Canonical Allele Identifier: CA312275

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 203585
• ClinVar RCV Id: RCV000185726 ; RCV000412089 ; RCV000414939 ; RCV002516958 ; RCV003407682
• dbSNP Id: rs751995154
• ExAC: 17:7127330 G / A
• gnomAD v2: 17-7127330-G-A
• gnomAD v3: 17-7224011-G-A
• gnomAD v4: 17-7224011-G-A
• MyVariant Identifiers: chr17:g.7127330G>A (hg19) ; chr17:g.7224011G>A (hg38)
• ERepo: CA312275/MONDO:0008723/021
• PubMed: PMID:14517516 ; PMID:19327992 ; PMID:21429517 ; PMID:23798014 ; PMID:25214167 ; PMID:26385305

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224011G>A , CM000679.2:g.7224011G>A	GRCh38
NC_000017.10:g.7127330G>A , CM000679.1:g.7127330G>A	GRCh37
NC_000017.9:g.7068054G>A	NCBI36
NG_007975.1:g.9178G>A
NG_008391.2:g.1040C>T
NG_033038.1:g.15534C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1376G>A MANE Select	ENSP00000349297.5:p.Arg459Gln
ENST00000322910.9:c.*1331G>A	ENSP00000325395.5:n.*1331G>A
ENST00000350303.9:c.1310G>A	ENSP00000344152.5:p.Arg437Gln
ENST00000356839.9:c.1376G>A	ENSP00000349297.5:p.Arg459Gln
ENST00000542255.6:c.234G>A
ENST00000543245.6:c.1445G>A	ENSP00000438689.2:p.Arg482Gln
ENST00000578711.1:n.507G>A
ENST00000579425.5:n.492G>A
ENST00000579546.1:c.213G>A
ENST00000579894.5:n.87G>A
ENST00000583074.5:n.95G>A
ENST00000583850.5:n.151G>A
ENST00000583858.5:c.405G>A
ENST00000585203.6:n.567G>A
NM_000018.3:c.1376G>A	NP_000009.1:p.Arg459Gln
NM_001033859.2:c.1310G>A	NP_001029031.1:p.Arg437Gln
NM_001270447.1:c.1445G>A	NP_001257376.1:p.Arg482Gln
NM_001270448.1:c.1148G>A	NP_001257377.1:p.Arg383Gln
XM_006721516.2:c.1376G>A	XP_006721579.2:p.Arg459Gln
XM_011523829.1:c.1376G>A	XP_011522131.1:p.Arg459Gln
XM_011523830.1:c.1376G>A	XP_011522132.1:p.Arg459Gln
XR_934021.1:n.1483G>A
XR_934022.1:n.1483G>A
XR_934023.1:n.1483G>A
XM_006721516.3:c.1376G>A	XP_006721579.2:p.Arg459Gln
XM_011523829.2:c.1376G>A	XP_011522131.1:p.Arg459Gln
XM_011523830.2:c.1376G>A	XP_011522132.1:p.Arg459Gln
XM_024450741.1:c.1376G>A	XP_024306509.1:p.Arg459Gln
XR_934021.2:n.1435G>A
XR_934022.2:n.1435G>A
XR_934023.2:n.1435G>A
NM_000018.4:c.1376G>A MANE Select	NP_000009.1:p.Arg459Gln
NM_001033859.3:c.1310G>A	NP_001029031.1:p.Arg437Gln
NM_001270447.2:c.1445G>A	NP_001257376.1:p.Arg482Gln
NM_001270448.2:c.1148G>A	NP_001257377.1:p.Arg383Gln