Canonical Allele Identifier: CA397724119

Gene: ACADVL

Linked Data

• dbSNP Id: rs727503792
• gnomAD v2: 17-7126099-A-G
• gnomAD v4: 17-7222780-A-G
• MyVariant Identifiers: chr17:g.7126099A>G (hg19) ; chr17:g.7222780A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222780A>G , CM000679.2:g.7222780A>G	GRCh38
NC_000017.10:g.7126099A>G , CM000679.1:g.7126099A>G	GRCh37
NC_000017.9:g.7066823A>G	NCBI36
NG_007975.1:g.7947A>G
NG_008391.2:g.2271T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.992A>G MANE Select	ENSP00000349297.5:p.Lys331Arg
ENST00000322910.9:c.*947A>G	ENSP00000325395.5:n.*947A>G
ENST00000350303.9:c.926A>G	ENSP00000344152.5:p.Lys309Arg
ENST00000356839.9:c.992A>G	ENSP00000349297.5:p.Lys331Arg
ENST00000543245.6:c.1061A>G	ENSP00000438689.2:p.Lys354Arg
ENST00000578824.5:n.141A>G
ENST00000581378.5:c.710A>G
ENST00000582379.1:n.376A>G
ENST00000583858.5:c.21A>G
NM_000018.3:c.992A>G	NP_000009.1:p.Lys331Arg
NM_001033859.2:c.926A>G	NP_001029031.1:p.Lys309Arg
NM_001270447.1:c.1061A>G	NP_001257376.1:p.Lys354Arg
NM_001270448.1:c.764A>G	NP_001257377.1:p.Lys255Arg
XM_006721516.2:c.992A>G	XP_006721579.2:p.Lys331Arg
XM_011523829.1:c.992A>G	XP_011522131.1:p.Lys331Arg
XM_011523830.1:c.992A>G	XP_011522132.1:p.Lys331Arg
XR_934021.1:n.1099A>G
XR_934022.1:n.1099A>G
XR_934023.1:n.1099A>G
XM_006721516.3:c.992A>G	XP_006721579.2:p.Lys331Arg
XM_011523829.2:c.992A>G	XP_011522131.1:p.Lys331Arg
XM_011523830.2:c.992A>G	XP_011522132.1:p.Lys331Arg
XM_024450741.1:c.992A>G	XP_024306509.1:p.Lys331Arg
XR_934021.2:n.1051A>G
XR_934022.2:n.1051A>G
XR_934023.2:n.1051A>G
NM_000018.4:c.992A>G MANE Select	NP_000009.1:p.Lys331Arg
NM_001033859.3:c.926A>G	NP_001029031.1:p.Lys309Arg
NM_001270447.2:c.1061A>G	NP_001257376.1:p.Lys354Arg
NM_001270448.2:c.764A>G	NP_001257377.1:p.Lys255Arg