Canonical Allele Identifier: CA497694059
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7125398C>T (hg19)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.750C>T MANE Select ENSP00000349297.5:p.Ile250=
ENST00000322910.9:c.*705C>T ENSP00000325395.5:n.*705C>T
ENST00000350303.9:c.684C>T ENSP00000344152.5:p.Ile228=
ENST00000356839.9:c.750C>T ENSP00000349297.5:p.Ile250=
ENST00000543245.6:c.819C>T ENSP00000438689.2:p.Ile273=
ENST00000577191.5:n.827C>T
ENST00000577857.5:n.566C>T
ENST00000579286.5:n.931C>T
ENST00000580365.1:n.481C>T
ENST00000581378.5:c.468C>T
ENST00000582379.1:n.134C>T
ENST00000583760.1:n.532C>T
NM_000018.3:c.750C>T NP_000009.1:p.Ile250=
NM_001033859.2:c.684C>T NP_001029031.1:p.Ile228=
NM_001270447.1:c.819C>T NP_001257376.1:p.Ile273=
NM_001270448.1:c.522C>T NP_001257377.1:p.Ile174=
XM_006721516.2:c.750C>T XP_006721579.2:p.Ile250=
XM_011523829.1:c.750C>T XP_011522131.1:p.Ile250=
XM_011523830.1:c.750C>T XP_011522132.1:p.Ile250=
XR_934021.1:n.857C>T
XR_934022.1:n.857C>T
XR_934023.1:n.857C>T
XM_006721516.3:c.750C>T XP_006721579.2:p.Ile250=
XM_011523829.2:c.750C>T XP_011522131.1:p.Ile250=
XM_011523830.2:c.750C>T XP_011522132.1:p.Ile250=
XM_024450741.1:c.750C>T XP_024306509.1:p.Ile250=
XR_934021.2:n.809C>T
XR_934022.2:n.809C>T
XR_934023.2:n.809C>T
NM_000018.4:c.750C>T MANE Select NP_000009.1:p.Ile250=
NM_001033859.3:c.684C>T NP_001029031.1:p.Ile228=
NM_001270447.2:c.819C>T NP_001257376.1:p.Ile273=
NM_001270448.2:c.522C>T NP_001257377.1:p.Ile174=
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