Canonical Allele Identifier: CA397725738

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128006T>G (hg19) ; chr17:g.7224687T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224687T>G , CM000679.2:g.7224687T>G	GRCh38
NC_000017.10:g.7128006T>G , CM000679.1:g.7128006T>G	GRCh37
NC_000017.9:g.7068730T>G	NCBI36
NG_007975.1:g.9854T>G
NG_008391.2:g.364A>C
NG_033038.1:g.14858A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1724T>G MANE Select	ENSP00000349297.5:p.Leu575Arg
ENST00000322910.9:c.*1679T>G	ENSP00000325395.5:n.*1679T>G
ENST00000350303.9:c.1658T>G	ENSP00000344152.5:p.Leu553Arg
ENST00000356839.9:c.1724T>G	ENSP00000349297.5:p.Leu575Arg
ENST00000542255.6:c.537-28T>G
ENST00000543245.6:c.1793T>G	ENSP00000438689.2:p.Leu598Arg
ENST00000578033.1:n.55T>G
ENST00000578319.5:n.305T>G
ENST00000578711.1:n.1183T>G
ENST00000578809.5:n.296T>G
ENST00000579425.5:n.840T>G
ENST00000579546.1:c.459T>G
ENST00000583074.5:n.300-28T>G
ENST00000583848.5:c.90T>G	ENSP00000466487.1:p.Pro30=
ENST00000583850.5:n.495T>G
ENST00000583858.5:c.655T>G
ENST00000585203.6:n.915T>G
NM_000018.3:c.1724T>G	NP_000009.1:p.Leu575Arg
NM_001033859.2:c.1658T>G	NP_001029031.1:p.Leu553Arg
NM_001270447.1:c.1793T>G	NP_001257376.1:p.Leu598Arg
NM_001270448.1:c.1496T>G	NP_001257377.1:p.Leu499Arg
XM_006721516.2:c.1679-28T>G	XP_006721579.2:n.1679-28T>G
XM_011523829.1:c.1577-28T>G	XP_011522131.1:n.1577-28T>G
XM_011523830.1:c.1622T>G	XP_011522132.1:p.Leu541Arg
XR_934021.1:n.1827T>G
XR_934022.1:n.1733T>G
XR_934023.1:n.1688-28T>G
XM_006721516.3:c.1679-28T>G	XP_006721579.2:n.1679-28T>G
XM_011523829.2:c.1577-28T>G	XP_011522131.1:n.1577-28T>G
XM_011523830.2:c.1622T>G	XP_011522132.1:p.Leu541Arg
XM_024450741.1:c.1712T>G	XP_024306509.1:p.Leu571Arg
XR_934021.2:n.1779T>G
XR_934022.2:n.1685T>G
XR_934023.2:n.1640-28T>G
NM_000018.4:c.1724T>G MANE Select	NP_000009.1:p.Leu575Arg
NM_001033859.3:c.1658T>G	NP_001029031.1:p.Leu553Arg
NM_001270447.2:c.1793T>G	NP_001257376.1:p.Leu598Arg
NM_001270448.2:c.1496T>G	NP_001257377.1:p.Leu499Arg