Canonical Allele Identifier: CA397725644

Gene: ACADVL

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224642A>T , CM000679.2:g.7224642A>T	GRCh38
NC_000017.10:g.7127961A>T , CM000679.1:g.7127961A>T	GRCh37
NC_000017.9:g.7068685A>T	NCBI36
NG_007975.1:g.9809A>T
NG_008391.2:g.409T>A
NG_033038.1:g.14903T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1679A>T MANE Select	ENSP00000349297.5:p.Asn560Ile
ENST00000322910.9:c.*1634A>T	ENSP00000325395.5:n.*1634A>T
ENST00000350303.9:c.1613A>T	ENSP00000344152.5:p.Asn538Ile
ENST00000356839.9:c.1679A>T	ENSP00000349297.5:p.Asn560Ile
ENST00000542255.6:c.537-73A>T
ENST00000543245.6:c.1748A>T	ENSP00000438689.2:p.Asn583Ile
ENST00000578033.1:n.10A>T
ENST00000578319.5:n.260A>T
ENST00000578711.1:n.1138A>T
ENST00000578809.5:n.251A>T
ENST00000579425.5:n.795A>T
ENST00000579546.1:c.414A>T
ENST00000582450.1:n.276A>T
ENST00000583074.5:n.300-73A>T
ENST00000583848.5:c.65-20A>T	ENSP00000466487.1:n.65-20A>T
ENST00000583850.5:n.450A>T
ENST00000583858.5:c.610A>T
ENST00000585203.6:n.870A>T
NM_000018.3:c.1679A>T	NP_000009.1:p.Asn560Ile
NM_001033859.2:c.1613A>T	NP_001029031.1:p.Asn538Ile
NM_001270447.1:c.1748A>T	NP_001257376.1:p.Asn583Ile
NM_001270448.1:c.1451A>T	NP_001257377.1:p.Asn484Ile
XM_006721516.2:c.1679-73A>T	XP_006721579.2:n.1679-73A>T
XM_011523829.1:c.1577-73A>T	XP_011522131.1:n.1577-73A>T
XM_011523830.1:c.1577A>T	XP_011522132.1:p.Asn526Ile
XR_934021.1:n.1782A>T
XR_934022.1:n.1688A>T
XR_934023.1:n.1688-73A>T
XM_006721516.3:c.1679-73A>T	XP_006721579.2:n.1679-73A>T
XM_011523829.2:c.1577-73A>T	XP_011522131.1:n.1577-73A>T
XM_011523830.2:c.1577A>T	XP_011522132.1:p.Asn526Ile
XM_024450741.1:c.1667A>T	XP_024306509.1:p.Asn556Ile
XR_934021.2:n.1734A>T
XR_934022.2:n.1640A>T
XR_934023.2:n.1640-73A>T
NM_000018.4:c.1679A>T MANE Select	NP_000009.1:p.Asn560Ile
NM_001033859.3:c.1613A>T	NP_001029031.1:p.Asn538Ile
NM_001270447.2:c.1748A>T	NP_001257376.1:p.Asn583Ile
NM_001270448.2:c.1451A>T	NP_001257377.1:p.Asn484Ile