Canonical Allele Identifier: CA2245699042
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7220813G= , CM000679.2:g.7220813G= GRCh38
NC_000017.10:g.7124132G= , CM000679.1:g.7124132G= GRCh37
NC_000017.9:g.7064856G= NCBI36
NG_007975.1:g.5980G=
NG_008391.2:g.4238C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.325G= MANE Select ENSP00000349297.5:p.Val109=
ENST00000322910.9:c.*280G= ENSP00000325395.5:n.*280G=
ENST00000350303.9:c.259G= ENSP00000344152.5:p.Val87=
ENST00000356839.9:c.325G= ENSP00000349297.5:p.Val109=
ENST00000543245.6:c.394G= ENSP00000438689.2:p.Val132=
ENST00000577191.5:n.402G=
ENST00000577433.5:n.533G=
ENST00000577857.5:n.276G=
ENST00000579286.5:n.506G=
ENST00000579886.2:c.202-132G= ENSP00000463246.1:n.202-132G=
ENST00000580365.1:n.56G=
ENST00000581378.5:c.24G=
ENST00000581562.5:n.372G=
ENST00000582056.5:n.415G=
ENST00000582166.1:n.213G=
ENST00000582356.5:n.524G=
ENST00000583312.5:c.325G= ENSP00000467920.1:p.Val109=
ENST00000584103.5:c.325G= ENSP00000465353.1:p.Val109=
NM_000018.3:c.325G= NP_000009.1:p.Val109=
NM_001033859.2:c.259G= NP_001029031.1:p.Val87=
NM_001270447.1:c.394G= NP_001257376.1:p.Val132=
NM_001270448.1:c.97G= NP_001257377.1:p.Val33=
XM_006721516.2:c.325G= XP_006721579.2:p.Val109=
XM_011523829.1:c.325G= XP_011522131.1:p.Val109=
XM_011523830.1:c.325G= XP_011522132.1:p.Val109=
XR_934021.1:n.432G=
XR_934022.1:n.432G=
XR_934023.1:n.432G=
XM_006721516.3:c.325G= XP_006721579.2:p.Val109=
XM_011523829.2:c.325G= XP_011522131.1:p.Val109=
XM_011523830.2:c.325G= XP_011522132.1:p.Val109=
XM_024450741.1:c.325G= XP_024306509.1:p.Val109=
XR_934021.2:n.384G=
XR_934022.2:n.384G=
XR_934023.2:n.384G=
NM_000018.4:c.325G= MANE Select NP_000009.1:p.Val109=
NM_001033859.3:c.259G= NP_001029031.1:p.Val87=
NM_001270447.2:c.394G= NP_001257376.1:p.Val132=
NM_001270448.2:c.97G= NP_001257377.1:p.Val33=