Canonical Allele Identifier: CA497694341

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127846G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224527G>A , CM000679.2:g.7224527G>A	GRCh38
NC_000017.10:g.7127846G>A , CM000679.1:g.7127846G>A	GRCh37
NC_000017.9:g.7068570G>A	NCBI36
NG_007975.1:g.9694G>A
NG_008391.2:g.524C>T
NG_033038.1:g.15018C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1653G>A MANE Select	ENSP00000349297.5:p.Leu551=
ENST00000322910.9:c.*1608G>A	ENSP00000325395.5:n.*1608G>A
ENST00000350303.9:c.1587G>A	ENSP00000344152.5:p.Leu529=
ENST00000356839.9:c.1653G>A	ENSP00000349297.5:p.Leu551=
ENST00000542255.6:c.511G>A
ENST00000543245.6:c.1722G>A	ENSP00000438689.2:p.Leu574=
ENST00000578319.5:n.234G>A
ENST00000578711.1:n.1023G>A
ENST00000578809.5:n.225G>A
ENST00000579391.1:n.257G>A
ENST00000579425.5:n.769G>A
ENST00000579546.1:c.388G>A
ENST00000582450.1:n.161G>A
ENST00000583074.5:n.274G>A
ENST00000583848.5:c.39G>A	ENSP00000466487.1:p.Leu13=
ENST00000583850.5:n.424G>A
ENST00000583858.5:c.584G>A
ENST00000585203.6:n.844G>A
NM_000018.3:c.1653G>A	NP_000009.1:p.Leu551=
NM_001033859.2:c.1587G>A	NP_001029031.1:p.Leu529=
NM_001270447.1:c.1722G>A	NP_001257376.1:p.Leu574=
NM_001270448.1:c.1425G>A	NP_001257377.1:p.Leu475=
XM_006721516.2:c.1653G>A	XP_006721579.2:p.Leu551=
XM_011523829.1:c.1551G>A	XP_011522131.1:p.Leu517=
XM_011523830.1:c.1551G>A	XP_011522132.1:p.Leu517=
XR_934021.1:n.1756G>A
XR_934022.1:n.1662G>A
XR_934023.1:n.1662G>A
XM_006721516.3:c.1653G>A	XP_006721579.2:p.Leu551=
XM_011523829.2:c.1551G>A	XP_011522131.1:p.Leu517=
XM_011523830.2:c.1551G>A	XP_011522132.1:p.Leu517=
XM_024450741.1:c.1641G>A	XP_024306509.1:p.Leu547=
XR_934021.2:n.1708G>A
XR_934022.2:n.1614G>A
XR_934023.2:n.1614G>A
NM_000018.4:c.1653G>A MANE Select	NP_000009.1:p.Leu551=
NM_001033859.3:c.1587G>A	NP_001029031.1:p.Leu529=
NM_001270447.2:c.1722G>A	NP_001257376.1:p.Leu574=
NM_001270448.2:c.1425G>A	NP_001257377.1:p.Leu475=