Canonical Allele Identifier: CA397723863
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7125616T>G (hg19) chr17:g.7222297T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222297T>G , CM000679.2:g.7222297T>G GRCh38
NC_000017.10:g.7125616T>G , CM000679.1:g.7125616T>G GRCh37
NC_000017.9:g.7066340T>G NCBI36
NG_007975.1:g.7464T>G
NG_008391.2:g.2754A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.873T>G MANE Select ENSP00000349297.5:p.Ile291Met
ENST00000322910.9:c.*828T>G ENSP00000325395.5:n.*828T>G
ENST00000350303.9:c.807T>G ENSP00000344152.5:p.Ile269Met
ENST00000356839.9:c.873T>G ENSP00000349297.5:p.Ile291Met
ENST00000543245.6:c.942T>G ENSP00000438689.2:p.Ile314Met
ENST00000577191.5:n.1045T>G
ENST00000581378.5:c.591T>G
ENST00000582379.1:n.257T>G
NM_000018.3:c.873T>G NP_000009.1:p.Ile291Met
NM_001033859.2:c.807T>G NP_001029031.1:p.Ile269Met
NM_001270447.1:c.942T>G NP_001257376.1:p.Ile314Met
NM_001270448.1:c.645T>G NP_001257377.1:p.Ile215Met
XM_006721516.2:c.873T>G XP_006721579.2:p.Ile291Met
XM_011523829.1:c.873T>G XP_011522131.1:p.Ile291Met
XM_011523830.1:c.873T>G XP_011522132.1:p.Ile291Met
XR_934021.1:n.980T>G
XR_934022.1:n.980T>G
XR_934023.1:n.980T>G
XM_006721516.3:c.873T>G XP_006721579.2:p.Ile291Met
XM_011523829.2:c.873T>G XP_011522131.1:p.Ile291Met
XM_011523830.2:c.873T>G XP_011522132.1:p.Ile291Met
XM_024450741.1:c.873T>G XP_024306509.1:p.Ile291Met
XR_934021.2:n.932T>G
XR_934022.2:n.932T>G
XR_934023.2:n.932T>G
NM_000018.4:c.873T>G MANE Select NP_000009.1:p.Ile291Met
NM_001033859.3:c.807T>G NP_001029031.1:p.Ile269Met
NM_001270447.2:c.942T>G NP_001257376.1:p.Ile314Met
NM_001270448.2:c.645T>G NP_001257377.1:p.Ile215Met
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