Canonical Allele Identifier: CA397723600
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7222079-C-G
MyVariant Identifiers: chr17:g.7125398C>G (hg19) chr17:g.7222079C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222079C>G , CM000679.2:g.7222079C>G GRCh38
NC_000017.10:g.7125398C>G , CM000679.1:g.7125398C>G GRCh37
NC_000017.9:g.7066122C>G NCBI36
NG_007975.1:g.7246C>G
NG_008391.2:g.2972G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.750C>G MANE Select ENSP00000349297.5:p.Ile250Met
ENST00000322910.9:c.*705C>G ENSP00000325395.5:n.*705C>G
ENST00000350303.9:c.684C>G ENSP00000344152.5:p.Ile228Met
ENST00000356839.9:c.750C>G ENSP00000349297.5:p.Ile250Met
ENST00000543245.6:c.819C>G ENSP00000438689.2:p.Ile273Met
ENST00000577191.5:n.827C>G
ENST00000577857.5:n.566C>G
ENST00000579286.5:n.931C>G
ENST00000580365.1:n.481C>G
ENST00000581378.5:c.468C>G
ENST00000582379.1:n.134C>G
ENST00000583760.1:n.532C>G
NM_000018.3:c.750C>G NP_000009.1:p.Ile250Met
NM_001033859.2:c.684C>G NP_001029031.1:p.Ile228Met
NM_001270447.1:c.819C>G NP_001257376.1:p.Ile273Met
NM_001270448.1:c.522C>G NP_001257377.1:p.Ile174Met
XM_006721516.2:c.750C>G XP_006721579.2:p.Ile250Met
XM_011523829.1:c.750C>G XP_011522131.1:p.Ile250Met
XM_011523830.1:c.750C>G XP_011522132.1:p.Ile250Met
XR_934021.1:n.857C>G
XR_934022.1:n.857C>G
XR_934023.1:n.857C>G
XM_006721516.3:c.750C>G XP_006721579.2:p.Ile250Met
XM_011523829.2:c.750C>G XP_011522131.1:p.Ile250Met
XM_011523830.2:c.750C>G XP_011522132.1:p.Ile250Met
XM_024450741.1:c.750C>G XP_024306509.1:p.Ile250Met
XR_934021.2:n.809C>G
XR_934022.2:n.809C>G
XR_934023.2:n.809C>G
NM_000018.4:c.750C>G MANE Select NP_000009.1:p.Ile250Met
NM_001033859.3:c.684C>G NP_001029031.1:p.Ile228Met
NM_001270447.2:c.819C>G NP_001257376.1:p.Ile273Met
NM_001270448.2:c.522C>G NP_001257377.1:p.Ile174Met
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