Canonical Allele Identifier: CA397723698
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7222215-A-G
MyVariant Identifiers: chr17:g.7125534A>G (hg19) chr17:g.7222215A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222215A>G , CM000679.2:g.7222215A>G GRCh38
NC_000017.10:g.7125534A>G , CM000679.1:g.7125534A>G GRCh37
NC_000017.9:g.7066258A>G NCBI36
NG_007975.1:g.7382A>G
NG_008391.2:g.2836T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.791A>G MANE Select ENSP00000349297.5:p.Lys264Arg
ENST00000322910.9:c.*746A>G ENSP00000325395.5:n.*746A>G
ENST00000350303.9:c.725A>G ENSP00000344152.5:p.Lys242Arg
ENST00000356839.9:c.791A>G ENSP00000349297.5:p.Lys264Arg
ENST00000543245.6:c.860A>G ENSP00000438689.2:p.Lys287Arg
ENST00000577191.5:n.963A>G
ENST00000581378.5:c.509A>G
ENST00000582379.1:n.175A>G
NM_000018.3:c.791A>G NP_000009.1:p.Lys264Arg
NM_001033859.2:c.725A>G NP_001029031.1:p.Lys242Arg
NM_001270447.1:c.860A>G NP_001257376.1:p.Lys287Arg
NM_001270448.1:c.563A>G NP_001257377.1:p.Lys188Arg
XM_006721516.2:c.791A>G XP_006721579.2:p.Lys264Arg
XM_011523829.1:c.791A>G XP_011522131.1:p.Lys264Arg
XM_011523830.1:c.791A>G XP_011522132.1:p.Lys264Arg
XR_934021.1:n.898A>G
XR_934022.1:n.898A>G
XR_934023.1:n.898A>G
XM_006721516.3:c.791A>G XP_006721579.2:p.Lys264Arg
XM_011523829.2:c.791A>G XP_011522131.1:p.Lys264Arg
XM_011523830.2:c.791A>G XP_011522132.1:p.Lys264Arg
XM_024450741.1:c.791A>G XP_024306509.1:p.Lys264Arg
XR_934021.2:n.850A>G
XR_934022.2:n.850A>G
XR_934023.2:n.850A>G
NM_000018.4:c.791A>G MANE Select NP_000009.1:p.Lys264Arg
NM_001033859.3:c.725A>G NP_001029031.1:p.Lys242Arg
NM_001270447.2:c.860A>G NP_001257376.1:p.Lys287Arg
NM_001270448.2:c.563A>G NP_001257377.1:p.Lys188Arg
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