Canonical Allele Identifier: CA2245716120

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224986C= , CM000679.2:g.7224986C=	GRCh38
NC_000017.10:g.7128305C= , CM000679.1:g.7128305C=	GRCh37
NC_000017.9:g.7069029C=	NCBI36
NG_007975.1:g.10153C=
NG_008391.2:g.65G=
NG_033038.1:g.14559G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1857C= MANE Select	ENSP00000349297.5:p.Ala619=
ENST00000322910.9:c.*1812C=	ENSP00000325395.5:n.*1812C=
ENST00000350303.9:c.1791C=	ENSP00000344152.5:p.Ala597=
ENST00000356839.9:c.1857C=	ENSP00000349297.5:p.Ala619=
ENST00000542255.6:c.736C=
ENST00000543245.6:c.1926C=	ENSP00000438689.2:p.Ala642=
ENST00000578033.1:n.282C=
ENST00000578319.5:n.438C=
ENST00000578711.1:n.1482C=
ENST00000578809.5:n.429C=
ENST00000579425.5:n.973C=
ENST00000583848.5:c.223C=	ENSP00000466487.1:n.223C=
ENST00000583850.5:n.628C=
ENST00000583858.5:c.788C=
NM_000018.3:c.1857C=	NP_000009.1:p.Ala619=
NM_001033859.2:c.1791C=	NP_001029031.1:p.Ala597=
NM_001270447.1:c.1926C=	NP_001257376.1:p.Ala642=
NM_001270448.1:c.1629C=	NP_001257377.1:p.Ala543=
XM_006721516.2:c.1878C=	XP_006721579.2:p.Ala626=
XM_011523829.1:c.1776C=	XP_011522131.1:p.Ala592=
XM_011523830.1:c.1755C=	XP_011522132.1:p.Ala585=
XR_934021.1:n.1960C=
XR_934022.1:n.1866C=
XR_934023.1:n.1887C=
XM_006721516.3:c.1878C=	XP_006721579.2:p.Ala626=
XM_011523829.2:c.1776C=	XP_011522131.1:p.Ala592=
XM_011523830.2:c.1755C=	XP_011522132.1:p.Ala585=
XM_024450741.1:c.1845C=	XP_024306509.1:p.Ala615=
XR_934021.2:n.1912C=
XR_934022.2:n.1818C=
XR_934023.2:n.1839C=
NM_000018.4:c.1857C= MANE Select	NP_000009.1:p.Ala619=
NM_001033859.3:c.1791C=	NP_001029031.1:p.Ala597=
NM_001270447.2:c.1926C=	NP_001257376.1:p.Ala642=
NM_001270448.2:c.1629C=	NP_001257377.1:p.Ala543=