Canonical Allele Identifier: CA397723783
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7222257-A-G
MyVariant Identifiers: chr17:g.7125576A>G (hg19) chr17:g.7222257A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222257A>G , CM000679.2:g.7222257A>G GRCh38
NC_000017.10:g.7125576A>G , CM000679.1:g.7125576A>G GRCh37
NC_000017.9:g.7066300A>G NCBI36
NG_007975.1:g.7424A>G
NG_008391.2:g.2794T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.833A>G MANE Select ENSP00000349297.5:p.Lys278Arg
ENST00000322910.9:c.*788A>G ENSP00000325395.5:n.*788A>G
ENST00000350303.9:c.767A>G ENSP00000344152.5:p.Lys256Arg
ENST00000356839.9:c.833A>G ENSP00000349297.5:p.Lys278Arg
ENST00000543245.6:c.902A>G ENSP00000438689.2:p.Lys301Arg
ENST00000577191.5:n.1005A>G
ENST00000581378.5:c.551A>G
ENST00000582379.1:n.217A>G
NM_000018.3:c.833A>G NP_000009.1:p.Lys278Arg
NM_001033859.2:c.767A>G NP_001029031.1:p.Lys256Arg
NM_001270447.1:c.902A>G NP_001257376.1:p.Lys301Arg
NM_001270448.1:c.605A>G NP_001257377.1:p.Lys202Arg
XM_006721516.2:c.833A>G XP_006721579.2:p.Lys278Arg
XM_011523829.1:c.833A>G XP_011522131.1:p.Lys278Arg
XM_011523830.1:c.833A>G XP_011522132.1:p.Lys278Arg
XR_934021.1:n.940A>G
XR_934022.1:n.940A>G
XR_934023.1:n.940A>G
XM_006721516.3:c.833A>G XP_006721579.2:p.Lys278Arg
XM_011523829.2:c.833A>G XP_011522131.1:p.Lys278Arg
XM_011523830.2:c.833A>G XP_011522132.1:p.Lys278Arg
XM_024450741.1:c.833A>G XP_024306509.1:p.Lys278Arg
XR_934021.2:n.892A>G
XR_934022.2:n.892A>G
XR_934023.2:n.892A>G
NM_000018.4:c.833A>G MANE Select NP_000009.1:p.Lys278Arg
NM_001033859.3:c.767A>G NP_001029031.1:p.Lys256Arg
NM_001270447.2:c.902A>G NP_001257376.1:p.Lys301Arg
NM_001270448.2:c.605A>G NP_001257377.1:p.Lys202Arg
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