Canonical Allele Identifier: CA397725733

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128005C>A (hg19) ; chr17:g.7224686C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224686C>A , CM000679.2:g.7224686C>A	GRCh38
NC_000017.10:g.7128005C>A , CM000679.1:g.7128005C>A	GRCh37
NC_000017.9:g.7068729C>A	NCBI36
NG_007975.1:g.9853C>A
NG_008391.2:g.365G>T
NG_033038.1:g.14859G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1723C>A MANE Select	ENSP00000349297.5:p.Leu575Ile
ENST00000322910.9:c.*1678C>A	ENSP00000325395.5:n.*1678C>A
ENST00000350303.9:c.1657C>A	ENSP00000344152.5:p.Leu553Ile
ENST00000356839.9:c.1723C>A	ENSP00000349297.5:p.Leu575Ile
ENST00000542255.6:c.537-29C>A
ENST00000543245.6:c.1792C>A	ENSP00000438689.2:p.Leu598Ile
ENST00000578033.1:n.54C>A
ENST00000578319.5:n.304C>A
ENST00000578711.1:n.1182C>A
ENST00000578809.5:n.295C>A
ENST00000579425.5:n.839C>A
ENST00000579546.1:c.458C>A
ENST00000583074.5:n.300-29C>A
ENST00000583848.5:c.89C>A	ENSP00000466487.1:p.Pro30His
ENST00000583850.5:n.494C>A
ENST00000583858.5:c.654C>A
ENST00000585203.6:n.914C>A
NM_000018.3:c.1723C>A	NP_000009.1:p.Leu575Ile
NM_001033859.2:c.1657C>A	NP_001029031.1:p.Leu553Ile
NM_001270447.1:c.1792C>A	NP_001257376.1:p.Leu598Ile
NM_001270448.1:c.1495C>A	NP_001257377.1:p.Leu499Ile
XM_006721516.2:c.1679-29C>A	XP_006721579.2:n.1679-29C>A
XM_011523829.1:c.1577-29C>A	XP_011522131.1:n.1577-29C>A
XM_011523830.1:c.1621C>A	XP_011522132.1:p.Leu541Ile
XR_934021.1:n.1826C>A
XR_934022.1:n.1732C>A
XR_934023.1:n.1688-29C>A
XM_006721516.3:c.1679-29C>A	XP_006721579.2:n.1679-29C>A
XM_011523829.2:c.1577-29C>A	XP_011522131.1:n.1577-29C>A
XM_011523830.2:c.1621C>A	XP_011522132.1:p.Leu541Ile
XM_024450741.1:c.1711C>A	XP_024306509.1:p.Leu571Ile
XR_934021.2:n.1778C>A
XR_934022.2:n.1684C>A
XR_934023.2:n.1640-29C>A
NM_000018.4:c.1723C>A MANE Select	NP_000009.1:p.Leu575Ile
NM_001033859.3:c.1657C>A	NP_001029031.1:p.Leu553Ile
NM_001270447.2:c.1792C>A	NP_001257376.1:p.Leu598Ile
NM_001270448.2:c.1495C>A	NP_001257377.1:p.Leu499Ile