Canonical Allele Identifier: CA397723827
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 1995959
ClinVar RCV Id: RCV002801691
MyVariant Identifiers: chr17:g.7125597A>T (hg19) chr17:g.7222278A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222278A>T , CM000679.2:g.7222278A>T GRCh38
NC_000017.10:g.7125597A>T , CM000679.1:g.7125597A>T GRCh37
NC_000017.9:g.7066321A>T NCBI36
NG_007975.1:g.7445A>T
NG_008391.2:g.2773T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.854A>T MANE Select ENSP00000349297.5:p.Glu285Val
ENST00000322910.9:c.*809A>T ENSP00000325395.5:n.*809A>T
ENST00000350303.9:c.788A>T ENSP00000344152.5:p.Glu263Val
ENST00000356839.9:c.854A>T ENSP00000349297.5:p.Glu285Val
ENST00000543245.6:c.923A>T ENSP00000438689.2:p.Glu308Val
ENST00000577191.5:n.1026A>T
ENST00000581378.5:c.572A>T
ENST00000582379.1:n.238A>T
NM_000018.3:c.854A>T NP_000009.1:p.Glu285Val
NM_001033859.2:c.788A>T NP_001029031.1:p.Glu263Val
NM_001270447.1:c.923A>T NP_001257376.1:p.Glu308Val
NM_001270448.1:c.626A>T NP_001257377.1:p.Glu209Val
XM_006721516.2:c.854A>T XP_006721579.2:p.Glu285Val
XM_011523829.1:c.854A>T XP_011522131.1:p.Glu285Val
XM_011523830.1:c.854A>T XP_011522132.1:p.Glu285Val
XR_934021.1:n.961A>T
XR_934022.1:n.961A>T
XR_934023.1:n.961A>T
XM_006721516.3:c.854A>T XP_006721579.2:p.Glu285Val
XM_011523829.2:c.854A>T XP_011522131.1:p.Glu285Val
XM_011523830.2:c.854A>T XP_011522132.1:p.Glu285Val
XM_024450741.1:c.854A>T XP_024306509.1:p.Glu285Val
XR_934021.2:n.913A>T
XR_934022.2:n.913A>T
XR_934023.2:n.913A>T
NM_000018.4:c.854A>T MANE Select NP_000009.1:p.Glu285Val
NM_001033859.3:c.788A>T NP_001029031.1:p.Glu263Val
NM_001270447.2:c.923A>T NP_001257376.1:p.Glu308Val
NM_001270448.2:c.626A>T NP_001257377.1:p.Glu209Val
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