Canonical Allele Identifier: CA2245701308
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222204G= , CM000679.2:g.7222204G= GRCh38
NC_000017.10:g.7125523G= , CM000679.1:g.7125523G= GRCh37
NC_000017.9:g.7066247G= NCBI36
NG_007975.1:g.7371G=
NG_008391.2:g.2847C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.780G= MANE Select ENSP00000349297.5:p.Thr260=
ENST00000322910.9:c.*735G= ENSP00000325395.5:n.*735G=
ENST00000350303.9:c.714G= ENSP00000344152.5:p.Thr238=
ENST00000356839.9:c.780G= ENSP00000349297.5:p.Thr260=
ENST00000543245.6:c.849G= ENSP00000438689.2:p.Thr283=
ENST00000577191.5:n.952G=
ENST00000581378.5:c.498G=
ENST00000582379.1:n.164G=
NM_000018.3:c.780G= NP_000009.1:p.Thr260=
NM_001033859.2:c.714G= NP_001029031.1:p.Thr238=
NM_001270447.1:c.849G= NP_001257376.1:p.Thr283=
NM_001270448.1:c.552G= NP_001257377.1:p.Thr184=
XM_006721516.2:c.780G= XP_006721579.2:p.Thr260=
XM_011523829.1:c.780G= XP_011522131.1:p.Thr260=
XM_011523830.1:c.780G= XP_011522132.1:p.Thr260=
XR_934021.1:n.887G=
XR_934022.1:n.887G=
XR_934023.1:n.887G=
XM_006721516.3:c.780G= XP_006721579.2:p.Thr260=
XM_011523829.2:c.780G= XP_011522131.1:p.Thr260=
XM_011523830.2:c.780G= XP_011522132.1:p.Thr260=
XM_024450741.1:c.780G= XP_024306509.1:p.Thr260=
XR_934021.2:n.839G=
XR_934022.2:n.839G=
XR_934023.2:n.839G=
NM_000018.4:c.780G= MANE Select NP_000009.1:p.Thr260=
NM_001033859.3:c.714G= NP_001029031.1:p.Thr238=
NM_001270447.2:c.849G= NP_001257376.1:p.Thr283=
NM_001270448.2:c.552G= NP_001257377.1:p.Thr184=