Canonical Allele Identifier: CA2245701457
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222252G= , CM000679.2:g.7222252G= GRCh38
NC_000017.10:g.7125571G= , CM000679.1:g.7125571G= GRCh37
NC_000017.9:g.7066295G= NCBI36
NG_007975.1:g.7419G=
NG_008391.2:g.2799C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.828G= MANE Select ENSP00000349297.5:p.Lys276=
ENST00000322910.9:c.*783G= ENSP00000325395.5:n.*783G=
ENST00000350303.9:c.762G= ENSP00000344152.5:p.Lys254=
ENST00000356839.9:c.828G= ENSP00000349297.5:p.Lys276=
ENST00000543245.6:c.897G= ENSP00000438689.2:p.Lys299=
ENST00000577191.5:n.1000G=
ENST00000581378.5:c.546G=
ENST00000582379.1:n.212G=
NM_000018.3:c.828G= NP_000009.1:p.Lys276=
NM_001033859.2:c.762G= NP_001029031.1:p.Lys254=
NM_001270447.1:c.897G= NP_001257376.1:p.Lys299=
NM_001270448.1:c.600G= NP_001257377.1:p.Lys200=
XM_006721516.2:c.828G= XP_006721579.2:p.Lys276=
XM_011523829.1:c.828G= XP_011522131.1:p.Lys276=
XM_011523830.1:c.828G= XP_011522132.1:p.Lys276=
XR_934021.1:n.935G=
XR_934022.1:n.935G=
XR_934023.1:n.935G=
XM_006721516.3:c.828G= XP_006721579.2:p.Lys276=
XM_011523829.2:c.828G= XP_011522131.1:p.Lys276=
XM_011523830.2:c.828G= XP_011522132.1:p.Lys276=
XM_024450741.1:c.828G= XP_024306509.1:p.Lys276=
XR_934021.2:n.887G=
XR_934022.2:n.887G=
XR_934023.2:n.887G=
NM_000018.4:c.828G= MANE Select NP_000009.1:p.Lys276=
NM_001033859.3:c.762G= NP_001029031.1:p.Lys254=
NM_001270447.2:c.897G= NP_001257376.1:p.Lys299=
NM_001270448.2:c.600G= NP_001257377.1:p.Lys200=