Canonical Allele Identifier: CA2808367687

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225109C>A , CM000679.2:g.7225109C>A	GRCh38
NC_000017.10:g.7128428C>A , CM000679.1:g.7128428C>A	GRCh37
NC_000017.9:g.7069152C>A	NCBI36
NG_007975.1:g.10276C>A
NG_033038.1:g.14436G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.*12C>A MANE Select	ENSP00000349297.5:n.*12C>A
ENST00000322910.9:c.*1935C>A	ENSP00000325395.5:n.*1935C>A
ENST00000350303.9:c.*12C>A	ENSP00000344152.5:n.*12C>A
ENST00000356839.9:c.*12C>A	ENSP00000349297.5:n.*12C>A
ENST00000542255.6:c.859C>A
ENST00000543245.6:c.*12C>A	ENSP00000438689.2:n.*12C>A
ENST00000578033.1:n.405C>A
ENST00000578319.5:n.561C>A
ENST00000578711.1:n.1605C>A
ENST00000578809.5:n.552C>A
ENST00000579425.5:n.1096C>A
ENST00000583848.5:c.346C>A	ENSP00000466487.1:n.346C>A
ENST00000583850.5:n.751C>A
ENST00000583858.5:c.911C>A
NM_000018.3:c.*12C>A	NP_000009.1:n.*12C>A
NM_001033859.2:c.*12C>A	NP_001029031.1:n.*12C>A
NM_001270447.1:c.*12C>A	NP_001257376.1:n.*12C>A
NM_001270448.1:c.*12C>A	NP_001257377.1:n.*12C>A
XM_006721516.2:c.*12C>A	XP_006721579.2:n.*12C>A
XM_011523829.1:c.*12C>A	XP_011522131.1:n.*12C>A
XM_011523830.1:c.*12C>A	XP_011522132.1:n.*12C>A
XR_934021.1:n.2083C>A
XR_934022.1:n.1989C>A
XR_934023.1:n.2010C>A
XM_006721516.3:c.*12C>A	XP_006721579.2:n.*12C>A
XM_011523829.2:c.*12C>A	XP_011522131.1:n.*12C>A
XM_011523830.2:c.*12C>A	XP_011522132.1:n.*12C>A
XM_024450741.1:c.*12C>A	XP_024306509.1:n.*12C>A
XR_934021.2:n.2035C>A
XR_934022.2:n.1941C>A
XR_934023.2:n.1962C>A
NM_000018.4:c.*12C>A MANE Select	NP_000009.1:n.*12C>A
NM_001033859.3:c.*12C>A	NP_001029031.1:n.*12C>A
NM_001270447.2:c.*12C>A	NP_001257376.1:n.*12C>A
NM_001270448.2:c.*12C>A	NP_001257377.1:n.*12C>A