Canonical Allele Identifier: CA497694048
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7222058-C-A
MyVariant Identifiers: chr17:g.7125377C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222058C>A , CM000679.2:g.7222058C>A GRCh38
NC_000017.10:g.7125377C>A , CM000679.1:g.7125377C>A GRCh37
NC_000017.9:g.7066101C>A NCBI36
NG_007975.1:g.7225C>A
NG_008391.2:g.2993G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.729C>A MANE Select ENSP00000349297.5:p.Leu243=
ENST00000322910.9:c.*684C>A ENSP00000325395.5:n.*684C>A
ENST00000350303.9:c.663C>A ENSP00000344152.5:p.Leu221=
ENST00000356839.9:c.729C>A ENSP00000349297.5:p.Leu243=
ENST00000543245.6:c.798C>A ENSP00000438689.2:p.Leu266=
ENST00000577191.5:n.806C>A
ENST00000577857.5:n.545C>A
ENST00000579286.5:n.910C>A
ENST00000580365.1:n.460C>A
ENST00000581378.5:c.447C>A
ENST00000582379.1:n.113C>A
ENST00000583760.1:n.511C>A
NM_000018.3:c.729C>A NP_000009.1:p.Leu243=
NM_001033859.2:c.663C>A NP_001029031.1:p.Leu221=
NM_001270447.1:c.798C>A NP_001257376.1:p.Leu266=
NM_001270448.1:c.501C>A NP_001257377.1:p.Leu167=
XM_006721516.2:c.729C>A XP_006721579.2:p.Leu243=
XM_011523829.1:c.729C>A XP_011522131.1:p.Leu243=
XM_011523830.1:c.729C>A XP_011522132.1:p.Leu243=
XR_934021.1:n.836C>A
XR_934022.1:n.836C>A
XR_934023.1:n.836C>A
XM_006721516.3:c.729C>A XP_006721579.2:p.Leu243=
XM_011523829.2:c.729C>A XP_011522131.1:p.Leu243=
XM_011523830.2:c.729C>A XP_011522132.1:p.Leu243=
XM_024450741.1:c.729C>A XP_024306509.1:p.Leu243=
XR_934021.2:n.788C>A
XR_934022.2:n.788C>A
XR_934023.2:n.788C>A
NM_000018.4:c.729C>A MANE Select NP_000009.1:p.Leu243=
NM_001033859.3:c.663C>A NP_001029031.1:p.Leu221=
NM_001270447.2:c.798C>A NP_001257376.1:p.Leu266=
NM_001270448.2:c.501C>A NP_001257377.1:p.Leu167=
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