Canonical Allele Identifier: CA497694440

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224658-G-A
• MyVariant Identifiers: chr17:g.7127977G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224658G>A , CM000679.2:g.7224658G>A	GRCh38
NC_000017.10:g.7127977G>A , CM000679.1:g.7127977G>A	GRCh37
NC_000017.9:g.7068701G>A	NCBI36
NG_007975.1:g.9825G>A
NG_008391.2:g.393C>T
NG_033038.1:g.14887C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1695G>A MANE Select	ENSP00000349297.5:p.Leu565=
ENST00000322910.9:c.*1650G>A	ENSP00000325395.5:n.*1650G>A
ENST00000350303.9:c.1629G>A	ENSP00000344152.5:p.Leu543=
ENST00000356839.9:c.1695G>A	ENSP00000349297.5:p.Leu565=
ENST00000542255.6:c.537-57G>A
ENST00000543245.6:c.1764G>A	ENSP00000438689.2:p.Leu588=
ENST00000578033.1:n.26G>A
ENST00000578319.5:n.276G>A
ENST00000578711.1:n.1154G>A
ENST00000578809.5:n.267G>A
ENST00000579425.5:n.811G>A
ENST00000579546.1:c.430G>A
ENST00000582450.1:n.292G>A
ENST00000583074.5:n.300-57G>A
ENST00000583848.5:c.65-4G>A	ENSP00000466487.1:n.65-4G>A
ENST00000583850.5:n.466G>A
ENST00000583858.5:c.626G>A
ENST00000585203.6:n.886G>A
NM_000018.3:c.1695G>A	NP_000009.1:p.Leu565=
NM_001033859.2:c.1629G>A	NP_001029031.1:p.Leu543=
NM_001270447.1:c.1764G>A	NP_001257376.1:p.Leu588=
NM_001270448.1:c.1467G>A	NP_001257377.1:p.Leu489=
XM_006721516.2:c.1679-57G>A	XP_006721579.2:n.1679-57G>A
XM_011523829.1:c.1577-57G>A	XP_011522131.1:n.1577-57G>A
XM_011523830.1:c.1593G>A	XP_011522132.1:p.Leu531=
XR_934021.1:n.1798G>A
XR_934022.1:n.1704G>A
XR_934023.1:n.1688-57G>A
XM_006721516.3:c.1679-57G>A	XP_006721579.2:n.1679-57G>A
XM_011523829.2:c.1577-57G>A	XP_011522131.1:n.1577-57G>A
XM_011523830.2:c.1593G>A	XP_011522132.1:p.Leu531=
XM_024450741.1:c.1683G>A	XP_024306509.1:p.Leu561=
XR_934021.2:n.1750G>A
XR_934022.2:n.1656G>A
XR_934023.2:n.1640-57G>A
NM_000018.4:c.1695G>A MANE Select	NP_000009.1:p.Leu565=
NM_001033859.3:c.1629G>A	NP_001029031.1:p.Leu543=
NM_001270447.2:c.1764G>A	NP_001257376.1:p.Leu588=
NM_001270448.2:c.1467G>A	NP_001257377.1:p.Leu489=