Canonical Allele Identifier: CA497694289

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2975993
• ClinVar RCV Id: RCV003834079
• MyVariant Identifiers: chr17:g.7128028C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224709C>T , CM000679.2:g.7224709C>T	GRCh38
NC_000017.10:g.7128028C>T , CM000679.1:g.7128028C>T	GRCh37
NC_000017.9:g.7068752C>T	NCBI36
NG_007975.1:g.9876C>T
NG_008391.2:g.342G>A
NG_033038.1:g.14836G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1746C>T MANE Select	ENSP00000349297.5:p.Leu582=
ENST00000322910.9:c.*1701C>T	ENSP00000325395.5:n.*1701C>T
ENST00000350303.9:c.1680C>T	ENSP00000344152.5:p.Leu560=
ENST00000356839.9:c.1746C>T	ENSP00000349297.5:p.Leu582=
ENST00000542255.6:c.537-6C>T
ENST00000543245.6:c.1815C>T	ENSP00000438689.2:p.Leu605=
ENST00000578033.1:n.77C>T
ENST00000578319.5:n.327C>T
ENST00000578711.1:n.1205C>T
ENST00000578809.5:n.318C>T
ENST00000579425.5:n.862C>T
ENST00000579546.1:c.481C>T
ENST00000583074.5:n.300-6C>T
ENST00000583848.5:c.112C>T	ENSP00000466487.1:p.Leu38Phe
ENST00000583850.5:n.517C>T
ENST00000583858.5:c.677C>T
ENST00000585203.6:n.937C>T
NM_000018.3:c.1746C>T	NP_000009.1:p.Leu582=
NM_001033859.2:c.1680C>T	NP_001029031.1:p.Leu560=
NM_001270447.1:c.1815C>T	NP_001257376.1:p.Leu605=
NM_001270448.1:c.1518C>T	NP_001257377.1:p.Leu506=
XM_006721516.2:c.1679-6C>T	XP_006721579.2:n.1679-6C>T
XM_011523829.1:c.1577-6C>T	XP_011522131.1:n.1577-6C>T
XM_011523830.1:c.1644C>T	XP_011522132.1:p.Leu548=
XR_934021.1:n.1849C>T
XR_934022.1:n.1755C>T
XR_934023.1:n.1688-6C>T
XM_006721516.3:c.1679-6C>T	XP_006721579.2:n.1679-6C>T
XM_011523829.2:c.1577-6C>T	XP_011522131.1:n.1577-6C>T
XM_011523830.2:c.1644C>T	XP_011522132.1:p.Leu548=
XM_024450741.1:c.1734C>T	XP_024306509.1:p.Leu578=
XR_934021.2:n.1801C>T
XR_934022.2:n.1707C>T
XR_934023.2:n.1640-6C>T
NM_000018.4:c.1746C>T MANE Select	NP_000009.1:p.Leu582=
NM_001033859.3:c.1680C>T	NP_001029031.1:p.Leu560=
NM_001270447.2:c.1815C>T	NP_001257376.1:p.Leu605=
NM_001270448.2:c.1518C>T	NP_001257377.1:p.Leu506=