Canonical Allele Identifier: CA397723685
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7125528T>G (hg19) chr17:g.7222209T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222209T>G , CM000679.2:g.7222209T>G GRCh38
NC_000017.10:g.7125528T>G , CM000679.1:g.7125528T>G GRCh37
NC_000017.9:g.7066252T>G NCBI36
NG_007975.1:g.7376T>G
NG_008391.2:g.2842A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.785T>G MANE Select ENSP00000349297.5:p.Phe262Cys
ENST00000322910.9:c.*740T>G ENSP00000325395.5:n.*740T>G
ENST00000350303.9:c.719T>G ENSP00000344152.5:p.Phe240Cys
ENST00000356839.9:c.785T>G ENSP00000349297.5:p.Phe262Cys
ENST00000543245.6:c.854T>G ENSP00000438689.2:p.Phe285Cys
ENST00000577191.5:n.957T>G
ENST00000581378.5:c.503T>G
ENST00000582379.1:n.169T>G
NM_000018.3:c.785T>G NP_000009.1:p.Phe262Cys
NM_001033859.2:c.719T>G NP_001029031.1:p.Phe240Cys
NM_001270447.1:c.854T>G NP_001257376.1:p.Phe285Cys
NM_001270448.1:c.557T>G NP_001257377.1:p.Phe186Cys
XM_006721516.2:c.785T>G XP_006721579.2:p.Phe262Cys
XM_011523829.1:c.785T>G XP_011522131.1:p.Phe262Cys
XM_011523830.1:c.785T>G XP_011522132.1:p.Phe262Cys
XR_934021.1:n.892T>G
XR_934022.1:n.892T>G
XR_934023.1:n.892T>G
XM_006721516.3:c.785T>G XP_006721579.2:p.Phe262Cys
XM_011523829.2:c.785T>G XP_011522131.1:p.Phe262Cys
XM_011523830.2:c.785T>G XP_011522132.1:p.Phe262Cys
XM_024450741.1:c.785T>G XP_024306509.1:p.Phe262Cys
XR_934021.2:n.844T>G
XR_934022.2:n.844T>G
XR_934023.2:n.844T>G
NM_000018.4:c.785T>G MANE Select NP_000009.1:p.Phe262Cys
NM_001033859.3:c.719T>G NP_001029031.1:p.Phe240Cys
NM_001270447.2:c.854T>G NP_001257376.1:p.Phe285Cys
NM_001270448.2:c.557T>G NP_001257377.1:p.Phe186Cys
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