Canonical Allele Identifier: CA2245715052
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224648A= , CM000679.2:g.7224648A= GRCh38
NC_000017.10:g.7127967A= , CM000679.1:g.7127967A= GRCh37
NC_000017.9:g.7068691A= NCBI36
NG_007975.1:g.9815A=
NG_008391.2:g.403T=
NG_033038.1:g.14897T=

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1685A= MANE Select ENSP00000349297.5:p.Gln562=
ENST00000322910.9:c.*1640A= ENSP00000325395.5:n.*1640A=
ENST00000350303.9:c.1619A= ENSP00000344152.5:p.Gln540=
ENST00000356839.9:c.1685A= ENSP00000349297.5:p.Gln562=
ENST00000542255.6:c.537-67A=
ENST00000543245.6:c.1754A= ENSP00000438689.2:p.Gln585=
ENST00000578033.1:n.16A=
ENST00000578319.5:n.266A=
ENST00000578711.1:n.1144A=
ENST00000578809.5:n.257A=
ENST00000579425.5:n.801A=
ENST00000579546.1:c.420A=
ENST00000582450.1:n.282A=
ENST00000583074.5:n.300-67A=
ENST00000583848.5:c.65-14A= ENSP00000466487.1:n.65-14A=
ENST00000583850.5:n.456A=
ENST00000583858.5:c.616A=
ENST00000585203.6:n.876A=
NM_000018.3:c.1685A= NP_000009.1:p.Gln562=
NM_001033859.2:c.1619A= NP_001029031.1:p.Gln540=
NM_001270447.1:c.1754A= NP_001257376.1:p.Gln585=
NM_001270448.1:c.1457A= NP_001257377.1:p.Gln486=
XM_006721516.2:c.1679-67A= XP_006721579.2:n.1679-67A=
XM_011523829.1:c.1577-67A= XP_011522131.1:n.1577-67A=
XM_011523830.1:c.1583A= XP_011522132.1:p.Gln528=
XR_934021.1:n.1788A=
XR_934022.1:n.1694A=
XR_934023.1:n.1688-67A=
XM_006721516.3:c.1679-67A= XP_006721579.2:n.1679-67A=
XM_011523829.2:c.1577-67A= XP_011522131.1:n.1577-67A=
XM_011523830.2:c.1583A= XP_011522132.1:p.Gln528=
XM_024450741.1:c.1673A= XP_024306509.1:p.Gln558=
XR_934021.2:n.1740A=
XR_934022.2:n.1646A=
XR_934023.2:n.1640-67A=
NM_000018.4:c.1685A= MANE Select NP_000009.1:p.Gln562=
NM_001033859.3:c.1619A= NP_001029031.1:p.Gln540=
NM_001270447.2:c.1754A= NP_001257376.1:p.Gln585=
NM_001270448.2:c.1457A= NP_001257377.1:p.Gln486=