Canonical Allele Identifier: CA220193

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 21016
• ClinVar RCV Id: RCV000020072 ; RCV000077903
• dbSNP Id: rs2309689
• ExAC: 17:7127184 G / A
• gnomAD v2: 17-7127184-G-A
• gnomAD v3: 17-7223865-G-A
• gnomAD v4: 17-7223865-G-A
• MyVariant Identifiers: chr17:g.7127184G>A (hg19) ; chr17:g.7223865G>A (hg38)
• PubMed: PMID:9546340 ; PMID:10077518 ; PMID:16443431 ; PMID:17999356 ; PMID:20301763 ; PMID:23891399 ; PMID:24305961 ; PMID:25834949 ; PMID:26385305 ; PMID:27246109
• ERepo: CA220193/MONDO:0008723/021

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223865G>A , CM000679.2:g.7223865G>A	GRCh38
NC_000017.10:g.7127184G>A , CM000679.1:g.7127184G>A	GRCh37
NC_000017.9:g.7067908G>A	NCBI36
NG_007975.1:g.9032G>A
NG_008391.2:g.1186C>T
NG_033038.1:g.15680C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1322G>A MANE Select	ENSP00000349297.5:p.Gly441Asp
ENST00000322910.9:c.*1277G>A	ENSP00000325395.5:n.*1277G>A
ENST00000350303.9:c.1256G>A	ENSP00000344152.5:p.Gly419Asp
ENST00000356839.9:c.1322G>A	ENSP00000349297.5:p.Gly441Asp
ENST00000542255.6:c.180G>A
ENST00000543245.6:c.1391G>A	ENSP00000438689.2:p.Gly464Asp
ENST00000578711.1:n.361G>A
ENST00000579425.5:n.346G>A
ENST00000579546.1:c.159G>A
ENST00000583074.5:n.41G>A
ENST00000583850.5:n.97G>A
ENST00000583858.5:c.351G>A
ENST00000585203.6:n.523+7G>A
NM_000018.3:c.1322G>A	NP_000009.1:p.Gly441Asp
NM_001033859.2:c.1256G>A	NP_001029031.1:p.Gly419Asp
NM_001270447.1:c.1391G>A	NP_001257376.1:p.Gly464Asp
NM_001270448.1:c.1094G>A	NP_001257377.1:p.Gly365Asp
XM_006721516.2:c.1322G>A	XP_006721579.2:p.Gly441Asp
XM_011523829.1:c.1322G>A	XP_011522131.1:p.Gly441Asp
XM_011523830.1:c.1322G>A	XP_011522132.1:p.Gly441Asp
XR_934021.1:n.1429G>A
XR_934022.1:n.1429G>A
XR_934023.1:n.1429G>A
XM_006721516.3:c.1322G>A	XP_006721579.2:p.Gly441Asp
XM_011523829.2:c.1322G>A	XP_011522131.1:p.Gly441Asp
XM_011523830.2:c.1322G>A	XP_011522132.1:p.Gly441Asp
XM_024450741.1:c.1322G>A	XP_024306509.1:p.Gly441Asp
XR_934021.2:n.1381G>A
XR_934022.2:n.1381G>A
XR_934023.2:n.1381G>A
NM_000018.4:c.1322G>A MANE Select	NP_000009.1:p.Gly441Asp
NM_001033859.3:c.1256G>A	NP_001029031.1:p.Gly419Asp
NM_001270447.2:c.1391G>A	NP_001257376.1:p.Gly464Asp
NM_001270448.2:c.1094G>A	NP_001257377.1:p.Gly365Asp