Canonical Allele Identifier: CA2245712399
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223968G= , CM000679.2:g.7223968G= GRCh38
NC_000017.10:g.7127287G= , CM000679.1:g.7127287G= GRCh37
NC_000017.9:g.7068011G= NCBI36
NG_007975.1:g.9135G=
NG_008391.2:g.1083C=
NG_033038.1:g.15577C=

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1333G= MANE Select ENSP00000349297.5:p.Glu445=
ENST00000322910.9:c.*1288G= ENSP00000325395.5:n.*1288G=
ENST00000350303.9:c.1267G= ENSP00000344152.5:p.Glu423=
ENST00000356839.9:c.1333G= ENSP00000349297.5:p.Glu445=
ENST00000542255.6:c.191G=
ENST00000543245.6:c.1402G= ENSP00000438689.2:p.Glu468=
ENST00000578711.1:n.464G=
ENST00000579425.5:n.449G=
ENST00000579546.1:c.170G=
ENST00000579894.5:n.44G=
ENST00000583074.5:n.52G=
ENST00000583850.5:n.108G=
ENST00000583858.5:c.362G=
ENST00000585203.6:n.524G=
NM_000018.3:c.1333G= NP_000009.1:p.Glu445=
NM_001033859.2:c.1267G= NP_001029031.1:p.Glu423=
NM_001270447.1:c.1402G= NP_001257376.1:p.Glu468=
NM_001270448.1:c.1105G= NP_001257377.1:p.Glu369=
XM_006721516.2:c.1333G= XP_006721579.2:p.Glu445=
XM_011523829.1:c.1333G= XP_011522131.1:p.Glu445=
XM_011523830.1:c.1333G= XP_011522132.1:p.Glu445=
XR_934021.1:n.1440G=
XR_934022.1:n.1440G=
XR_934023.1:n.1440G=
XM_006721516.3:c.1333G= XP_006721579.2:p.Glu445=
XM_011523829.2:c.1333G= XP_011522131.1:p.Glu445=
XM_011523830.2:c.1333G= XP_011522132.1:p.Glu445=
XM_024450741.1:c.1333G= XP_024306509.1:p.Glu445=
XR_934021.2:n.1392G=
XR_934022.2:n.1392G=
XR_934023.2:n.1392G=
NM_000018.4:c.1333G= MANE Select NP_000009.1:p.Glu445=
NM_001033859.3:c.1267G= NP_001029031.1:p.Glu423=
NM_001270447.2:c.1402G= NP_001257376.1:p.Glu468=
NM_001270448.2:c.1105G= NP_001257377.1:p.Glu369=