Canonical Allele Identifier: CA397725655
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224647C>A , CM000679.2:g.7224647C>A GRCh38
NC_000017.10:g.7127966C>A , CM000679.1:g.7127966C>A GRCh37
NC_000017.9:g.7068690C>A NCBI36
NG_007975.1:g.9814C>A
NG_008391.2:g.404G>T
NG_033038.1:g.14898G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1684C>A MANE Select ENSP00000349297.5:p.Gln562Lys
ENST00000322910.9:c.*1639C>A ENSP00000325395.5:n.*1639C>A
ENST00000350303.9:c.1618C>A ENSP00000344152.5:p.Gln540Lys
ENST00000356839.9:c.1684C>A ENSP00000349297.5:p.Gln562Lys
ENST00000542255.6:c.537-68C>A
ENST00000543245.6:c.1753C>A ENSP00000438689.2:p.Gln585Lys
ENST00000578033.1:n.15C>A
ENST00000578319.5:n.265C>A
ENST00000578711.1:n.1143C>A
ENST00000578809.5:n.256C>A
ENST00000579425.5:n.800C>A
ENST00000579546.1:c.419C>A
ENST00000582450.1:n.281C>A
ENST00000583074.5:n.300-68C>A
ENST00000583848.5:c.65-15C>A ENSP00000466487.1:n.65-15C>A
ENST00000583850.5:n.455C>A
ENST00000583858.5:c.615C>A
ENST00000585203.6:n.875C>A
NM_000018.3:c.1684C>A NP_000009.1:p.Gln562Lys
NM_001033859.2:c.1618C>A NP_001029031.1:p.Gln540Lys
NM_001270447.1:c.1753C>A NP_001257376.1:p.Gln585Lys
NM_001270448.1:c.1456C>A NP_001257377.1:p.Gln486Lys
XM_006721516.2:c.1679-68C>A XP_006721579.2:n.1679-68C>A
XM_011523829.1:c.1577-68C>A XP_011522131.1:n.1577-68C>A
XM_011523830.1:c.1582C>A XP_011522132.1:p.Gln528Lys
XR_934021.1:n.1787C>A
XR_934022.1:n.1693C>A
XR_934023.1:n.1688-68C>A
XM_006721516.3:c.1679-68C>A XP_006721579.2:n.1679-68C>A
XM_011523829.2:c.1577-68C>A XP_011522131.1:n.1577-68C>A
XM_011523830.2:c.1582C>A XP_011522132.1:p.Gln528Lys
XM_024450741.1:c.1672C>A XP_024306509.1:p.Gln558Lys
XR_934021.2:n.1739C>A
XR_934022.2:n.1645C>A
XR_934023.2:n.1640-68C>A
NM_000018.4:c.1684C>A MANE Select NP_000009.1:p.Gln562Lys
NM_001033859.3:c.1618C>A NP_001029031.1:p.Gln540Lys
NM_001270447.2:c.1753C>A NP_001257376.1:p.Gln585Lys
NM_001270448.2:c.1456C>A NP_001257377.1:p.Gln486Lys