Canonical Allele Identifier: CA397725684

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224660-A-G
• MyVariant Identifiers: chr17:g.7127979A>G (hg19) ; chr17:g.7224660A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224660A>G , CM000679.2:g.7224660A>G	GRCh38
NC_000017.10:g.7127979A>G , CM000679.1:g.7127979A>G	GRCh37
NC_000017.9:g.7068703A>G	NCBI36
NG_007975.1:g.9827A>G
NG_008391.2:g.391T>C
NG_033038.1:g.14885T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1697A>G MANE Select	ENSP00000349297.5:p.Gln566Arg
ENST00000322910.9:c.*1652A>G	ENSP00000325395.5:n.*1652A>G
ENST00000350303.9:c.1631A>G	ENSP00000344152.5:p.Gln544Arg
ENST00000356839.9:c.1697A>G	ENSP00000349297.5:p.Gln566Arg
ENST00000542255.6:c.537-55A>G
ENST00000543245.6:c.1766A>G	ENSP00000438689.2:p.Gln589Arg
ENST00000578033.1:n.28A>G
ENST00000578319.5:n.278A>G
ENST00000578711.1:n.1156A>G
ENST00000578809.5:n.269A>G
ENST00000579425.5:n.813A>G
ENST00000579546.1:c.432A>G
ENST00000582450.1:n.294A>G
ENST00000583074.5:n.300-55A>G
ENST00000583848.5:c.65-2A>G	ENSP00000466487.1:n.65-2A>G
ENST00000583850.5:n.468A>G
ENST00000583858.5:c.628A>G
ENST00000585203.6:n.888A>G
NM_000018.3:c.1697A>G	NP_000009.1:p.Gln566Arg
NM_001033859.2:c.1631A>G	NP_001029031.1:p.Gln544Arg
NM_001270447.1:c.1766A>G	NP_001257376.1:p.Gln589Arg
NM_001270448.1:c.1469A>G	NP_001257377.1:p.Gln490Arg
XM_006721516.2:c.1679-55A>G	XP_006721579.2:n.1679-55A>G
XM_011523829.1:c.1577-55A>G	XP_011522131.1:n.1577-55A>G
XM_011523830.1:c.1595A>G	XP_011522132.1:p.Gln532Arg
XR_934021.1:n.1800A>G
XR_934022.1:n.1706A>G
XR_934023.1:n.1688-55A>G
XM_006721516.3:c.1679-55A>G	XP_006721579.2:n.1679-55A>G
XM_011523829.2:c.1577-55A>G	XP_011522131.1:n.1577-55A>G
XM_011523830.2:c.1595A>G	XP_011522132.1:p.Gln532Arg
XM_024450741.1:c.1685A>G	XP_024306509.1:p.Gln562Arg
XR_934021.2:n.1752A>G
XR_934022.2:n.1658A>G
XR_934023.2:n.1640-55A>G
NM_000018.4:c.1697A>G MANE Select	NP_000009.1:p.Gln566Arg
NM_001033859.3:c.1631A>G	NP_001029031.1:p.Gln544Arg
NM_001270447.2:c.1766A>G	NP_001257376.1:p.Gln589Arg
NM_001270448.2:c.1469A>G	NP_001257377.1:p.Gln490Arg