Canonical Allele Identifier: CA497694597

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1668698
• ClinVar RCV Id: RCV002196071
• dbSNP Id: rs1171256173
• gnomAD v2: 17-7128392-C-T
• gnomAD v4: 17-7225073-C-T
• MyVariant Identifiers: chr17:g.7128392C>T (hg19) ; chr17:g.7225073C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225073C>T , CM000679.2:g.7225073C>T	GRCh38
NC_000017.10:g.7128392C>T , CM000679.1:g.7128392C>T	GRCh37
NC_000017.9:g.7069116C>T	NCBI36
NG_007975.1:g.10240C>T
NG_033038.1:g.14472G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1944C>T MANE Select	ENSP00000349297.5:p.Val648=
ENST00000322910.9:c.*1899C>T	ENSP00000325395.5:n.*1899C>T
ENST00000350303.9:c.1878C>T	ENSP00000344152.5:p.Val626=
ENST00000356839.9:c.1944C>T	ENSP00000349297.5:p.Val648=
ENST00000542255.6:c.823C>T
ENST00000543245.6:c.2013C>T	ENSP00000438689.2:p.Val671=
ENST00000578033.1:n.369C>T
ENST00000578319.5:n.525C>T
ENST00000578711.1:n.1569C>T
ENST00000578809.5:n.516C>T
ENST00000579425.5:n.1060C>T
ENST00000583848.5:c.310C>T	ENSP00000466487.1:n.310C>T
ENST00000583850.5:n.715C>T
ENST00000583858.5:c.875C>T
NM_000018.3:c.1944C>T	NP_000009.1:p.Val648=
NM_001033859.2:c.1878C>T	NP_001029031.1:p.Val626=
NM_001270447.1:c.2013C>T	NP_001257376.1:p.Val671=
NM_001270448.1:c.1716C>T	NP_001257377.1:p.Val572=
XM_006721516.2:c.1965C>T	XP_006721579.2:p.Val655=
XM_011523829.1:c.1863C>T	XP_011522131.1:p.Val621=
XM_011523830.1:c.1842C>T	XP_011522132.1:p.Val614=
XR_934021.1:n.2047C>T
XR_934022.1:n.1953C>T
XR_934023.1:n.1974C>T
XM_006721516.3:c.1965C>T	XP_006721579.2:p.Val655=
XM_011523829.2:c.1863C>T	XP_011522131.1:p.Val621=
XM_011523830.2:c.1842C>T	XP_011522132.1:p.Val614=
XM_024450741.1:c.1932C>T	XP_024306509.1:p.Val644=
XR_934021.2:n.1999C>T
XR_934022.2:n.1905C>T
XR_934023.2:n.1926C>T
NM_000018.4:c.1944C>T MANE Select	NP_000009.1:p.Val648=
NM_001033859.3:c.1878C>T	NP_001029031.1:p.Val626=
NM_001270447.2:c.2013C>T	NP_001257376.1:p.Val671=
NM_001270448.2:c.1716C>T	NP_001257377.1:p.Val572=