Canonical Allele Identifier: CA2245701066
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222070G= , CM000679.2:g.7222070G= GRCh38
NC_000017.10:g.7125389G= , CM000679.1:g.7125389G= GRCh37
NC_000017.9:g.7066113G= NCBI36
NG_007975.1:g.7237G=
NG_008391.2:g.2981C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.741G= MANE Select ENSP00000349297.5:p.Lys247=
ENST00000322910.9:c.*696G= ENSP00000325395.5:n.*696G=
ENST00000350303.9:c.675G= ENSP00000344152.5:p.Lys225=
ENST00000356839.9:c.741G= ENSP00000349297.5:p.Lys247=
ENST00000543245.6:c.810G= ENSP00000438689.2:p.Lys270=
ENST00000577191.5:n.818G=
ENST00000577857.5:n.557G=
ENST00000579286.5:n.922G=
ENST00000580365.1:n.472G=
ENST00000581378.5:c.459G=
ENST00000582379.1:n.125G=
ENST00000583760.1:n.523G=
NM_000018.3:c.741G= NP_000009.1:p.Lys247=
NM_001033859.2:c.675G= NP_001029031.1:p.Lys225=
NM_001270447.1:c.810G= NP_001257376.1:p.Lys270=
NM_001270448.1:c.513G= NP_001257377.1:p.Lys171=
XM_006721516.2:c.741G= XP_006721579.2:p.Lys247=
XM_011523829.1:c.741G= XP_011522131.1:p.Lys247=
XM_011523830.1:c.741G= XP_011522132.1:p.Lys247=
XR_934021.1:n.848G=
XR_934022.1:n.848G=
XR_934023.1:n.848G=
XM_006721516.3:c.741G= XP_006721579.2:p.Lys247=
XM_011523829.2:c.741G= XP_011522131.1:p.Lys247=
XM_011523830.2:c.741G= XP_011522132.1:p.Lys247=
XM_024450741.1:c.741G= XP_024306509.1:p.Lys247=
XR_934021.2:n.800G=
XR_934022.2:n.800G=
XR_934023.2:n.800G=
NM_000018.4:c.741G= MANE Select NP_000009.1:p.Lys247=
NM_001033859.3:c.675G= NP_001029031.1:p.Lys225=
NM_001270447.2:c.810G= NP_001257376.1:p.Lys270=
NM_001270448.2:c.513G= NP_001257377.1:p.Lys171=