Canonical Allele Identifier: CA497694438

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1582555
• ClinVar RCV Id: RCV002091106
• dbSNP Id: rs2142989804
• gnomAD v4: 17-7224656-C-T
• MyVariant Identifiers: chr17:g.7127975C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224656C>T , CM000679.2:g.7224656C>T	GRCh38
NC_000017.10:g.7127975C>T , CM000679.1:g.7127975C>T	GRCh37
NC_000017.9:g.7068699C>T	NCBI36
NG_007975.1:g.9823C>T
NG_008391.2:g.395G>A
NG_033038.1:g.14889G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1693C>T MANE Select	ENSP00000349297.5:p.Leu565=
ENST00000322910.9:c.*1648C>T	ENSP00000325395.5:n.*1648C>T
ENST00000350303.9:c.1627C>T	ENSP00000344152.5:p.Leu543=
ENST00000356839.9:c.1693C>T	ENSP00000349297.5:p.Leu565=
ENST00000542255.6:c.537-59C>T
ENST00000543245.6:c.1762C>T	ENSP00000438689.2:p.Leu588=
ENST00000578033.1:n.24C>T
ENST00000578319.5:n.274C>T
ENST00000578711.1:n.1152C>T
ENST00000578809.5:n.265C>T
ENST00000579425.5:n.809C>T
ENST00000579546.1:c.428C>T
ENST00000582450.1:n.290C>T
ENST00000583074.5:n.300-59C>T
ENST00000583848.5:c.65-6C>T	ENSP00000466487.1:n.65-6C>T
ENST00000583850.5:n.464C>T
ENST00000583858.5:c.624C>T
ENST00000585203.6:n.884C>T
NM_000018.3:c.1693C>T	NP_000009.1:p.Leu565=
NM_001033859.2:c.1627C>T	NP_001029031.1:p.Leu543=
NM_001270447.1:c.1762C>T	NP_001257376.1:p.Leu588=
NM_001270448.1:c.1465C>T	NP_001257377.1:p.Leu489=
XM_006721516.2:c.1679-59C>T	XP_006721579.2:n.1679-59C>T
XM_011523829.1:c.1577-59C>T	XP_011522131.1:n.1577-59C>T
XM_011523830.1:c.1591C>T	XP_011522132.1:p.Leu531=
XR_934021.1:n.1796C>T
XR_934022.1:n.1702C>T
XR_934023.1:n.1688-59C>T
XM_006721516.3:c.1679-59C>T	XP_006721579.2:n.1679-59C>T
XM_011523829.2:c.1577-59C>T	XP_011522131.1:n.1577-59C>T
XM_011523830.2:c.1591C>T	XP_011522132.1:p.Leu531=
XM_024450741.1:c.1681C>T	XP_024306509.1:p.Leu561=
XR_934021.2:n.1748C>T
XR_934022.2:n.1654C>T
XR_934023.2:n.1640-59C>T
NM_000018.4:c.1693C>T MANE Select	NP_000009.1:p.Leu565=
NM_001033859.3:c.1627C>T	NP_001029031.1:p.Leu543=
NM_001270447.2:c.1762C>T	NP_001257376.1:p.Leu588=
NM_001270448.2:c.1465C>T	NP_001257377.1:p.Leu489=