Canonical Allele Identifier: CA397723521
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7125363A>T (hg19) chr17:g.7222044A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222044A>T , CM000679.2:g.7222044A>T GRCh38
NC_000017.10:g.7125363A>T , CM000679.1:g.7125363A>T GRCh37
NC_000017.9:g.7066087A>T NCBI36
NG_007975.1:g.7211A>T
NG_008391.2:g.3007T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.715A>T MANE Select ENSP00000349297.5:p.Lys239Ter
ENST00000322910.9:c.*670A>T ENSP00000325395.5:n.*670A>T
ENST00000350303.9:c.649A>T ENSP00000344152.5:p.Lys217Ter
ENST00000356839.9:c.715A>T ENSP00000349297.5:p.Lys239Ter
ENST00000543245.6:c.784A>T ENSP00000438689.2:p.Lys262Ter
ENST00000577191.5:n.792A>T
ENST00000577857.5:n.531A>T
ENST00000579286.5:n.896A>T
ENST00000580365.1:n.446A>T
ENST00000581378.5:c.433A>T
ENST00000582379.1:n.99A>T
ENST00000583760.1:n.497A>T
NM_000018.3:c.715A>T NP_000009.1:p.Lys239Ter
NM_001033859.2:c.649A>T NP_001029031.1:p.Lys217Ter
NM_001270447.1:c.784A>T NP_001257376.1:p.Lys262Ter
NM_001270448.1:c.487A>T NP_001257377.1:p.Lys163Ter
XM_006721516.2:c.715A>T XP_006721579.2:p.Lys239Ter
XM_011523829.1:c.715A>T XP_011522131.1:p.Lys239Ter
XM_011523830.1:c.715A>T XP_011522132.1:p.Lys239Ter
XR_934021.1:n.822A>T
XR_934022.1:n.822A>T
XR_934023.1:n.822A>T
XM_006721516.3:c.715A>T XP_006721579.2:p.Lys239Ter
XM_011523829.2:c.715A>T XP_011522131.1:p.Lys239Ter
XM_011523830.2:c.715A>T XP_011522132.1:p.Lys239Ter
XM_024450741.1:c.715A>T XP_024306509.1:p.Lys239Ter
XR_934021.2:n.774A>T
XR_934022.2:n.774A>T
XR_934023.2:n.774A>T
NM_000018.4:c.715A>T MANE Select NP_000009.1:p.Lys239Ter
NM_001033859.3:c.649A>T NP_001029031.1:p.Lys217Ter
NM_001270447.2:c.784A>T NP_001257376.1:p.Lys262Ter
NM_001270448.2:c.487A>T NP_001257377.1:p.Lys163Ter
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