Canonical Allele Identifier: CA397725547
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224514T>G , CM000679.2:g.7224514T>G GRCh38
NC_000017.10:g.7127833T>G , CM000679.1:g.7127833T>G GRCh37
NC_000017.9:g.7068557T>G NCBI36
NG_007975.1:g.9681T>G
NG_008391.2:g.537A>C
NG_033038.1:g.15031A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1640T>G MANE Select ENSP00000349297.5:p.Val547Gly
ENST00000322910.9:c.*1595T>G ENSP00000325395.5:n.*1595T>G
ENST00000350303.9:c.1574T>G ENSP00000344152.5:p.Val525Gly
ENST00000356839.9:c.1640T>G ENSP00000349297.5:p.Val547Gly
ENST00000542255.6:c.498T>G
ENST00000543245.6:c.1709T>G ENSP00000438689.2:p.Val570Gly
ENST00000578319.5:n.221T>G
ENST00000578711.1:n.1010T>G
ENST00000578809.5:n.212T>G
ENST00000579391.1:n.244T>G
ENST00000579425.5:n.756T>G
ENST00000579546.1:c.375T>G
ENST00000579894.5:n.427T>G
ENST00000582450.1:n.148T>G
ENST00000583074.5:n.261T>G
ENST00000583848.5:c.26T>G ENSP00000466487.1:p.Val9Gly
ENST00000583850.5:n.411T>G
ENST00000583858.5:c.571T>G
ENST00000585203.6:n.831T>G
NM_000018.3:c.1640T>G NP_000009.1:p.Val547Gly
NM_001033859.2:c.1574T>G NP_001029031.1:p.Val525Gly
NM_001270447.1:c.1709T>G NP_001257376.1:p.Val570Gly
NM_001270448.1:c.1412T>G NP_001257377.1:p.Val471Gly
XM_006721516.2:c.1640T>G XP_006721579.2:p.Val547Gly
XM_011523829.1:c.1538T>G XP_011522131.1:p.Val513Gly
XM_011523830.1:c.1538T>G XP_011522132.1:p.Val513Gly
XR_934021.1:n.1743T>G
XR_934022.1:n.1649T>G
XR_934023.1:n.1649T>G
XM_006721516.3:c.1640T>G XP_006721579.2:p.Val547Gly
XM_011523829.2:c.1538T>G XP_011522131.1:p.Val513Gly
XM_011523830.2:c.1538T>G XP_011522132.1:p.Val513Gly
XM_024450741.1:c.1628T>G XP_024306509.1:p.Val543Gly
XR_934021.2:n.1695T>G
XR_934022.2:n.1601T>G
XR_934023.2:n.1601T>G
NM_000018.4:c.1640T>G MANE Select NP_000009.1:p.Val547Gly
NM_001033859.3:c.1574T>G NP_001029031.1:p.Val525Gly
NM_001270447.2:c.1709T>G NP_001257376.1:p.Val570Gly
NM_001270448.2:c.1412T>G NP_001257377.1:p.Val471Gly