Canonical Allele Identifier: CA8337650

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220813G>A , CM000679.2:g.7220813G>A	GRCh38
NC_000017.10:g.7124132G>A , CM000679.1:g.7124132G>A	GRCh37
NC_000017.9:g.7064856G>A	NCBI36
NG_007975.1:g.5980G>A
NG_008391.2:g.4238C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000018.4:c.325G>A MANE Select	NP_000009.1:p.Val109Met
ENST00000356839.10:c.325G>A MANE Select	ENSP00000349297.5:p.Val109Met
NM_000018.3:c.325G>A	NP_000009.1:p.Val109Met
NM_001033859.2:c.259G>A	NP_001029031.1:p.Val87Met
NM_001033859.3:c.259G>A	NP_001029031.1:p.Val87Met
NM_001270447.1:c.394G>A	NP_001257376.1:p.Val132Met
NM_001270447.2:c.394G>A	NP_001257376.1:p.Val132Met
NM_001270448.1:c.97G>A	NP_001257377.1:p.Val33Met
NM_001270448.2:c.97G>A	NP_001257377.1:p.Val33Met
ENST00000322910.9:c.*280G>A	ENSP00000325395.5:n.*280G>A
ENST00000350303.9:c.259G>A	ENSP00000344152.5:p.Val87Met
ENST00000356839.9:c.325G>A	ENSP00000349297.5:p.Val109Met
ENST00000543245.6:c.394G>A	ENSP00000438689.2:p.Val132Met
ENST00000577191.5:n.402G>A
ENST00000577433.5:n.533G>A
ENST00000577857.5:n.276G>A
ENST00000579286.5:n.506G>A
ENST00000579886.2:c.202-132G>A	ENSP00000463246.1:n.202-132G>A
ENST00000580365.1:n.56G>A
ENST00000581378.5:c.24G>A
ENST00000581562.5:n.372G>A
ENST00000582056.5:n.415G>A
ENST00000582166.1:n.213G>A
ENST00000582356.5:n.524G>A
ENST00000583312.5:c.325G>A	ENSP00000467920.1:p.Val109Met
ENST00000584103.5:c.325G>A	ENSP00000465353.1:p.Val109Met
XM_006721516.2:c.325G>A	XP_006721579.2:p.Val109Met
XM_006721516.3:c.325G>A	XP_006721579.2:p.Val109Met
XM_011523829.1:c.325G>A	XP_011522131.1:p.Val109Met
XM_011523829.2:c.325G>A	XP_011522131.1:p.Val109Met
XM_011523830.1:c.325G>A	XP_011522132.1:p.Val109Met
XM_011523830.2:c.325G>A	XP_011522132.1:p.Val109Met
XM_024450741.1:c.325G>A	XP_024306509.1:p.Val109Met
XR_934021.1:n.432G>A
XR_934021.2:n.384G>A
XR_934022.1:n.432G>A
XR_934022.2:n.384G>A
XR_934023.1:n.432G>A
XR_934023.2:n.384G>A