Canonical Allele Identifier: CA2245701398
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222232C= , CM000679.2:g.7222232C= GRCh38
NC_000017.10:g.7125551C= , CM000679.1:g.7125551C= GRCh37
NC_000017.9:g.7066275C= NCBI36
NG_007975.1:g.7399C=
NG_008391.2:g.2819G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.808C= MANE Select ENSP00000349297.5:p.Pro270=
ENST00000322910.9:c.*763C= ENSP00000325395.5:n.*763C=
ENST00000350303.9:c.742C= ENSP00000344152.5:p.Pro248=
ENST00000356839.9:c.808C= ENSP00000349297.5:p.Pro270=
ENST00000543245.6:c.877C= ENSP00000438689.2:p.Pro293=
ENST00000577191.5:n.980C=
ENST00000581378.5:c.526C=
ENST00000582379.1:n.192C=
NM_000018.3:c.808C= NP_000009.1:p.Pro270=
NM_001033859.2:c.742C= NP_001029031.1:p.Pro248=
NM_001270447.1:c.877C= NP_001257376.1:p.Pro293=
NM_001270448.1:c.580C= NP_001257377.1:p.Pro194=
XM_006721516.2:c.808C= XP_006721579.2:p.Pro270=
XM_011523829.1:c.808C= XP_011522131.1:p.Pro270=
XM_011523830.1:c.808C= XP_011522132.1:p.Pro270=
XR_934021.1:n.915C=
XR_934022.1:n.915C=
XR_934023.1:n.915C=
XM_006721516.3:c.808C= XP_006721579.2:p.Pro270=
XM_011523829.2:c.808C= XP_011522131.1:p.Pro270=
XM_011523830.2:c.808C= XP_011522132.1:p.Pro270=
XM_024450741.1:c.808C= XP_024306509.1:p.Pro270=
XR_934021.2:n.867C=
XR_934022.2:n.867C=
XR_934023.2:n.867C=
NM_000018.4:c.808C= MANE Select NP_000009.1:p.Pro270=
NM_001033859.3:c.742C= NP_001029031.1:p.Pro248=
NM_001270447.2:c.877C= NP_001257376.1:p.Pro293=
NM_001270448.2:c.580C= NP_001257377.1:p.Pro194=