Canonical Allele Identifier: CA497694595

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128392C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225073C>A , CM000679.2:g.7225073C>A	GRCh38
NC_000017.10:g.7128392C>A , CM000679.1:g.7128392C>A	GRCh37
NC_000017.9:g.7069116C>A	NCBI36
NG_007975.1:g.10240C>A
NG_033038.1:g.14472G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1944C>A MANE Select	ENSP00000349297.5:p.Val648=
ENST00000322910.9:c.*1899C>A	ENSP00000325395.5:n.*1899C>A
ENST00000350303.9:c.1878C>A	ENSP00000344152.5:p.Val626=
ENST00000356839.9:c.1944C>A	ENSP00000349297.5:p.Val648=
ENST00000542255.6:c.823C>A
ENST00000543245.6:c.2013C>A	ENSP00000438689.2:p.Val671=
ENST00000578033.1:n.369C>A
ENST00000578319.5:n.525C>A
ENST00000578711.1:n.1569C>A
ENST00000578809.5:n.516C>A
ENST00000579425.5:n.1060C>A
ENST00000583848.5:c.310C>A	ENSP00000466487.1:n.310C>A
ENST00000583850.5:n.715C>A
ENST00000583858.5:c.875C>A
NM_000018.3:c.1944C>A	NP_000009.1:p.Val648=
NM_001033859.2:c.1878C>A	NP_001029031.1:p.Val626=
NM_001270447.1:c.2013C>A	NP_001257376.1:p.Val671=
NM_001270448.1:c.1716C>A	NP_001257377.1:p.Val572=
XM_006721516.2:c.1965C>A	XP_006721579.2:p.Val655=
XM_011523829.1:c.1863C>A	XP_011522131.1:p.Val621=
XM_011523830.1:c.1842C>A	XP_011522132.1:p.Val614=
XR_934021.1:n.2047C>A
XR_934022.1:n.1953C>A
XR_934023.1:n.1974C>A
XM_006721516.3:c.1965C>A	XP_006721579.2:p.Val655=
XM_011523829.2:c.1863C>A	XP_011522131.1:p.Val621=
XM_011523830.2:c.1842C>A	XP_011522132.1:p.Val614=
XM_024450741.1:c.1932C>A	XP_024306509.1:p.Val644=
XR_934021.2:n.1999C>A
XR_934022.2:n.1905C>A
XR_934023.2:n.1926C>A
NM_000018.4:c.1944C>A MANE Select	NP_000009.1:p.Val648=
NM_001033859.3:c.1878C>A	NP_001029031.1:p.Val626=
NM_001270447.2:c.2013C>A	NP_001257376.1:p.Val671=
NM_001270448.2:c.1716C>A	NP_001257377.1:p.Val572=