Canonical Allele Identifier: CA397726013

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1998435
• ClinVar RCV Id: RCV002810458
• MyVariant Identifiers: chr17:g.7128290C>G (hg19) ; chr17:g.7224971C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224971C>G , CM000679.2:g.7224971C>G	GRCh38
NC_000017.10:g.7128290C>G , CM000679.1:g.7128290C>G	GRCh37
NC_000017.9:g.7069014C>G	NCBI36
NG_007975.1:g.10138C>G
NG_008391.2:g.80G>C
NG_033038.1:g.14574G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1842C>G MANE Select	ENSP00000349297.5:p.Ile614Met
ENST00000322910.9:c.*1797C>G	ENSP00000325395.5:n.*1797C>G
ENST00000350303.9:c.1776C>G	ENSP00000344152.5:p.Ile592Met
ENST00000356839.9:c.1842C>G	ENSP00000349297.5:p.Ile614Met
ENST00000542255.6:c.721C>G
ENST00000543245.6:c.1911C>G	ENSP00000438689.2:p.Ile637Met
ENST00000578033.1:n.267C>G
ENST00000578319.5:n.423C>G
ENST00000578711.1:n.1467C>G
ENST00000578809.5:n.414C>G
ENST00000579425.5:n.958C>G
ENST00000579546.1:c.577C>G
ENST00000583848.5:c.208C>G	ENSP00000466487.1:n.208C>G
ENST00000583850.5:n.613C>G
ENST00000583858.5:c.773C>G
NM_000018.3:c.1842C>G	NP_000009.1:p.Ile614Met
NM_001033859.2:c.1776C>G	NP_001029031.1:p.Ile592Met
NM_001270447.1:c.1911C>G	NP_001257376.1:p.Ile637Met
NM_001270448.1:c.1614C>G	NP_001257377.1:p.Ile538Met
XM_006721516.2:c.1863C>G	XP_006721579.2:p.Ile621Met
XM_011523829.1:c.1761C>G	XP_011522131.1:p.Ile587Met
XM_011523830.1:c.1740C>G	XP_011522132.1:p.Ile580Met
XR_934021.1:n.1945C>G
XR_934022.1:n.1851C>G
XR_934023.1:n.1872C>G
XM_006721516.3:c.1863C>G	XP_006721579.2:p.Ile621Met
XM_011523829.2:c.1761C>G	XP_011522131.1:p.Ile587Met
XM_011523830.2:c.1740C>G	XP_011522132.1:p.Ile580Met
XM_024450741.1:c.1830C>G	XP_024306509.1:p.Ile610Met
XR_934021.2:n.1897C>G
XR_934022.2:n.1803C>G
XR_934023.2:n.1824C>G
NM_000018.4:c.1842C>G MANE Select	NP_000009.1:p.Ile614Met
NM_001033859.3:c.1776C>G	NP_001029031.1:p.Ile592Met
NM_001270447.2:c.1911C>G	NP_001257376.1:p.Ile637Met
NM_001270448.2:c.1614C>G	NP_001257377.1:p.Ile538Met