Canonical Allele Identifier: CA2245715047
Gene: ACADVL HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1684C= MANE Select ENSP00000349297.5:p.Gln562=
ENST00000322910.9:c.*1639C= ENSP00000325395.5:n.*1639C=
ENST00000350303.9:c.1618C= ENSP00000344152.5:p.Gln540=
ENST00000356839.9:c.1684C= ENSP00000349297.5:p.Gln562=
ENST00000542255.6:c.537-68C=
ENST00000543245.6:c.1753C= ENSP00000438689.2:p.Gln585=
ENST00000578033.1:n.15C=
ENST00000578319.5:n.265C=
ENST00000578711.1:n.1143C=
ENST00000578809.5:n.256C=
ENST00000579425.5:n.800C=
ENST00000579546.1:c.419C=
ENST00000582450.1:n.281C=
ENST00000583074.5:n.300-68C=
ENST00000583848.5:c.65-15C= ENSP00000466487.1:n.65-15C=
ENST00000583850.5:n.455C=
ENST00000583858.5:c.615C=
ENST00000585203.6:n.875C=
NM_000018.3:c.1684C= NP_000009.1:p.Gln562=
NM_001033859.2:c.1618C= NP_001029031.1:p.Gln540=
NM_001270447.1:c.1753C= NP_001257376.1:p.Gln585=
NM_001270448.1:c.1456C= NP_001257377.1:p.Gln486=
XM_006721516.2:c.1679-68C= XP_006721579.2:n.1679-68C=
XM_011523829.1:c.1577-68C= XP_011522131.1:n.1577-68C=
XM_011523830.1:c.1582C= XP_011522132.1:p.Gln528=
XR_934021.1:n.1787C=
XR_934022.1:n.1693C=
XR_934023.1:n.1688-68C=
XM_006721516.3:c.1679-68C= XP_006721579.2:n.1679-68C=
XM_011523829.2:c.1577-68C= XP_011522131.1:n.1577-68C=
XM_011523830.2:c.1582C= XP_011522132.1:p.Gln528=
XM_024450741.1:c.1672C= XP_024306509.1:p.Gln558=
XR_934021.2:n.1739C=
XR_934022.2:n.1645C=
XR_934023.2:n.1640-68C=
NM_000018.4:c.1684C= MANE Select NP_000009.1:p.Gln562=
NM_001033859.3:c.1618C= NP_001029031.1:p.Gln540=
NM_001270447.2:c.1753C= NP_001257376.1:p.Gln585=
NM_001270448.2:c.1456C= NP_001257377.1:p.Gln486=