Canonical Allele Identifier: CA397725948

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224871-C-T
• MyVariant Identifiers: chr17:g.7128190C>T (hg19) ; chr17:g.7224871C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224871C>T , CM000679.2:g.7224871C>T	GRCh38
NC_000017.10:g.7128190C>T , CM000679.1:g.7128190C>T	GRCh37
NC_000017.9:g.7068914C>T	NCBI36
NG_007975.1:g.10038C>T
NG_008391.2:g.180G>A
NG_033038.1:g.14674G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1814C>T MANE Select	ENSP00000349297.5:p.Thr605Ile
ENST00000322910.9:c.*1769C>T	ENSP00000325395.5:n.*1769C>T
ENST00000350303.9:c.1748C>T	ENSP00000344152.5:p.Thr583Ile
ENST00000356839.9:c.1814C>T	ENSP00000349297.5:p.Thr605Ile
ENST00000542255.6:c.693C>T
ENST00000543245.6:c.1883C>T	ENSP00000438689.2:p.Thr628Ile
ENST00000578033.1:n.239C>T
ENST00000578319.5:n.395C>T
ENST00000578711.1:n.1367C>T
ENST00000578809.5:n.386C>T
ENST00000579425.5:n.930C>T
ENST00000579546.1:c.549C>T
ENST00000583848.5:c.180C>T	ENSP00000466487.1:n.180C>T
ENST00000583850.5:n.585C>T
ENST00000583858.5:c.745C>T
NM_000018.3:c.1814C>T	NP_000009.1:p.Thr605Ile
NM_001033859.2:c.1748C>T	NP_001029031.1:p.Thr583Ile
NM_001270447.1:c.1883C>T	NP_001257376.1:p.Thr628Ile
NM_001270448.1:c.1586C>T	NP_001257377.1:p.Thr529Ile
XM_006721516.2:c.1835C>T	XP_006721579.2:p.Thr612Ile
XM_011523829.1:c.1733C>T	XP_011522131.1:p.Thr578Ile
XM_011523830.1:c.1712C>T	XP_011522132.1:p.Thr571Ile
XR_934021.1:n.1917C>T
XR_934022.1:n.1823C>T
XR_934023.1:n.1844C>T
XM_006721516.3:c.1835C>T	XP_006721579.2:p.Thr612Ile
XM_011523829.2:c.1733C>T	XP_011522131.1:p.Thr578Ile
XM_011523830.2:c.1712C>T	XP_011522132.1:p.Thr571Ile
XM_024450741.1:c.1802C>T	XP_024306509.1:p.Thr601Ile
XR_934021.2:n.1869C>T
XR_934022.2:n.1775C>T
XR_934023.2:n.1796C>T
NM_000018.4:c.1814C>T MANE Select	NP_000009.1:p.Thr605Ile
NM_001033859.3:c.1748C>T	NP_001029031.1:p.Thr583Ile
NM_001270447.2:c.1883C>T	NP_001257376.1:p.Thr628Ile
NM_001270448.2:c.1586C>T	NP_001257377.1:p.Thr529Ile