Canonical Allele Identifier: CA497694443

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128203G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224884G>A , CM000679.2:g.7224884G>A	GRCh38
NC_000017.10:g.7128203G>A , CM000679.1:g.7128203G>A	GRCh37
NC_000017.9:g.7068927G>A	NCBI36
NG_007975.1:g.10051G>A
NG_008391.2:g.167C>T
NG_033038.1:g.14661C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1827G>A MANE Select	ENSP00000349297.5:p.Glu609=
ENST00000322910.9:c.*1782G>A	ENSP00000325395.5:n.*1782G>A
ENST00000350303.9:c.1761G>A	ENSP00000344152.5:p.Glu587=
ENST00000356839.9:c.1827G>A	ENSP00000349297.5:p.Glu609=
ENST00000542255.6:c.706G>A
ENST00000543245.6:c.1896G>A	ENSP00000438689.2:p.Glu632=
ENST00000578033.1:n.252G>A
ENST00000578319.5:n.408G>A
ENST00000578711.1:n.1380G>A
ENST00000578809.5:n.399G>A
ENST00000579425.5:n.943G>A
ENST00000579546.1:c.562G>A
ENST00000583848.5:c.193G>A	ENSP00000466487.1:n.193G>A
ENST00000583850.5:n.598G>A
ENST00000583858.5:c.758G>A
NM_000018.3:c.1827G>A	NP_000009.1:p.Glu609=
NM_001033859.2:c.1761G>A	NP_001029031.1:p.Glu587=
NM_001270447.1:c.1896G>A	NP_001257376.1:p.Glu632=
NM_001270448.1:c.1599G>A	NP_001257377.1:p.Glu533=
XM_006721516.2:c.1848G>A	XP_006721579.2:p.Glu616=
XM_011523829.1:c.1746G>A	XP_011522131.1:p.Glu582=
XM_011523830.1:c.1725G>A	XP_011522132.1:p.Glu575=
XR_934021.1:n.1930G>A
XR_934022.1:n.1836G>A
XR_934023.1:n.1857G>A
XM_006721516.3:c.1848G>A	XP_006721579.2:p.Glu616=
XM_011523829.2:c.1746G>A	XP_011522131.1:p.Glu582=
XM_011523830.2:c.1725G>A	XP_011522132.1:p.Glu575=
XM_024450741.1:c.1815G>A	XP_024306509.1:p.Glu605=
XR_934021.2:n.1882G>A
XR_934022.2:n.1788G>A
XR_934023.2:n.1809G>A
NM_000018.4:c.1827G>A MANE Select	NP_000009.1:p.Glu609=
NM_001033859.3:c.1761G>A	NP_001029031.1:p.Glu587=
NM_001270447.2:c.1896G>A	NP_001257376.1:p.Glu632=
NM_001270448.2:c.1599G>A	NP_001257377.1:p.Glu533=