Canonical Allele Identifier: CA2245714551

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224531A= , CM000679.2:g.7224531A=	GRCh38
NC_000017.10:g.7127850A= , CM000679.1:g.7127850A=	GRCh37
NC_000017.9:g.7068574A=	NCBI36
NG_007975.1:g.9698A=
NG_008391.2:g.520T=
NG_033038.1:g.15014T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1657A= MANE Select	ENSP00000349297.5:p.Lys553=
ENST00000322910.9:c.*1612A=	ENSP00000325395.5:n.*1612A=
ENST00000350303.9:c.1591A=	ENSP00000344152.5:p.Lys531=
ENST00000356839.9:c.1657A=	ENSP00000349297.5:p.Lys553=
ENST00000542255.6:c.515A=
ENST00000543245.6:c.1726A=	ENSP00000438689.2:p.Lys576=
ENST00000578319.5:n.238A=
ENST00000578711.1:n.1027A=
ENST00000578809.5:n.229A=
ENST00000579391.1:n.261A=
ENST00000579425.5:n.773A=
ENST00000579546.1:c.392A=
ENST00000582450.1:n.165A=
ENST00000583074.5:n.278A=
ENST00000583848.5:c.43A=	ENSP00000466487.1:p.Lys15=
ENST00000583850.5:n.428A=
ENST00000583858.5:c.588A=
ENST00000585203.6:n.848A=
NM_000018.3:c.1657A=	NP_000009.1:p.Lys553=
NM_001033859.2:c.1591A=	NP_001029031.1:p.Lys531=
NM_001270447.1:c.1726A=	NP_001257376.1:p.Lys576=
NM_001270448.1:c.1429A=	NP_001257377.1:p.Lys477=
XM_006721516.2:c.1657A=	XP_006721579.2:p.Lys553=
XM_011523829.1:c.1555A=	XP_011522131.1:p.Lys519=
XM_011523830.1:c.1555A=	XP_011522132.1:p.Lys519=
XR_934021.1:n.1760A=
XR_934022.1:n.1666A=
XR_934023.1:n.1666A=
XM_006721516.3:c.1657A=	XP_006721579.2:p.Lys553=
XM_011523829.2:c.1555A=	XP_011522131.1:p.Lys519=
XM_011523830.2:c.1555A=	XP_011522132.1:p.Lys519=
XM_024450741.1:c.1645A=	XP_024306509.1:p.Lys549=
XR_934021.2:n.1712A=
XR_934022.2:n.1618A=
XR_934023.2:n.1618A=
NM_000018.4:c.1657A= MANE Select	NP_000009.1:p.Lys553=
NM_001033859.3:c.1591A=	NP_001029031.1:p.Lys531=
NM_001270447.2:c.1726A=	NP_001257376.1:p.Lys576=
NM_001270448.2:c.1429A=	NP_001257377.1:p.Lys477=