Canonical Allele Identifier: CA397725718

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 3032516
• ClinVar RCV Id: RCV003902204
• gnomAD v4: 17-7224678-C-T
• MyVariant Identifiers: chr17:g.7127997C>T (hg19) ; chr17:g.7224678C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224678C>T , CM000679.2:g.7224678C>T	GRCh38
NC_000017.10:g.7127997C>T , CM000679.1:g.7127997C>T	GRCh37
NC_000017.9:g.7068721C>T	NCBI36
NG_007975.1:g.9845C>T
NG_008391.2:g.373G>A
NG_033038.1:g.14867G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1715C>T MANE Select	ENSP00000349297.5:p.Ala572Val
ENST00000322910.9:c.*1670C>T	ENSP00000325395.5:n.*1670C>T
ENST00000350303.9:c.1649C>T	ENSP00000344152.5:p.Ala550Val
ENST00000356839.9:c.1715C>T	ENSP00000349297.5:p.Ala572Val
ENST00000542255.6:c.537-37C>T
ENST00000543245.6:c.1784C>T	ENSP00000438689.2:p.Ala595Val
ENST00000578033.1:n.46C>T
ENST00000578319.5:n.296C>T
ENST00000578711.1:n.1174C>T
ENST00000578809.5:n.287C>T
ENST00000579425.5:n.831C>T
ENST00000579546.1:c.450C>T
ENST00000583074.5:n.300-37C>T
ENST00000583848.5:c.81C>T	ENSP00000466487.1:p.Gly27=
ENST00000583850.5:n.486C>T
ENST00000583858.5:c.646C>T
ENST00000585203.6:n.906C>T
NM_000018.3:c.1715C>T	NP_000009.1:p.Ala572Val
NM_001033859.2:c.1649C>T	NP_001029031.1:p.Ala550Val
NM_001270447.1:c.1784C>T	NP_001257376.1:p.Ala595Val
NM_001270448.1:c.1487C>T	NP_001257377.1:p.Ala496Val
XM_006721516.2:c.1679-37C>T	XP_006721579.2:n.1679-37C>T
XM_011523829.1:c.1577-37C>T	XP_011522131.1:n.1577-37C>T
XM_011523830.1:c.1613C>T	XP_011522132.1:p.Ala538Val
XR_934021.1:n.1818C>T
XR_934022.1:n.1724C>T
XR_934023.1:n.1688-37C>T
XM_006721516.3:c.1679-37C>T	XP_006721579.2:n.1679-37C>T
XM_011523829.2:c.1577-37C>T	XP_011522131.1:n.1577-37C>T
XM_011523830.2:c.1613C>T	XP_011522132.1:p.Ala538Val
XM_024450741.1:c.1703C>T	XP_024306509.1:p.Ala568Val
XR_934021.2:n.1770C>T
XR_934022.2:n.1676C>T
XR_934023.2:n.1640-37C>T
NM_000018.4:c.1715C>T MANE Select	NP_000009.1:p.Ala572Val
NM_001033859.3:c.1649C>T	NP_001029031.1:p.Ala550Val
NM_001270447.2:c.1784C>T	NP_001257376.1:p.Ala595Val
NM_001270448.2:c.1487C>T	NP_001257377.1:p.Ala496Val