Canonical Allele Identifier: CA397726271

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7225094-C-G
• MyVariant Identifiers: chr17:g.7128413C>G (hg19) ; chr17:g.7225094C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225094C>G , CM000679.2:g.7225094C>G	GRCh38
NC_000017.10:g.7128413C>G , CM000679.1:g.7128413C>G	GRCh37
NC_000017.9:g.7069137C>G	NCBI36
NG_007975.1:g.10261C>G
NG_033038.1:g.14451G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1965C>G MANE Select	ENSP00000349297.5:p.Phe655Leu
ENST00000322910.9:c.*1920C>G	ENSP00000325395.5:n.*1920C>G
ENST00000350303.9:c.1899C>G	ENSP00000344152.5:p.Phe633Leu
ENST00000356839.9:c.1965C>G	ENSP00000349297.5:p.Phe655Leu
ENST00000542255.6:c.844C>G
ENST00000543245.6:c.2034C>G	ENSP00000438689.2:p.Phe678Leu
ENST00000578033.1:n.390C>G
ENST00000578319.5:n.546C>G
ENST00000578711.1:n.1590C>G
ENST00000578809.5:n.537C>G
ENST00000579425.5:n.1081C>G
ENST00000583848.5:c.331C>G	ENSP00000466487.1:n.331C>G
ENST00000583850.5:n.736C>G
ENST00000583858.5:c.896C>G
NM_000018.3:c.1965C>G	NP_000009.1:p.Phe655Leu
NM_001033859.2:c.1899C>G	NP_001029031.1:p.Phe633Leu
NM_001270447.1:c.2034C>G	NP_001257376.1:p.Phe678Leu
NM_001270448.1:c.1737C>G	NP_001257377.1:p.Phe579Leu
XM_006721516.2:c.1986C>G	XP_006721579.2:p.Phe662Leu
XM_011523829.1:c.1884C>G	XP_011522131.1:p.Phe628Leu
XM_011523830.1:c.1863C>G	XP_011522132.1:p.Phe621Leu
XR_934021.1:n.2068C>G
XR_934022.1:n.1974C>G
XR_934023.1:n.1995C>G
XM_006721516.3:c.1986C>G	XP_006721579.2:p.Phe662Leu
XM_011523829.2:c.1884C>G	XP_011522131.1:p.Phe628Leu
XM_011523830.2:c.1863C>G	XP_011522132.1:p.Phe621Leu
XM_024450741.1:c.1953C>G	XP_024306509.1:p.Phe651Leu
XR_934021.2:n.2020C>G
XR_934022.2:n.1926C>G
XR_934023.2:n.1947C>G
NM_000018.4:c.1965C>G MANE Select	NP_000009.1:p.Phe655Leu
NM_001033859.3:c.1899C>G	NP_001029031.1:p.Phe633Leu
NM_001270447.2:c.2034C>G	NP_001257376.1:p.Phe678Leu
NM_001270448.2:c.1737C>G	NP_001257377.1:p.Phe579Leu