Canonical Allele Identifier: CA397725645
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224643T>A , CM000679.2:g.7224643T>A GRCh38
NC_000017.10:g.7127962T>A , CM000679.1:g.7127962T>A GRCh37
NC_000017.9:g.7068686T>A NCBI36
NG_007975.1:g.9810T>A
NG_008391.2:g.408A>T
NG_033038.1:g.14902A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1680T>A MANE Select ENSP00000349297.5:p.Asn560Lys
ENST00000322910.9:c.*1635T>A ENSP00000325395.5:n.*1635T>A
ENST00000350303.9:c.1614T>A ENSP00000344152.5:p.Asn538Lys
ENST00000356839.9:c.1680T>A ENSP00000349297.5:p.Asn560Lys
ENST00000542255.6:c.537-72T>A
ENST00000543245.6:c.1749T>A ENSP00000438689.2:p.Asn583Lys
ENST00000578033.1:n.11T>A
ENST00000578319.5:n.261T>A
ENST00000578711.1:n.1139T>A
ENST00000578809.5:n.252T>A
ENST00000579425.5:n.796T>A
ENST00000579546.1:c.415T>A
ENST00000582450.1:n.277T>A
ENST00000583074.5:n.300-72T>A
ENST00000583848.5:c.65-19T>A ENSP00000466487.1:n.65-19T>A
ENST00000583850.5:n.451T>A
ENST00000583858.5:c.611T>A
ENST00000585203.6:n.871T>A
NM_000018.3:c.1680T>A NP_000009.1:p.Asn560Lys
NM_001033859.2:c.1614T>A NP_001029031.1:p.Asn538Lys
NM_001270447.1:c.1749T>A NP_001257376.1:p.Asn583Lys
NM_001270448.1:c.1452T>A NP_001257377.1:p.Asn484Lys
XM_006721516.2:c.1679-72T>A XP_006721579.2:n.1679-72T>A
XM_011523829.1:c.1577-72T>A XP_011522131.1:n.1577-72T>A
XM_011523830.1:c.1578T>A XP_011522132.1:p.Asn526Lys
XR_934021.1:n.1783T>A
XR_934022.1:n.1689T>A
XR_934023.1:n.1688-72T>A
XM_006721516.3:c.1679-72T>A XP_006721579.2:n.1679-72T>A
XM_011523829.2:c.1577-72T>A XP_011522131.1:n.1577-72T>A
XM_011523830.2:c.1578T>A XP_011522132.1:p.Asn526Lys
XM_024450741.1:c.1668T>A XP_024306509.1:p.Asn556Lys
XR_934021.2:n.1735T>A
XR_934022.2:n.1641T>A
XR_934023.2:n.1640-72T>A
NM_000018.4:c.1680T>A MANE Select NP_000009.1:p.Asn560Lys
NM_001033859.3:c.1614T>A NP_001029031.1:p.Asn538Lys
NM_001270447.2:c.1749T>A NP_001257376.1:p.Asn583Lys
NM_001270448.2:c.1452T>A NP_001257377.1:p.Asn484Lys