Canonical Allele Identifier: CA497693997
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7125296A>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221977A>T , CM000679.2:g.7221977A>T GRCh38
NC_000017.10:g.7125296A>T , CM000679.1:g.7125296A>T GRCh37
NC_000017.9:g.7066020A>T NCBI36
NG_007975.1:g.7144A>T
NG_008391.2:g.3074T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.648A>T MANE Select ENSP00000349297.5:p.Leu216=
ENST00000322910.9:c.*603A>T ENSP00000325395.5:n.*603A>T
ENST00000350303.9:c.582A>T ENSP00000344152.5:p.Leu194=
ENST00000356839.9:c.648A>T ENSP00000349297.5:p.Leu216=
ENST00000543245.6:c.717A>T ENSP00000438689.2:p.Leu239=
ENST00000577191.5:n.725A>T
ENST00000577857.5:n.464A>T
ENST00000579286.5:n.829A>T
ENST00000580365.1:n.379A>T
ENST00000581378.5:c.366A>T
ENST00000581562.5:n.550A>T
ENST00000582379.1:n.32A>T
ENST00000583312.5:c.663A>T ENSP00000467920.1:p.Leu221=
ENST00000583760.1:n.430A>T
NM_000018.3:c.648A>T NP_000009.1:p.Leu216=
NM_001033859.2:c.582A>T NP_001029031.1:p.Leu194=
NM_001270447.1:c.717A>T NP_001257376.1:p.Leu239=
NM_001270448.1:c.420A>T NP_001257377.1:p.Leu140=
XM_006721516.2:c.648A>T XP_006721579.2:p.Leu216=
XM_011523829.1:c.648A>T XP_011522131.1:p.Leu216=
XM_011523830.1:c.648A>T XP_011522132.1:p.Leu216=
XR_934021.1:n.755A>T
XR_934022.1:n.755A>T
XR_934023.1:n.755A>T
XM_006721516.3:c.648A>T XP_006721579.2:p.Leu216=
XM_011523829.2:c.648A>T XP_011522131.1:p.Leu216=
XM_011523830.2:c.648A>T XP_011522132.1:p.Leu216=
XM_024450741.1:c.648A>T XP_024306509.1:p.Leu216=
XR_934021.2:n.707A>T
XR_934022.2:n.707A>T
XR_934023.2:n.707A>T
NM_000018.4:c.648A>T MANE Select NP_000009.1:p.Leu216=
NM_001033859.3:c.582A>T NP_001029031.1:p.Leu194=
NM_001270447.2:c.717A>T NP_001257376.1:p.Leu239=
NM_001270448.2:c.420A>T NP_001257377.1:p.Leu140=
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