Canonical Allele Identifier: CA397723490
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7125349C>G (hg19) chr17:g.7222030C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222030C>G , CM000679.2:g.7222030C>G GRCh38
NC_000017.10:g.7125349C>G , CM000679.1:g.7125349C>G GRCh37
NC_000017.9:g.7066073C>G NCBI36
NG_007975.1:g.7197C>G
NG_008391.2:g.3021G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.701C>G MANE Select ENSP00000349297.5:p.Pro234Arg
ENST00000322910.9:c.*656C>G ENSP00000325395.5:n.*656C>G
ENST00000350303.9:c.635C>G ENSP00000344152.5:p.Pro212Arg
ENST00000356839.9:c.701C>G ENSP00000349297.5:p.Pro234Arg
ENST00000543245.6:c.770C>G ENSP00000438689.2:p.Pro257Arg
ENST00000577191.5:n.778C>G
ENST00000577857.5:n.517C>G
ENST00000579286.5:n.882C>G
ENST00000580365.1:n.432C>G
ENST00000581378.5:c.419C>G
ENST00000582379.1:n.85C>G
ENST00000583760.1:n.483C>G
NM_000018.3:c.701C>G NP_000009.1:p.Pro234Arg
NM_001033859.2:c.635C>G NP_001029031.1:p.Pro212Arg
NM_001270447.1:c.770C>G NP_001257376.1:p.Pro257Arg
NM_001270448.1:c.473C>G NP_001257377.1:p.Pro158Arg
XM_006721516.2:c.701C>G XP_006721579.2:p.Pro234Arg
XM_011523829.1:c.701C>G XP_011522131.1:p.Pro234Arg
XM_011523830.1:c.701C>G XP_011522132.1:p.Pro234Arg
XR_934021.1:n.808C>G
XR_934022.1:n.808C>G
XR_934023.1:n.808C>G
XM_006721516.3:c.701C>G XP_006721579.2:p.Pro234Arg
XM_011523829.2:c.701C>G XP_011522131.1:p.Pro234Arg
XM_011523830.2:c.701C>G XP_011522132.1:p.Pro234Arg
XM_024450741.1:c.701C>G XP_024306509.1:p.Pro234Arg
XR_934021.2:n.760C>G
XR_934022.2:n.760C>G
XR_934023.2:n.760C>G
NM_000018.4:c.701C>G MANE Select NP_000009.1:p.Pro234Arg
NM_001033859.3:c.635C>G NP_001029031.1:p.Pro212Arg
NM_001270447.2:c.770C>G NP_001257376.1:p.Pro257Arg
NM_001270448.2:c.473C>G NP_001257377.1:p.Pro158Arg
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