Canonical Allele Identifier: CA312265

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 203580
• ClinVar RCV Id: RCV000185720 ; RCV000411732
• dbSNP Id: rs112406105
• ExAC: 17:7126471 G / A
• gnomAD v2: 17-7126471-G-A
• gnomAD v3: 17-7223152-G-A
• gnomAD v4: 17-7223152-G-A
• MyVariant Identifiers: chr17:g.7126471G>A (hg19) ; chr17:g.7223152G>A (hg38)
• PubMed: PMID:26385305
• ERepo: CA312265/MONDO:0008723/021

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223152G>A , CM000679.2:g.7223152G>A	GRCh38
NC_000017.10:g.7126471G>A , CM000679.1:g.7126471G>A	GRCh37
NC_000017.9:g.7067195G>A	NCBI36
NG_007975.1:g.8319G>A
NG_008391.2:g.1899C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1097G>A MANE Select	ENSP00000349297.5:p.Arg366His
ENST00000322910.9:c.*1052G>A	ENSP00000325395.5:n.*1052G>A
ENST00000350303.9:c.1031G>A	ENSP00000344152.5:p.Arg344His
ENST00000356839.9:c.1097G>A	ENSP00000349297.5:p.Arg366His
ENST00000543245.6:c.1166G>A	ENSP00000438689.2:p.Arg389His
ENST00000578579.2:n.46G>A
ENST00000578824.5:n.513G>A
ENST00000579425.5:n.121G>A
ENST00000582379.1:n.748G>A
ENST00000583858.5:c.126G>A
ENST00000585203.6:n.305G>A
NM_000018.3:c.1097G>A	NP_000009.1:p.Arg366His
NM_001033859.2:c.1031G>A	NP_001029031.1:p.Arg344His
NM_001270447.1:c.1166G>A	NP_001257376.1:p.Arg389His
NM_001270448.1:c.869G>A	NP_001257377.1:p.Arg290His
XM_006721516.2:c.1097G>A	XP_006721579.2:p.Arg366His
XM_011523829.1:c.1097G>A	XP_011522131.1:p.Arg366His
XM_011523830.1:c.1097G>A	XP_011522132.1:p.Arg366His
XR_934021.1:n.1204G>A
XR_934022.1:n.1204G>A
XR_934023.1:n.1204G>A
XM_006721516.3:c.1097G>A	XP_006721579.2:p.Arg366His
XM_011523829.2:c.1097G>A	XP_011522131.1:p.Arg366His
XM_011523830.2:c.1097G>A	XP_011522132.1:p.Arg366His
XM_024450741.1:c.1097G>A	XP_024306509.1:p.Arg366His
XR_934021.2:n.1156G>A
XR_934022.2:n.1156G>A
XR_934023.2:n.1156G>A
NM_000018.4:c.1097G>A MANE Select	NP_000009.1:p.Arg366His
NM_001033859.3:c.1031G>A	NP_001029031.1:p.Arg344His
NM_001270447.2:c.1166G>A	NP_001257376.1:p.Arg389His
NM_001270448.2:c.869G>A	NP_001257377.1:p.Arg290His