Canonical Allele Identifier: CA287440884
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs935176246
gnomAD v4: 17-7224680-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224680A>G , CM000679.2:g.7224680A>G GRCh38
NC_000017.10:g.7127999A>G , CM000679.1:g.7127999A>G GRCh37
NC_000017.9:g.7068723A>G NCBI36
NG_007975.1:g.9847A>G
NG_008391.2:g.371T>C
NG_033038.1:g.14865T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1717A>G MANE Select ENSP00000349297.5:p.Ile573Val
ENST00000322910.9:c.*1672A>G ENSP00000325395.5:n.*1672A>G
ENST00000350303.9:c.1651A>G ENSP00000344152.5:p.Ile551Val
ENST00000356839.9:c.1717A>G ENSP00000349297.5:p.Ile573Val
ENST00000542255.6:c.537-35A>G
ENST00000543245.6:c.1786A>G ENSP00000438689.2:p.Ile596Val
ENST00000578033.1:n.48A>G
ENST00000578319.5:n.298A>G
ENST00000578711.1:n.1176A>G
ENST00000578809.5:n.289A>G
ENST00000579425.5:n.833A>G
ENST00000579546.1:c.452A>G
ENST00000583074.5:n.300-35A>G
ENST00000583848.5:c.83A>G ENSP00000466487.1:p.His28Arg
ENST00000583850.5:n.488A>G
ENST00000583858.5:c.648A>G
ENST00000585203.6:n.908A>G
NM_000018.3:c.1717A>G NP_000009.1:p.Ile573Val
NM_001033859.2:c.1651A>G NP_001029031.1:p.Ile551Val
NM_001270447.1:c.1786A>G NP_001257376.1:p.Ile596Val
NM_001270448.1:c.1489A>G NP_001257377.1:p.Ile497Val
XM_006721516.2:c.1679-35A>G XP_006721579.2:n.1679-35A>G
XM_011523829.1:c.1577-35A>G XP_011522131.1:n.1577-35A>G
XM_011523830.1:c.1615A>G XP_011522132.1:p.Ile539Val
XR_934021.1:n.1820A>G
XR_934022.1:n.1726A>G
XR_934023.1:n.1688-35A>G
XM_006721516.3:c.1679-35A>G XP_006721579.2:n.1679-35A>G
XM_011523829.2:c.1577-35A>G XP_011522131.1:n.1577-35A>G
XM_011523830.2:c.1615A>G XP_011522132.1:p.Ile539Val
XM_024450741.1:c.1705A>G XP_024306509.1:p.Ile569Val
XR_934021.2:n.1772A>G
XR_934022.2:n.1678A>G
XR_934023.2:n.1640-35A>G
NM_000018.4:c.1717A>G MANE Select NP_000009.1:p.Ile573Val
NM_001033859.3:c.1651A>G NP_001029031.1:p.Ile551Val
NM_001270447.2:c.1786A>G NP_001257376.1:p.Ile596Val
NM_001270448.2:c.1489A>G NP_001257377.1:p.Ile497Val