Canonical Allele Identifier: CA397724452

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223199A>G , CM000679.2:g.7223199A>G	GRCh38
NC_000017.10:g.7126518A>G , CM000679.1:g.7126518A>G	GRCh37
NC_000017.9:g.7067242A>G	NCBI36
NG_007975.1:g.8366A>G
NG_008391.2:g.1852T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000018.4:c.1144A>G MANE Select	NP_000009.1:p.Lys382Glu
ENST00000356839.10:c.1144A>G MANE Select	ENSP00000349297.5:p.Lys382Glu
NM_000018.3:c.1144A>G	NP_000009.1:p.Lys382Glu
NM_001033859.2:c.1078A>G	NP_001029031.1:p.Lys360Glu
NM_001033859.3:c.1078A>G	NP_001029031.1:p.Lys360Glu
NM_001270447.1:c.1213A>G	NP_001257376.1:p.Lys405Glu
NM_001270447.2:c.1213A>G	NP_001257376.1:p.Lys405Glu
NM_001270448.1:c.916A>G	NP_001257377.1:p.Lys306Glu
NM_001270448.2:c.916A>G	NP_001257377.1:p.Lys306Glu
ENST00000322910.9:c.*1099A>G	ENSP00000325395.5:n.*1099A>G
ENST00000350303.9:c.1078A>G	ENSP00000344152.5:p.Lys360Glu
ENST00000356839.9:c.1144A>G	ENSP00000349297.5:p.Lys382Glu
ENST00000542255.6:c.2A>G
ENST00000543245.6:c.1213A>G	ENSP00000438689.2:p.Lys405Glu
ENST00000578579.2:n.93A>G
ENST00000578824.5:n.560A>G
ENST00000579425.5:n.168A>G
ENST00000582379.1:n.795A>G
ENST00000583858.5:c.173A>G
ENST00000585203.6:n.352A>G
XM_006721516.2:c.1144A>G	XP_006721579.2:p.Lys382Glu
XM_006721516.3:c.1144A>G	XP_006721579.2:p.Lys382Glu
XM_011523829.1:c.1144A>G	XP_011522131.1:p.Lys382Glu
XM_011523829.2:c.1144A>G	XP_011522131.1:p.Lys382Glu
XM_011523830.1:c.1144A>G	XP_011522132.1:p.Lys382Glu
XM_011523830.2:c.1144A>G	XP_011522132.1:p.Lys382Glu
XM_024450741.1:c.1144A>G	XP_024306509.1:p.Lys382Glu
XR_934021.1:n.1251A>G
XR_934021.2:n.1203A>G
XR_934022.1:n.1251A>G
XR_934022.2:n.1203A>G
XR_934023.1:n.1251A>G
XR_934023.2:n.1203A>G