Canonical Allele Identifier: CA2245709247
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222685G= , CM000679.2:g.7222685G= GRCh38
NC_000017.10:g.7126004G= , CM000679.1:g.7126004G= GRCh37
NC_000017.9:g.7066728G= NCBI36
NG_007975.1:g.7852G=
NG_008391.2:g.2366C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.897G= MANE Select ENSP00000349297.5:p.Lys299=
ENST00000322910.9:c.*852G= ENSP00000325395.5:n.*852G=
ENST00000350303.9:c.831G= ENSP00000344152.5:p.Lys277=
ENST00000356839.9:c.897G= ENSP00000349297.5:p.Lys299=
ENST00000543245.6:c.966G= ENSP00000438689.2:p.Lys322=
ENST00000578824.5:n.46G=
ENST00000581378.5:c.615G=
ENST00000582379.1:n.281G=
NM_000018.3:c.897G= NP_000009.1:p.Lys299=
NM_001033859.2:c.831G= NP_001029031.1:p.Lys277=
NM_001270447.1:c.966G= NP_001257376.1:p.Lys322=
NM_001270448.1:c.669G= NP_001257377.1:p.Lys223=
XM_006721516.2:c.897G= XP_006721579.2:p.Lys299=
XM_011523829.1:c.897G= XP_011522131.1:p.Lys299=
XM_011523830.1:c.897G= XP_011522132.1:p.Lys299=
XR_934021.1:n.1004G=
XR_934022.1:n.1004G=
XR_934023.1:n.1004G=
XM_006721516.3:c.897G= XP_006721579.2:p.Lys299=
XM_011523829.2:c.897G= XP_011522131.1:p.Lys299=
XM_011523830.2:c.897G= XP_011522132.1:p.Lys299=
XM_024450741.1:c.897G= XP_024306509.1:p.Lys299=
XR_934021.2:n.956G=
XR_934022.2:n.956G=
XR_934023.2:n.956G=
NM_000018.4:c.897G= MANE Select NP_000009.1:p.Lys299=
NM_001033859.3:c.831G= NP_001029031.1:p.Lys277=
NM_001270447.2:c.966G= NP_001257376.1:p.Lys322=
NM_001270448.2:c.669G= NP_001257377.1:p.Lys223=