Canonical Allele Identifier: CA397726247

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1025691
• ClinVar RCV Id: RCV001326035
• dbSNP Id: rs1417091241
• MyVariant Identifiers: chr17:g.7128401C>A (hg19) ; chr17:g.7225082C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225082C>A , CM000679.2:g.7225082C>A	GRCh38
NC_000017.10:g.7128401C>A , CM000679.1:g.7128401C>A	GRCh37
NC_000017.9:g.7069125C>A	NCBI36
NG_007975.1:g.10249C>A
NG_033038.1:g.14463G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1953C>A MANE Select	ENSP00000349297.5:p.Asn651Lys
ENST00000322910.9:c.*1908C>A	ENSP00000325395.5:n.*1908C>A
ENST00000350303.9:c.1887C>A	ENSP00000344152.5:p.Asn629Lys
ENST00000356839.9:c.1953C>A	ENSP00000349297.5:p.Asn651Lys
ENST00000542255.6:c.832C>A
ENST00000543245.6:c.2022C>A	ENSP00000438689.2:p.Asn674Lys
ENST00000578033.1:n.378C>A
ENST00000578319.5:n.534C>A
ENST00000578711.1:n.1578C>A
ENST00000578809.5:n.525C>A
ENST00000579425.5:n.1069C>A
ENST00000583848.5:c.319C>A	ENSP00000466487.1:n.319C>A
ENST00000583850.5:n.724C>A
ENST00000583858.5:c.884C>A
NM_000018.3:c.1953C>A	NP_000009.1:p.Asn651Lys
NM_001033859.2:c.1887C>A	NP_001029031.1:p.Asn629Lys
NM_001270447.1:c.2022C>A	NP_001257376.1:p.Asn674Lys
NM_001270448.1:c.1725C>A	NP_001257377.1:p.Asn575Lys
XM_006721516.2:c.1974C>A	XP_006721579.2:p.Asn658Lys
XM_011523829.1:c.1872C>A	XP_011522131.1:p.Asn624Lys
XM_011523830.1:c.1851C>A	XP_011522132.1:p.Asn617Lys
XR_934021.1:n.2056C>A
XR_934022.1:n.1962C>A
XR_934023.1:n.1983C>A
XM_006721516.3:c.1974C>A	XP_006721579.2:p.Asn658Lys
XM_011523829.2:c.1872C>A	XP_011522131.1:p.Asn624Lys
XM_011523830.2:c.1851C>A	XP_011522132.1:p.Asn617Lys
XM_024450741.1:c.1941C>A	XP_024306509.1:p.Asn647Lys
XR_934021.2:n.2008C>A
XR_934022.2:n.1914C>A
XR_934023.2:n.1935C>A
NM_000018.4:c.1953C>A MANE Select	NP_000009.1:p.Asn651Lys
NM_001033859.3:c.1887C>A	NP_001029031.1:p.Asn629Lys
NM_001270447.2:c.2022C>A	NP_001257376.1:p.Asn674Lys
NM_001270448.2:c.1725C>A	NP_001257377.1:p.Asn575Lys