Canonical Allele Identifier: CA2245711629
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223702A= , CM000679.2:g.7223702A= GRCh38
NC_000017.10:g.7127021A= , CM000679.1:g.7127021A= GRCh37
NC_000017.9:g.7067745A= NCBI36
NG_007975.1:g.8869A=
NG_008391.2:g.1349T=
NG_033038.1:g.15843T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1241A= MANE Select ENSP00000349297.5:p.Glu414=
ENST00000322910.9:c.*1196A= ENSP00000325395.5:n.*1196A=
ENST00000350303.9:c.1175A= ENSP00000344152.5:p.Glu392=
ENST00000356839.9:c.1241A= ENSP00000349297.5:p.Glu414=
ENST00000542255.6:c.99A=
ENST00000543245.6:c.1310A= ENSP00000438689.2:p.Glu437=
ENST00000578579.2:n.412A=
ENST00000578711.1:n.198A=
ENST00000578824.5:n.657A=
ENST00000579425.5:n.265A=
ENST00000579546.1:c.78A=
ENST00000583850.5:n.16A=
ENST00000583858.5:c.270A=
ENST00000585203.6:n.449A=
NM_000018.3:c.1241A= NP_000009.1:p.Glu414=
NM_001033859.2:c.1175A= NP_001029031.1:p.Glu392=
NM_001270447.1:c.1310A= NP_001257376.1:p.Glu437=
NM_001270448.1:c.1013A= NP_001257377.1:p.Glu338=
XM_006721516.2:c.1241A= XP_006721579.2:p.Glu414=
XM_011523829.1:c.1241A= XP_011522131.1:p.Glu414=
XM_011523830.1:c.1241A= XP_011522132.1:p.Glu414=
XR_934021.1:n.1348A=
XR_934022.1:n.1348A=
XR_934023.1:n.1348A=
XM_006721516.3:c.1241A= XP_006721579.2:p.Glu414=
XM_011523829.2:c.1241A= XP_011522131.1:p.Glu414=
XM_011523830.2:c.1241A= XP_011522132.1:p.Glu414=
XM_024450741.1:c.1241A= XP_024306509.1:p.Glu414=
XR_934021.2:n.1300A=
XR_934022.2:n.1300A=
XR_934023.2:n.1300A=
NM_000018.4:c.1241A= MANE Select NP_000009.1:p.Glu414=
NM_001033859.3:c.1175A= NP_001029031.1:p.Glu392=
NM_001270447.2:c.1310A= NP_001257376.1:p.Glu437=
NM_001270448.2:c.1013A= NP_001257377.1:p.Glu338=