Canonical Allele Identifier: CA8337873
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 370981
ClinVar RCV Id: RCV000408960 RCV000489455
dbSNP Id: rs200788251
ExAC: 17:7125608 G / A
gnomAD v2: 17-7125608-G-A
gnomAD v3: 17-7222289-G-A
gnomAD v4: 17-7222289-G-A
MyVariant Identifiers: chr17:g.7125608G>A (hg19) chr17:g.7222289G>A (hg38)
ERepo: CA8337873/MONDO:0008723/021
PubMed: PMID:14517516 PMID:23480858 PMID:23798014 PMID:26385305 PMID:27209629
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222289G>A , CM000679.2:g.7222289G>A GRCh38
NC_000017.10:g.7125608G>A , CM000679.1:g.7125608G>A GRCh37
NC_000017.9:g.7066332G>A NCBI36
NG_007975.1:g.7456G>A
NG_008391.2:g.2762C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.865G>A MANE Select ENSP00000349297.5:p.Gly289Arg
ENST00000322910.9:c.*820G>A ENSP00000325395.5:n.*820G>A
ENST00000350303.9:c.799G>A ENSP00000344152.5:p.Gly267Arg
ENST00000356839.9:c.865G>A ENSP00000349297.5:p.Gly289Arg
ENST00000543245.6:c.934G>A ENSP00000438689.2:p.Gly312Arg
ENST00000577191.5:n.1037G>A
ENST00000581378.5:c.583G>A
ENST00000582379.1:n.249G>A
NM_000018.3:c.865G>A NP_000009.1:p.Gly289Arg
NM_001033859.2:c.799G>A NP_001029031.1:p.Gly267Arg
NM_001270447.1:c.934G>A NP_001257376.1:p.Gly312Arg
NM_001270448.1:c.637G>A NP_001257377.1:p.Gly213Arg
XM_006721516.2:c.865G>A XP_006721579.2:p.Gly289Arg
XM_011523829.1:c.865G>A XP_011522131.1:p.Gly289Arg
XM_011523830.1:c.865G>A XP_011522132.1:p.Gly289Arg
XR_934021.1:n.972G>A
XR_934022.1:n.972G>A
XR_934023.1:n.972G>A
XM_006721516.3:c.865G>A XP_006721579.2:p.Gly289Arg
XM_011523829.2:c.865G>A XP_011522131.1:p.Gly289Arg
XM_011523830.2:c.865G>A XP_011522132.1:p.Gly289Arg
XM_024450741.1:c.865G>A XP_024306509.1:p.Gly289Arg
XR_934021.2:n.924G>A
XR_934022.2:n.924G>A
XR_934023.2:n.924G>A
NM_000018.4:c.865G>A MANE Select NP_000009.1:p.Gly289Arg
NM_001033859.3:c.799G>A NP_001029031.1:p.Gly267Arg
NM_001270447.2:c.934G>A NP_001257376.1:p.Gly312Arg
NM_001270448.2:c.637G>A NP_001257377.1:p.Gly213Arg
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