Canonical Allele Identifier: CA397723811

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7125589T>A (hg19) ; chr17:g.7222270T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222270T>A , CM000679.2:g.7222270T>A	GRCh38
NC_000017.10:g.7125589T>A , CM000679.1:g.7125589T>A	GRCh37
NC_000017.9:g.7066313T>A	NCBI36
NG_007975.1:g.7437T>A
NG_008391.2:g.2781A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.846T>A MANE Select	ENSP00000349297.5:p.Phe282Leu
ENST00000322910.9:c.*801T>A	ENSP00000325395.5:n.*801T>A
ENST00000350303.9:c.780T>A	ENSP00000344152.5:p.Phe260Leu
ENST00000356839.9:c.846T>A	ENSP00000349297.5:p.Phe282Leu
ENST00000543245.6:c.915T>A	ENSP00000438689.2:p.Phe305Leu
ENST00000577191.5:n.1018T>A
ENST00000581378.5:c.564T>A
ENST00000582379.1:n.230T>A
NM_000018.3:c.846T>A	NP_000009.1:p.Phe282Leu
NM_001033859.2:c.780T>A	NP_001029031.1:p.Phe260Leu
NM_001270447.1:c.915T>A	NP_001257376.1:p.Phe305Leu
NM_001270448.1:c.618T>A	NP_001257377.1:p.Phe206Leu
XM_006721516.2:c.846T>A	XP_006721579.2:p.Phe282Leu
XM_011523829.1:c.846T>A	XP_011522131.1:p.Phe282Leu
XM_011523830.1:c.846T>A	XP_011522132.1:p.Phe282Leu
XR_934021.1:n.953T>A
XR_934022.1:n.953T>A
XR_934023.1:n.953T>A
XM_006721516.3:c.846T>A	XP_006721579.2:p.Phe282Leu
XM_011523829.2:c.846T>A	XP_011522131.1:p.Phe282Leu
XM_011523830.2:c.846T>A	XP_011522132.1:p.Phe282Leu
XM_024450741.1:c.846T>A	XP_024306509.1:p.Phe282Leu
XR_934021.2:n.905T>A
XR_934022.2:n.905T>A
XR_934023.2:n.905T>A
NM_000018.4:c.846T>A MANE Select	NP_000009.1:p.Phe282Leu
NM_001033859.3:c.780T>A	NP_001029031.1:p.Phe260Leu
NM_001270447.2:c.915T>A	NP_001257376.1:p.Phe305Leu
NM_001270448.2:c.618T>A	NP_001257377.1:p.Phe206Leu