Canonical Allele Identifier: CA397724240

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222837G>T , CM000679.2:g.7222837G>T	GRCh38
NC_000017.10:g.7126156G>T , CM000679.1:g.7126156G>T	GRCh37
NC_000017.9:g.7066880G>T	NCBI36
NG_007975.1:g.8004G>T
NG_008391.2:g.2214C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000018.4:c.1049G>T MANE Select	NP_000009.1:p.Gly350Val
ENST00000356839.10:c.1049G>T MANE Select	ENSP00000349297.5:p.Gly350Val
NM_000018.3:c.1049G>T	NP_000009.1:p.Gly350Val
NM_001033859.2:c.983G>T	NP_001029031.1:p.Gly328Val
NM_001033859.3:c.983G>T	NP_001029031.1:p.Gly328Val
NM_001270447.1:c.1118G>T	NP_001257376.1:p.Gly373Val
NM_001270447.2:c.1118G>T	NP_001257376.1:p.Gly373Val
NM_001270448.1:c.821G>T	NP_001257377.1:p.Gly274Val
NM_001270448.2:c.821G>T	NP_001257377.1:p.Gly274Val
ENST00000322910.9:c.*1004G>T	ENSP00000325395.5:n.*1004G>T
ENST00000350303.9:c.983G>T	ENSP00000344152.5:p.Gly328Val
ENST00000356839.9:c.1049G>T	ENSP00000349297.5:p.Gly350Val
ENST00000543245.6:c.1118G>T	ENSP00000438689.2:p.Gly373Val
ENST00000578824.5:n.198G>T
ENST00000582379.1:n.433G>T
ENST00000583858.5:c.78G>T
XM_006721516.2:c.1049G>T	XP_006721579.2:p.Gly350Val
XM_006721516.3:c.1049G>T	XP_006721579.2:p.Gly350Val
XM_011523829.1:c.1049G>T	XP_011522131.1:p.Gly350Val
XM_011523829.2:c.1049G>T	XP_011522131.1:p.Gly350Val
XM_011523830.1:c.1049G>T	XP_011522132.1:p.Gly350Val
XM_011523830.2:c.1049G>T	XP_011522132.1:p.Gly350Val
XM_024450741.1:c.1049G>T	XP_024306509.1:p.Gly350Val
XR_934021.1:n.1156G>T
XR_934021.2:n.1108G>T
XR_934022.1:n.1156G>T
XR_934022.2:n.1108G>T
XR_934023.1:n.1156G>T
XR_934023.2:n.1108G>T