Canonical Allele Identifier: CA220218

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 92289
• ClinVar RCV Id: RCV000077922 ; RCV000169301
• dbSNP Id: rs398123091
• gnomAD v2: 17-7125312-G-A
• gnomAD v3: 17-7221993-G-A
• gnomAD v4: 17-7221993-G-A
• MyVariant Identifiers: chr17:g.7125312G>A (hg19) ; chr17:g.7221993G>A (hg38)
• PubMed: PMID:16443431 ; PMID:20060901 ; PMID:21378393 ; PMID:24801231 ; PMID:24898617
• ERepo: CA220218/MONDO:0008723/021

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221993G>A , CM000679.2:g.7221993G>A	GRCh38
NC_000017.10:g.7125312G>A , CM000679.1:g.7125312G>A	GRCh37
NC_000017.9:g.7066036G>A	NCBI36
NG_007975.1:g.7160G>A
NG_008391.2:g.3058C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.664G>A MANE Select	ENSP00000349297.5:p.Gly222Arg
ENST00000322910.9:c.*619G>A	ENSP00000325395.5:n.*619G>A
ENST00000350303.9:c.598G>A	ENSP00000344152.5:p.Gly200Arg
ENST00000356839.9:c.664G>A	ENSP00000349297.5:p.Gly222Arg
ENST00000543245.6:c.733G>A	ENSP00000438689.2:p.Gly245Arg
ENST00000577191.5:n.741G>A
ENST00000577857.5:n.480G>A
ENST00000579286.5:n.845G>A
ENST00000580365.1:n.395G>A
ENST00000581378.5:c.382G>A
ENST00000581562.5:n.566G>A
ENST00000582379.1:n.48G>A
ENST00000583760.1:n.446G>A
NM_000018.3:c.664G>A	NP_000009.1:p.Gly222Arg
NM_001033859.2:c.598G>A	NP_001029031.1:p.Gly200Arg
NM_001270447.1:c.733G>A	NP_001257376.1:p.Gly245Arg
NM_001270448.1:c.436G>A	NP_001257377.1:p.Gly146Arg
XM_006721516.2:c.664G>A	XP_006721579.2:p.Gly222Arg
XM_011523829.1:c.664G>A	XP_011522131.1:p.Gly222Arg
XM_011523830.1:c.664G>A	XP_011522132.1:p.Gly222Arg
XR_934021.1:n.771G>A
XR_934022.1:n.771G>A
XR_934023.1:n.771G>A
XM_006721516.3:c.664G>A	XP_006721579.2:p.Gly222Arg
XM_011523829.2:c.664G>A	XP_011522131.1:p.Gly222Arg
XM_011523830.2:c.664G>A	XP_011522132.1:p.Gly222Arg
XM_024450741.1:c.664G>A	XP_024306509.1:p.Gly222Arg
XR_934021.2:n.723G>A
XR_934022.2:n.723G>A
XR_934023.2:n.723G>A
NM_000018.4:c.664G>A MANE Select	NP_000009.1:p.Gly222Arg
NM_001033859.3:c.598G>A	NP_001029031.1:p.Gly200Arg
NM_001270447.2:c.733G>A	NP_001257376.1:p.Gly245Arg
NM_001270448.2:c.436G>A	NP_001257377.1:p.Gly146Arg