Canonical Allele Identifier: CA397723617
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7125496T>G (hg19) chr17:g.7222177T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222177T>G , CM000679.2:g.7222177T>G GRCh38
NC_000017.10:g.7125496T>G , CM000679.1:g.7125496T>G GRCh37
NC_000017.9:g.7066220T>G NCBI36
NG_007975.1:g.7344T>G
NG_008391.2:g.2874A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.753T>G MANE Select ENSP00000349297.5:p.Ser251Arg
ENST00000322910.9:c.*708T>G ENSP00000325395.5:n.*708T>G
ENST00000350303.9:c.687T>G ENSP00000344152.5:p.Ser229Arg
ENST00000356839.9:c.753T>G ENSP00000349297.5:p.Ser251Arg
ENST00000543245.6:c.822T>G ENSP00000438689.2:p.Ser274Arg
ENST00000577191.5:n.925T>G
ENST00000581378.5:c.471T>G
ENST00000582379.1:n.137T>G
NM_000018.3:c.753T>G NP_000009.1:p.Ser251Arg
NM_001033859.2:c.687T>G NP_001029031.1:p.Ser229Arg
NM_001270447.1:c.822T>G NP_001257376.1:p.Ser274Arg
NM_001270448.1:c.525T>G NP_001257377.1:p.Ser175Arg
XM_006721516.2:c.753T>G XP_006721579.2:p.Ser251Arg
XM_011523829.1:c.753T>G XP_011522131.1:p.Ser251Arg
XM_011523830.1:c.753T>G XP_011522132.1:p.Ser251Arg
XR_934021.1:n.860T>G
XR_934022.1:n.860T>G
XR_934023.1:n.860T>G
XM_006721516.3:c.753T>G XP_006721579.2:p.Ser251Arg
XM_011523829.2:c.753T>G XP_011522131.1:p.Ser251Arg
XM_011523830.2:c.753T>G XP_011522132.1:p.Ser251Arg
XM_024450741.1:c.753T>G XP_024306509.1:p.Ser251Arg
XR_934021.2:n.812T>G
XR_934022.2:n.812T>G
XR_934023.2:n.812T>G
NM_000018.4:c.753T>G MANE Select NP_000009.1:p.Ser251Arg
NM_001033859.3:c.687T>G NP_001029031.1:p.Ser229Arg
NM_001270447.2:c.822T>G NP_001257376.1:p.Ser274Arg
NM_001270448.2:c.525T>G NP_001257377.1:p.Ser175Arg
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