Canonical Allele Identifier: CA397725466

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127711T>A (hg19) ; chr17:g.7224392T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224392T>A , CM000679.2:g.7224392T>A	GRCh38
NC_000017.10:g.7127711T>A , CM000679.1:g.7127711T>A	GRCh37
NC_000017.9:g.7068435T>A	NCBI36
NG_007975.1:g.9559T>A
NG_008391.2:g.659A>T
NG_033038.1:g.15153A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1604T>A MANE Select	ENSP00000349297.5:p.Leu535Gln
ENST00000322910.9:c.*1559T>A	ENSP00000325395.5:n.*1559T>A
ENST00000350303.9:c.1538T>A	ENSP00000344152.5:p.Leu513Gln
ENST00000356839.9:c.1604T>A	ENSP00000349297.5:p.Leu535Gln
ENST00000542255.6:c.462T>A
ENST00000543245.6:c.1673T>A	ENSP00000438689.2:p.Leu558Gln
ENST00000578319.5:n.99T>A
ENST00000578711.1:n.888T>A
ENST00000578809.5:n.176T>A
ENST00000579391.1:n.212T>A
ENST00000579425.5:n.720T>A
ENST00000579546.1:c.343T>A
ENST00000579894.5:n.391T>A
ENST00000582450.1:n.112T>A
ENST00000583074.5:n.225T>A
ENST00000583850.5:n.379T>A
ENST00000583858.5:c.535T>A
ENST00000585203.6:n.795T>A
NM_000018.3:c.1604T>A	NP_000009.1:p.Leu535Gln
NM_001033859.2:c.1538T>A	NP_001029031.1:p.Leu513Gln
NM_001270447.1:c.1673T>A	NP_001257376.1:p.Leu558Gln
NM_001270448.1:c.1376T>A	NP_001257377.1:p.Leu459Gln
XM_006721516.2:c.1604T>A	XP_006721579.2:p.Leu535Gln
XM_011523829.1:c.1506T>A	XP_011522131.1:p.Ala502=
XM_011523830.1:c.1506T>A	XP_011522132.1:p.Ala502=
XR_934021.1:n.1711T>A
XR_934022.1:n.1613T>A
XR_934023.1:n.1613T>A
XM_006721516.3:c.1604T>A	XP_006721579.2:p.Leu535Gln
XM_011523829.2:c.1506T>A	XP_011522131.1:p.Ala502=
XM_011523830.2:c.1506T>A	XP_011522132.1:p.Ala502=
XM_024450741.1:c.1506T>A	XP_024306509.1:p.Ala502=
XR_934021.2:n.1663T>A
XR_934022.2:n.1565T>A
XR_934023.2:n.1565T>A
NM_000018.4:c.1604T>A MANE Select	NP_000009.1:p.Leu535Gln
NM_001033859.3:c.1538T>A	NP_001029031.1:p.Leu513Gln
NM_001270447.2:c.1673T>A	NP_001257376.1:p.Leu558Gln
NM_001270448.2:c.1376T>A	NP_001257377.1:p.Leu459Gln