Canonical Allele Identifier: CA397725680

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224659-C-A
• MyVariant Identifiers: chr17:g.7127978C>A (hg19) ; chr17:g.7224659C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224659C>A , CM000679.2:g.7224659C>A	GRCh38
NC_000017.10:g.7127978C>A , CM000679.1:g.7127978C>A	GRCh37
NC_000017.9:g.7068702C>A	NCBI36
NG_007975.1:g.9826C>A
NG_008391.2:g.392G>T
NG_033038.1:g.14886G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1696C>A MANE Select	ENSP00000349297.5:p.Gln566Lys
ENST00000322910.9:c.*1651C>A	ENSP00000325395.5:n.*1651C>A
ENST00000350303.9:c.1630C>A	ENSP00000344152.5:p.Gln544Lys
ENST00000356839.9:c.1696C>A	ENSP00000349297.5:p.Gln566Lys
ENST00000542255.6:c.537-56C>A
ENST00000543245.6:c.1765C>A	ENSP00000438689.2:p.Gln589Lys
ENST00000578033.1:n.27C>A
ENST00000578319.5:n.277C>A
ENST00000578711.1:n.1155C>A
ENST00000578809.5:n.268C>A
ENST00000579425.5:n.812C>A
ENST00000579546.1:c.431C>A
ENST00000582450.1:n.293C>A
ENST00000583074.5:n.300-56C>A
ENST00000583848.5:c.65-3C>A	ENSP00000466487.1:n.65-3C>A
ENST00000583850.5:n.467C>A
ENST00000583858.5:c.627C>A
ENST00000585203.6:n.887C>A
NM_000018.3:c.1696C>A	NP_000009.1:p.Gln566Lys
NM_001033859.2:c.1630C>A	NP_001029031.1:p.Gln544Lys
NM_001270447.1:c.1765C>A	NP_001257376.1:p.Gln589Lys
NM_001270448.1:c.1468C>A	NP_001257377.1:p.Gln490Lys
XM_006721516.2:c.1679-56C>A	XP_006721579.2:n.1679-56C>A
XM_011523829.1:c.1577-56C>A	XP_011522131.1:n.1577-56C>A
XM_011523830.1:c.1594C>A	XP_011522132.1:p.Gln532Lys
XR_934021.1:n.1799C>A
XR_934022.1:n.1705C>A
XR_934023.1:n.1688-56C>A
XM_006721516.3:c.1679-56C>A	XP_006721579.2:n.1679-56C>A
XM_011523829.2:c.1577-56C>A	XP_011522131.1:n.1577-56C>A
XM_011523830.2:c.1594C>A	XP_011522132.1:p.Gln532Lys
XM_024450741.1:c.1684C>A	XP_024306509.1:p.Gln562Lys
XR_934021.2:n.1751C>A
XR_934022.2:n.1657C>A
XR_934023.2:n.1640-56C>A
NM_000018.4:c.1696C>A MANE Select	NP_000009.1:p.Gln566Lys
NM_001033859.3:c.1630C>A	NP_001029031.1:p.Gln544Lys
NM_001270447.2:c.1765C>A	NP_001257376.1:p.Gln589Lys
NM_001270448.2:c.1468C>A	NP_001257377.1:p.Gln490Lys