Canonical Allele Identifier: CA2245701046
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222065A= , CM000679.2:g.7222065A= GRCh38
NC_000017.10:g.7125384A= , CM000679.1:g.7125384A= GRCh37
NC_000017.9:g.7066108A= NCBI36
NG_007975.1:g.7232A=
NG_008391.2:g.2986T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.736A= MANE Select ENSP00000349297.5:p.Ser246=
ENST00000322910.9:c.*691A= ENSP00000325395.5:n.*691A=
ENST00000350303.9:c.670A= ENSP00000344152.5:p.Ser224=
ENST00000356839.9:c.736A= ENSP00000349297.5:p.Ser246=
ENST00000543245.6:c.805A= ENSP00000438689.2:p.Ser269=
ENST00000577191.5:n.813A=
ENST00000577857.5:n.552A=
ENST00000579286.5:n.917A=
ENST00000580365.1:n.467A=
ENST00000581378.5:c.454A=
ENST00000582379.1:n.120A=
ENST00000583760.1:n.518A=
NM_000018.3:c.736A= NP_000009.1:p.Ser246=
NM_001033859.2:c.670A= NP_001029031.1:p.Ser224=
NM_001270447.1:c.805A= NP_001257376.1:p.Ser269=
NM_001270448.1:c.508A= NP_001257377.1:p.Ser170=
XM_006721516.2:c.736A= XP_006721579.2:p.Ser246=
XM_011523829.1:c.736A= XP_011522131.1:p.Ser246=
XM_011523830.1:c.736A= XP_011522132.1:p.Ser246=
XR_934021.1:n.843A=
XR_934022.1:n.843A=
XR_934023.1:n.843A=
XM_006721516.3:c.736A= XP_006721579.2:p.Ser246=
XM_011523829.2:c.736A= XP_011522131.1:p.Ser246=
XM_011523830.2:c.736A= XP_011522132.1:p.Ser246=
XM_024450741.1:c.736A= XP_024306509.1:p.Ser246=
XR_934021.2:n.795A=
XR_934022.2:n.795A=
XR_934023.2:n.795A=
NM_000018.4:c.736A= MANE Select NP_000009.1:p.Ser246=
NM_001033859.3:c.670A= NP_001029031.1:p.Ser224=
NM_001270447.2:c.805A= NP_001257376.1:p.Ser269=
NM_001270448.2:c.508A= NP_001257377.1:p.Ser170=