Canonical Allele Identifier: CA397725661

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224649-G-T
• MyVariant Identifiers: chr17:g.7127968G>T (hg19) ; chr17:g.7224649G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224649G>T , CM000679.2:g.7224649G>T	GRCh38
NC_000017.10:g.7127968G>T , CM000679.1:g.7127968G>T	GRCh37
NC_000017.9:g.7068692G>T	NCBI36
NG_007975.1:g.9816G>T
NG_008391.2:g.402C>A
NG_033038.1:g.14896C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1686G>T MANE Select	ENSP00000349297.5:p.Gln562His
ENST00000322910.9:c.*1641G>T	ENSP00000325395.5:n.*1641G>T
ENST00000350303.9:c.1620G>T	ENSP00000344152.5:p.Gln540His
ENST00000356839.9:c.1686G>T	ENSP00000349297.5:p.Gln562His
ENST00000542255.6:c.537-66G>T
ENST00000543245.6:c.1755G>T	ENSP00000438689.2:p.Gln585His
ENST00000578033.1:n.17G>T
ENST00000578319.5:n.267G>T
ENST00000578711.1:n.1145G>T
ENST00000578809.5:n.258G>T
ENST00000579425.5:n.802G>T
ENST00000579546.1:c.421G>T
ENST00000582450.1:n.283G>T
ENST00000583074.5:n.300-66G>T
ENST00000583848.5:c.65-13G>T	ENSP00000466487.1:n.65-13G>T
ENST00000583850.5:n.457G>T
ENST00000583858.5:c.617G>T
ENST00000585203.6:n.877G>T
NM_000018.3:c.1686G>T	NP_000009.1:p.Gln562His
NM_001033859.2:c.1620G>T	NP_001029031.1:p.Gln540His
NM_001270447.1:c.1755G>T	NP_001257376.1:p.Gln585His
NM_001270448.1:c.1458G>T	NP_001257377.1:p.Gln486His
XM_006721516.2:c.1679-66G>T	XP_006721579.2:n.1679-66G>T
XM_011523829.1:c.1577-66G>T	XP_011522131.1:n.1577-66G>T
XM_011523830.1:c.1584G>T	XP_011522132.1:p.Gln528His
XR_934021.1:n.1789G>T
XR_934022.1:n.1695G>T
XR_934023.1:n.1688-66G>T
XM_006721516.3:c.1679-66G>T	XP_006721579.2:n.1679-66G>T
XM_011523829.2:c.1577-66G>T	XP_011522131.1:n.1577-66G>T
XM_011523830.2:c.1584G>T	XP_011522132.1:p.Gln528His
XM_024450741.1:c.1674G>T	XP_024306509.1:p.Gln558His
XR_934021.2:n.1741G>T
XR_934022.2:n.1647G>T
XR_934023.2:n.1640-66G>T
NM_000018.4:c.1686G>T MANE Select	NP_000009.1:p.Gln562His
NM_001033859.3:c.1620G>T	NP_001029031.1:p.Gln540His
NM_001270447.2:c.1755G>T	NP_001257376.1:p.Gln585His
NM_001270448.2:c.1458G>T	NP_001257377.1:p.Gln486His