Canonical Allele Identifier: CA397723765
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 2015897
ClinVar RCV Id: RCV002843627
MyVariant Identifiers: chr17:g.7125569A>G (hg19) chr17:g.7222250A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222250A>G , CM000679.2:g.7222250A>G GRCh38
NC_000017.10:g.7125569A>G , CM000679.1:g.7125569A>G GRCh37
NC_000017.9:g.7066293A>G NCBI36
NG_007975.1:g.7417A>G
NG_008391.2:g.2801T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.826A>G MANE Select ENSP00000349297.5:p.Lys276Glu
ENST00000322910.9:c.*781A>G ENSP00000325395.5:n.*781A>G
ENST00000350303.9:c.760A>G ENSP00000344152.5:p.Lys254Glu
ENST00000356839.9:c.826A>G ENSP00000349297.5:p.Lys276Glu
ENST00000543245.6:c.895A>G ENSP00000438689.2:p.Lys299Glu
ENST00000577191.5:n.998A>G
ENST00000581378.5:c.544A>G
ENST00000582379.1:n.210A>G
NM_000018.3:c.826A>G NP_000009.1:p.Lys276Glu
NM_001033859.2:c.760A>G NP_001029031.1:p.Lys254Glu
NM_001270447.1:c.895A>G NP_001257376.1:p.Lys299Glu
NM_001270448.1:c.598A>G NP_001257377.1:p.Lys200Glu
XM_006721516.2:c.826A>G XP_006721579.2:p.Lys276Glu
XM_011523829.1:c.826A>G XP_011522131.1:p.Lys276Glu
XM_011523830.1:c.826A>G XP_011522132.1:p.Lys276Glu
XR_934021.1:n.933A>G
XR_934022.1:n.933A>G
XR_934023.1:n.933A>G
XM_006721516.3:c.826A>G XP_006721579.2:p.Lys276Glu
XM_011523829.2:c.826A>G XP_011522131.1:p.Lys276Glu
XM_011523830.2:c.826A>G XP_011522132.1:p.Lys276Glu
XM_024450741.1:c.826A>G XP_024306509.1:p.Lys276Glu
XR_934021.2:n.885A>G
XR_934022.2:n.885A>G
XR_934023.2:n.885A>G
NM_000018.4:c.826A>G MANE Select NP_000009.1:p.Lys276Glu
NM_001033859.3:c.760A>G NP_001029031.1:p.Lys254Glu
NM_001270447.2:c.895A>G NP_001257376.1:p.Lys299Glu
NM_001270448.2:c.598A>G NP_001257377.1:p.Lys200Glu
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