leu
XM_011523830.1:c.1793G>T	XP_011522132.1:p.Arg598Leu
XR_934021.1:n.1998G>T
XR_934022.1:n.1904G>T
XR_934023.1:n.1925G>T
XM_006721516.3:c.1916G>T	XP_006721579.2:p.Arg639Leu
XM_011523829.2:c.1814G>T	XP_011522131.1:p.Arg605Leu
XM_011523830.2:c.1793G>T	XP_011522132.1:p.Arg598Leu
XM_024450741.1:c.1883G>T	XP_024306509.1:p.Arg628Leu
XR_934021.2:n.1950G>T
XR_934022.2:n.1856G>T
XR_934023.2:n.1877G>T
NM_000018.4:c.1895G>T MANE Select	NP_000009.1:p.Arg632Leu
NM_001033859.3:c.1829G>T	NP_001029031.1:p.Arg610Leu
NM_001270447.2:c.1964G>T	NP_001257376.1:p.Arg655Leu
NM_001270448.2:c.1667G>T	NP_001257377.1:p.Arg556Leu