Canonical Allele Identifier: CA2245701303
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222203C= , CM000679.2:g.7222203C= GRCh38
NC_000017.10:g.7125522C= , CM000679.1:g.7125522C= GRCh37
NC_000017.9:g.7066246C= NCBI36
NG_007975.1:g.7370C=
NG_008391.2:g.2848G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.779C= MANE Select ENSP00000349297.5:p.Thr260=
ENST00000322910.9:c.*734C= ENSP00000325395.5:n.*734C=
ENST00000350303.9:c.713C= ENSP00000344152.5:p.Thr238=
ENST00000356839.9:c.779C= ENSP00000349297.5:p.Thr260=
ENST00000543245.6:c.848C= ENSP00000438689.2:p.Thr283=
ENST00000577191.5:n.951C=
ENST00000581378.5:c.497C=
ENST00000582379.1:n.163C=
NM_000018.3:c.779C= NP_000009.1:p.Thr260=
NM_001033859.2:c.713C= NP_001029031.1:p.Thr238=
NM_001270447.1:c.848C= NP_001257376.1:p.Thr283=
NM_001270448.1:c.551C= NP_001257377.1:p.Thr184=
XM_006721516.2:c.779C= XP_006721579.2:p.Thr260=
XM_011523829.1:c.779C= XP_011522131.1:p.Thr260=
XM_011523830.1:c.779C= XP_011522132.1:p.Thr260=
XR_934021.1:n.886C=
XR_934022.1:n.886C=
XR_934023.1:n.886C=
XM_006721516.3:c.779C= XP_006721579.2:p.Thr260=
XM_011523829.2:c.779C= XP_011522131.1:p.Thr260=
XM_011523830.2:c.779C= XP_011522132.1:p.Thr260=
XM_024450741.1:c.779C= XP_024306509.1:p.Thr260=
XR_934021.2:n.838C=
XR_934022.2:n.838C=
XR_934023.2:n.838C=
NM_000018.4:c.779C= MANE Select NP_000009.1:p.Thr260=
NM_001033859.3:c.713C= NP_001029031.1:p.Thr238=
NM_001270447.2:c.848C= NP_001257376.1:p.Thr283=
NM_001270448.2:c.551C= NP_001257377.1:p.Thr184=