Canonical Allele Identifier: CA2245716094
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224973G= , CM000679.2:g.7224973G= GRCh38
NC_000017.10:g.7128292G= , CM000679.1:g.7128292G= GRCh37
NC_000017.9:g.7069016G= NCBI36
NG_007975.1:g.10140G=
NG_008391.2:g.78C=
NG_033038.1:g.14572C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1844G= MANE Select ENSP00000349297.5:p.Arg615=
ENST00000322910.9:c.*1799G= ENSP00000325395.5:n.*1799G=
ENST00000350303.9:c.1778G= ENSP00000344152.5:p.Arg593=
ENST00000356839.9:c.1844G= ENSP00000349297.5:p.Arg615=
ENST00000542255.6:c.723G=
ENST00000543245.6:c.1913G= ENSP00000438689.2:p.Arg638=
ENST00000578033.1:n.269G=
ENST00000578319.5:n.425G=
ENST00000578711.1:n.1469G=
ENST00000578809.5:n.416G=
ENST00000579425.5:n.960G=
ENST00000579546.1:c.579G=
ENST00000583848.5:c.210G= ENSP00000466487.1:n.210G=
ENST00000583850.5:n.615G=
ENST00000583858.5:c.775G=
NM_000018.3:c.1844G= NP_000009.1:p.Arg615=
NM_001033859.2:c.1778G= NP_001029031.1:p.Arg593=
NM_001270447.1:c.1913G= NP_001257376.1:p.Arg638=
NM_001270448.1:c.1616G= NP_001257377.1:p.Arg539=
XM_006721516.2:c.1865G= XP_006721579.2:p.Arg622=
XM_011523829.1:c.1763G= XP_011522131.1:p.Arg588=
XM_011523830.1:c.1742G= XP_011522132.1:p.Arg581=
XR_934021.1:n.1947G=
XR_934022.1:n.1853G=
XR_934023.1:n.1874G=
XM_006721516.3:c.1865G= XP_006721579.2:p.Arg622=
XM_011523829.2:c.1763G= XP_011522131.1:p.Arg588=
XM_011523830.2:c.1742G= XP_011522132.1:p.Arg581=
XM_024450741.1:c.1832G= XP_024306509.1:p.Arg611=
XR_934021.2:n.1899G=
XR_934022.2:n.1805G=
XR_934023.2:n.1826G=
NM_000018.4:c.1844G= MANE Select NP_000009.1:p.Arg615=
NM_001033859.3:c.1778G= NP_001029031.1:p.Arg593=
NM_001270447.2:c.1913G= NP_001257376.1:p.Arg638=
NM_001270448.2:c.1616G= NP_001257377.1:p.Arg539=