Canonical Allele Identifier: CA2245716730
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7225135C= , CM000679.2:g.7225135C= GRCh38
NC_000017.10:g.7128454C= , CM000679.1:g.7128454C= GRCh37
NC_000017.9:g.7069178C= NCBI36
NG_007975.1:g.10302C=
NG_033038.1:g.14410G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.*38C= MANE Select ENSP00000349297.5:n.*38C=
ENST00000322910.9:c.*1961C= ENSP00000325395.5:n.*1961C=
ENST00000350303.9:c.*38C= ENSP00000344152.5:n.*38C=
ENST00000356839.9:c.*38C= ENSP00000349297.5:n.*38C=
ENST00000542255.6:c.885C=
ENST00000543245.6:c.*38C= ENSP00000438689.2:n.*38C=
ENST00000578033.1:n.431C=
ENST00000578319.5:n.587C=
ENST00000578711.1:n.1631C=
ENST00000578809.5:n.578C=
ENST00000579425.5:n.1122C=
ENST00000583848.5:c.372C= ENSP00000466487.1:n.372C=
ENST00000583850.5:n.777C=
ENST00000583858.5:c.937C=
NM_000018.3:c.*38C= NP_000009.1:n.*38C=
NM_001033859.2:c.*38C= NP_001029031.1:n.*38C=
NM_001270447.1:c.*38C= NP_001257376.1:n.*38C=
NM_001270448.1:c.*38C= NP_001257377.1:n.*38C=
XM_006721516.2:c.*38C= XP_006721579.2:n.*38C=
XM_011523829.1:c.*38C= XP_011522131.1:n.*38C=
XM_011523830.1:c.*38C= XP_011522132.1:n.*38C=
XR_934021.1:n.2109C=
XR_934022.1:n.2015C=
XR_934023.1:n.2036C=
XM_006721516.3:c.*38C= XP_006721579.2:n.*38C=
XM_011523829.2:c.*38C= XP_011522131.1:n.*38C=
XM_011523830.2:c.*38C= XP_011522132.1:n.*38C=
XM_024450741.1:c.*38C= XP_024306509.1:n.*38C=
XR_934021.2:n.2061C=
XR_934022.2:n.1967C=
XR_934023.2:n.1988C=
NM_000018.4:c.*38C= MANE Select NP_000009.1:n.*38C=
NM_001033859.3:c.*38C= NP_001029031.1:n.*38C=
NM_001270447.2:c.*38C= NP_001257376.1:n.*38C=
NM_001270448.2:c.*38C= NP_001257377.1:n.*38C=