Canonical Allele Identifier: CA2245700917
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222015G= , CM000679.2:g.7222015G= GRCh38
NC_000017.10:g.7125334G= , CM000679.1:g.7125334G= GRCh37
NC_000017.9:g.7066058G= NCBI36
NG_007975.1:g.7182G=
NG_008391.2:g.3036C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.686G= MANE Select ENSP00000349297.5:p.Arg229=
ENST00000322910.9:c.*641G= ENSP00000325395.5:n.*641G=
ENST00000350303.9:c.620G= ENSP00000344152.5:p.Arg207=
ENST00000356839.9:c.686G= ENSP00000349297.5:p.Arg229=
ENST00000543245.6:c.755G= ENSP00000438689.2:p.Arg252=
ENST00000577191.5:n.763G=
ENST00000577857.5:n.502G=
ENST00000579286.5:n.867G=
ENST00000580365.1:n.417G=
ENST00000581378.5:c.404G=
ENST00000582379.1:n.70G=
ENST00000583760.1:n.468G=
NM_000018.3:c.686G= NP_000009.1:p.Arg229=
NM_001033859.2:c.620G= NP_001029031.1:p.Arg207=
NM_001270447.1:c.755G= NP_001257376.1:p.Arg252=
NM_001270448.1:c.458G= NP_001257377.1:p.Arg153=
XM_006721516.2:c.686G= XP_006721579.2:p.Arg229=
XM_011523829.1:c.686G= XP_011522131.1:p.Arg229=
XM_011523830.1:c.686G= XP_011522132.1:p.Arg229=
XR_934021.1:n.793G=
XR_934022.1:n.793G=
XR_934023.1:n.793G=
XM_006721516.3:c.686G= XP_006721579.2:p.Arg229=
XM_011523829.2:c.686G= XP_011522131.1:p.Arg229=
XM_011523830.2:c.686G= XP_011522132.1:p.Arg229=
XM_024450741.1:c.686G= XP_024306509.1:p.Arg229=
XR_934021.2:n.745G=
XR_934022.2:n.745G=
XR_934023.2:n.745G=
NM_000018.4:c.686G= MANE Select NP_000009.1:p.Arg229=
NM_001033859.3:c.620G= NP_001029031.1:p.Arg207=
NM_001270447.2:c.755G= NP_001257376.1:p.Arg252=
NM_001270448.2:c.458G= NP_001257377.1:p.Arg153=