Canonical Allele Identifier: CA287441457

Gene: ACADVL

Linked Data

• dbSNP Id: rs771122302
• gnomAD v4: 17-7225044-A-G
• MyVariant Identifiers: chr17:g.7128363A>G (hg19) ; chr17:g.7225044A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225044A>G , CM000679.2:g.7225044A>G	GRCh38
NC_000017.10:g.7128363A>G , CM000679.1:g.7128363A>G	GRCh37
NC_000017.9:g.7069087A>G	NCBI36
NG_007975.1:g.10211A>G
NG_008391.2:g.7T>C
NG_033038.1:g.14501T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1915A>G MANE Select	ENSP00000349297.5:p.Lys639Glu
ENST00000322910.9:c.*1870A>G	ENSP00000325395.5:n.*1870A>G
ENST00000350303.9:c.1849A>G	ENSP00000344152.5:p.Lys617Glu
ENST00000356839.9:c.1915A>G	ENSP00000349297.5:p.Lys639Glu
ENST00000542255.6:c.794A>G
ENST00000543245.6:c.1984A>G	ENSP00000438689.2:p.Lys662Glu
ENST00000578033.1:n.340A>G
ENST00000578319.5:n.496A>G
ENST00000578711.1:n.1540A>G
ENST00000578809.5:n.487A>G
ENST00000579425.5:n.1031A>G
ENST00000583848.5:c.281A>G	ENSP00000466487.1:n.281A>G
ENST00000583850.5:n.686A>G
ENST00000583858.5:c.846A>G
NM_000018.3:c.1915A>G	NP_000009.1:p.Lys639Glu
NM_001033859.2:c.1849A>G	NP_001029031.1:p.Lys617Glu
NM_001270447.1:c.1984A>G	NP_001257376.1:p.Lys662Glu
NM_001270448.1:c.1687A>G	NP_001257377.1:p.Lys563Glu
XM_006721516.2:c.1936A>G	XP_006721579.2:p.Lys646Glu
XM_011523829.1:c.1834A>G	XP_011522131.1:p.Lys612Glu
XM_011523830.1:c.1813A>G	XP_011522132.1:p.Lys605Glu
XR_934021.1:n.2018A>G
XR_934022.1:n.1924A>G
XR_934023.1:n.1945A>G
XM_006721516.3:c.1936A>G	XP_006721579.2:p.Lys646Glu
XM_011523829.2:c.1834A>G	XP_011522131.1:p.Lys612Glu
XM_011523830.2:c.1813A>G	XP_011522132.1:p.Lys605Glu
XM_024450741.1:c.1903A>G	XP_024306509.1:p.Lys635Glu
XR_934021.2:n.1970A>G
XR_934022.2:n.1876A>G
XR_934023.2:n.1897A>G
NM_000018.4:c.1915A>G MANE Select	NP_000009.1:p.Lys639Glu
NM_001033859.3:c.1849A>G	NP_001029031.1:p.Lys617Glu
NM_001270447.2:c.1984A>G	NP_001257376.1:p.Lys662Glu
NM_001270448.2:c.1687A>G	NP_001257377.1:p.Lys563Glu