Canonical Allele Identifier: CA397725656
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1684C>T MANE Select ENSP00000349297.5:p.Gln562Ter
ENST00000322910.9:c.*1639C>T ENSP00000325395.5:n.*1639C>T
ENST00000350303.9:c.1618C>T ENSP00000344152.5:p.Gln540Ter
ENST00000356839.9:c.1684C>T ENSP00000349297.5:p.Gln562Ter
ENST00000542255.6:c.537-68C>T
ENST00000543245.6:c.1753C>T ENSP00000438689.2:p.Gln585Ter
ENST00000578033.1:n.15C>T
ENST00000578319.5:n.265C>T
ENST00000578711.1:n.1143C>T
ENST00000578809.5:n.256C>T
ENST00000579425.5:n.800C>T
ENST00000579546.1:c.419C>T
ENST00000582450.1:n.281C>T
ENST00000583074.5:n.300-68C>T
ENST00000583848.5:c.65-15C>T ENSP00000466487.1:n.65-15C>T
ENST00000583850.5:n.455C>T
ENST00000583858.5:c.615C>T
ENST00000585203.6:n.875C>T
NM_000018.3:c.1684C>T NP_000009.1:p.Gln562Ter
NM_001033859.2:c.1618C>T NP_001029031.1:p.Gln540Ter
NM_001270447.1:c.1753C>T NP_001257376.1:p.Gln585Ter
NM_001270448.1:c.1456C>T NP_001257377.1:p.Gln486Ter
XM_006721516.2:c.1679-68C>T XP_006721579.2:n.1679-68C>T
XM_011523829.1:c.1577-68C>T XP_011522131.1:n.1577-68C>T
XM_011523830.1:c.1582C>T XP_011522132.1:p.Gln528Ter
XR_934021.1:n.1787C>T
XR_934022.1:n.1693C>T
XR_934023.1:n.1688-68C>T
XM_006721516.3:c.1679-68C>T XP_006721579.2:n.1679-68C>T
XM_011523829.2:c.1577-68C>T XP_011522131.1:n.1577-68C>T
XM_011523830.2:c.1582C>T XP_011522132.1:p.Gln528Ter
XM_024450741.1:c.1672C>T XP_024306509.1:p.Gln558Ter
XR_934021.2:n.1739C>T
XR_934022.2:n.1645C>T
XR_934023.2:n.1640-68C>T
NM_000018.4:c.1684C>T MANE Select NP_000009.1:p.Gln562Ter
NM_001033859.3:c.1618C>T NP_001029031.1:p.Gln540Ter
NM_001270447.2:c.1753C>T NP_001257376.1:p.Gln585Ter
NM_001270448.2:c.1456C>T NP_001257377.1:p.Gln486Ter