Canonical Allele Identifier: CA2245701445
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222247G= , CM000679.2:g.7222247G= GRCh38
NC_000017.10:g.7125566G= , CM000679.1:g.7125566G= GRCh37
NC_000017.9:g.7066290G= NCBI36
NG_007975.1:g.7414G=
NG_008391.2:g.2804C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.823G= MANE Select ENSP00000349297.5:p.Val275=
ENST00000322910.9:c.*778G= ENSP00000325395.5:n.*778G=
ENST00000350303.9:c.757G= ENSP00000344152.5:p.Val253=
ENST00000356839.9:c.823G= ENSP00000349297.5:p.Val275=
ENST00000543245.6:c.892G= ENSP00000438689.2:p.Val298=
ENST00000577191.5:n.995G=
ENST00000581378.5:c.541G=
ENST00000582379.1:n.207G=
NM_000018.3:c.823G= NP_000009.1:p.Val275=
NM_001033859.2:c.757G= NP_001029031.1:p.Val253=
NM_001270447.1:c.892G= NP_001257376.1:p.Val298=
NM_001270448.1:c.595G= NP_001257377.1:p.Val199=
XM_006721516.2:c.823G= XP_006721579.2:p.Val275=
XM_011523829.1:c.823G= XP_011522131.1:p.Val275=
XM_011523830.1:c.823G= XP_011522132.1:p.Val275=
XR_934021.1:n.930G=
XR_934022.1:n.930G=
XR_934023.1:n.930G=
XM_006721516.3:c.823G= XP_006721579.2:p.Val275=
XM_011523829.2:c.823G= XP_011522131.1:p.Val275=
XM_011523830.2:c.823G= XP_011522132.1:p.Val275=
XM_024450741.1:c.823G= XP_024306509.1:p.Val275=
XR_934021.2:n.882G=
XR_934022.2:n.882G=
XR_934023.2:n.882G=
NM_000018.4:c.823G= MANE Select NP_000009.1:p.Val275=
NM_001033859.3:c.757G= NP_001029031.1:p.Val253=
NM_001270447.2:c.892G= NP_001257376.1:p.Val298=
NM_001270448.2:c.595G= NP_001257377.1:p.Val199=