Canonical Allele Identifier: CA2245701558
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222295A= , CM000679.2:g.7222295A= GRCh38
NC_000017.10:g.7125614A= , CM000679.1:g.7125614A= GRCh37
NC_000017.9:g.7066338A= NCBI36
NG_007975.1:g.7462A=
NG_008391.2:g.2756T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.871A= MANE Select ENSP00000349297.5:p.Ile291=
ENST00000322910.9:c.*826A= ENSP00000325395.5:n.*826A=
ENST00000350303.9:c.805A= ENSP00000344152.5:p.Ile269=
ENST00000356839.9:c.871A= ENSP00000349297.5:p.Ile291=
ENST00000543245.6:c.940A= ENSP00000438689.2:p.Ile314=
ENST00000577191.5:n.1043A=
ENST00000581378.5:c.589A=
ENST00000582379.1:n.255A=
NM_000018.3:c.871A= NP_000009.1:p.Ile291=
NM_001033859.2:c.805A= NP_001029031.1:p.Ile269=
NM_001270447.1:c.940A= NP_001257376.1:p.Ile314=
NM_001270448.1:c.643A= NP_001257377.1:p.Ile215=
XM_006721516.2:c.871A= XP_006721579.2:p.Ile291=
XM_011523829.1:c.871A= XP_011522131.1:p.Ile291=
XM_011523830.1:c.871A= XP_011522132.1:p.Ile291=
XR_934021.1:n.978A=
XR_934022.1:n.978A=
XR_934023.1:n.978A=
XM_006721516.3:c.871A= XP_006721579.2:p.Ile291=
XM_011523829.2:c.871A= XP_011522131.1:p.Ile291=
XM_011523830.2:c.871A= XP_011522132.1:p.Ile291=
XM_024450741.1:c.871A= XP_024306509.1:p.Ile291=
XR_934021.2:n.930A=
XR_934022.2:n.930A=
XR_934023.2:n.930A=
NM_000018.4:c.871A= MANE Select NP_000009.1:p.Ile291=
NM_001033859.3:c.805A= NP_001029031.1:p.Ile269=
NM_001270447.2:c.940A= NP_001257376.1:p.Ile314=
NM_001270448.2:c.643A= NP_001257377.1:p.Ile215=