Canonical Allele Identifier: CA397725419

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224370-G-A
• MyVariant Identifiers: chr17:g.7127689G>A (hg19) ; chr17:g.7224370G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224370G>A , CM000679.2:g.7224370G>A	GRCh38
NC_000017.10:g.7127689G>A , CM000679.1:g.7127689G>A	GRCh37
NC_000017.9:g.7068413G>A	NCBI36
NG_007975.1:g.9537G>A
NG_008391.2:g.681C>T
NG_033038.1:g.15175C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1582G>A MANE Select	ENSP00000349297.5:p.Glu528Lys
ENST00000322910.9:c.*1537G>A	ENSP00000325395.5:n.*1537G>A
ENST00000350303.9:c.1516G>A	ENSP00000344152.5:p.Glu506Lys
ENST00000356839.9:c.1582G>A	ENSP00000349297.5:p.Glu528Lys
ENST00000542255.6:c.440G>A
ENST00000543245.6:c.1651G>A	ENSP00000438689.2:p.Glu551Lys
ENST00000578319.5:n.77G>A
ENST00000578711.1:n.866G>A
ENST00000578809.5:n.154G>A
ENST00000579391.1:n.190G>A
ENST00000579425.5:n.698G>A
ENST00000579546.1:c.321G>A
ENST00000579894.5:n.369G>A
ENST00000582450.1:n.90G>A
ENST00000583074.5:n.203G>A
ENST00000583850.5:n.357G>A
ENST00000583858.5:c.513G>A
ENST00000585203.6:n.773G>A
NM_000018.3:c.1582G>A	NP_000009.1:p.Glu528Lys
NM_001033859.2:c.1516G>A	NP_001029031.1:p.Glu506Lys
NM_001270447.1:c.1651G>A	NP_001257376.1:p.Glu551Lys
NM_001270448.1:c.1354G>A	NP_001257377.1:p.Glu452Lys
XM_006721516.2:c.1582G>A	XP_006721579.2:p.Glu528Lys
XM_011523829.1:c.1484G>A	XP_011522131.1:p.Gly495Glu
XM_011523830.1:c.1484G>A	XP_011522132.1:p.Gly495Glu
XR_934021.1:n.1689G>A
XR_934022.1:n.1591G>A
XR_934023.1:n.1591G>A
XM_006721516.3:c.1582G>A	XP_006721579.2:p.Glu528Lys
XM_011523829.2:c.1484G>A	XP_011522131.1:p.Gly495Glu
XM_011523830.2:c.1484G>A	XP_011522132.1:p.Gly495Glu
XM_024450741.1:c.1484G>A	XP_024306509.1:p.Gly495Glu
XR_934021.2:n.1641G>A
XR_934022.2:n.1543G>A
XR_934023.2:n.1543G>A
NM_000018.4:c.1582G>A MANE Select	NP_000009.1:p.Glu528Lys
NM_001033859.3:c.1516G>A	NP_001029031.1:p.Glu506Lys
NM_001270447.2:c.1651G>A	NP_001257376.1:p.Glu551Lys
NM_001270448.2:c.1354G>A	NP_001257377.1:p.Glu452Lys