Canonical Allele Identifier: CA397723634

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222185G>A , CM000679.2:g.7222185G>A	GRCh38
NC_000017.10:g.7125504G>A , CM000679.1:g.7125504G>A	GRCh37
NC_000017.9:g.7066228G>A	NCBI36
NG_007975.1:g.7352G>A
NG_008391.2:g.2866C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000018.4:c.761G>A MANE Select	NP_000009.1:p.Gly254Asp
ENST00000356839.10:c.761G>A MANE Select	ENSP00000349297.5:p.Gly254Asp
NM_000018.3:c.761G>A	NP_000009.1:p.Gly254Asp
NM_001033859.2:c.695G>A	NP_001029031.1:p.Gly232Asp
NM_001033859.3:c.695G>A	NP_001029031.1:p.Gly232Asp
NM_001270447.1:c.830G>A	NP_001257376.1:p.Gly277Asp
NM_001270447.2:c.830G>A	NP_001257376.1:p.Gly277Asp
NM_001270448.1:c.533G>A	NP_001257377.1:p.Gly178Asp
NM_001270448.2:c.533G>A	NP_001257377.1:p.Gly178Asp
ENST00000322910.9:c.*716G>A	ENSP00000325395.5:n.*716G>A
ENST00000350303.9:c.695G>A	ENSP00000344152.5:p.Gly232Asp
ENST00000356839.9:c.761G>A	ENSP00000349297.5:p.Gly254Asp
ENST00000543245.6:c.830G>A	ENSP00000438689.2:p.Gly277Asp
ENST00000577191.5:n.933G>A
ENST00000581378.5:c.479G>A
ENST00000582379.1:n.145G>A
XM_006721516.2:c.761G>A	XP_006721579.2:p.Gly254Asp
XM_006721516.3:c.761G>A	XP_006721579.2:p.Gly254Asp
XM_011523829.1:c.761G>A	XP_011522131.1:p.Gly254Asp
XM_011523829.2:c.761G>A	XP_011522131.1:p.Gly254Asp
XM_011523830.1:c.761G>A	XP_011522132.1:p.Gly254Asp
XM_011523830.2:c.761G>A	XP_011522132.1:p.Gly254Asp
XM_024450741.1:c.761G>A	XP_024306509.1:p.Gly254Asp
XR_934021.1:n.868G>A
XR_934021.2:n.820G>A
XR_934022.1:n.868G>A
XR_934022.2:n.820G>A
XR_934023.1:n.868G>A
XR_934023.2:n.820G>A