Canonical Allele Identifier: CA2245712041
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223855G= , CM000679.2:g.7223855G= GRCh38
NC_000017.10:g.7127174G= , CM000679.1:g.7127174G= GRCh37
NC_000017.9:g.7067898G= NCBI36
NG_007975.1:g.9022G=
NG_008391.2:g.1196C=
NG_033038.1:g.15690C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1312G= MANE Select ENSP00000349297.5:p.Gly438=
ENST00000322910.9:c.*1267G= ENSP00000325395.5:n.*1267G=
ENST00000350303.9:c.1246G= ENSP00000344152.5:p.Gly416=
ENST00000356839.9:c.1312G= ENSP00000349297.5:p.Gly438=
ENST00000542255.6:c.170G=
ENST00000543245.6:c.1381G= ENSP00000438689.2:p.Gly461=
ENST00000578711.1:n.351G=
ENST00000579425.5:n.336G=
ENST00000579546.1:c.149G=
ENST00000583074.5:n.31G=
ENST00000583850.5:n.87G=
ENST00000583858.5:c.341G=
ENST00000585203.6:n.520G=
NM_000018.3:c.1312G= NP_000009.1:p.Gly438=
NM_001033859.2:c.1246G= NP_001029031.1:p.Gly416=
NM_001270447.1:c.1381G= NP_001257376.1:p.Gly461=
NM_001270448.1:c.1084G= NP_001257377.1:p.Gly362=
XM_006721516.2:c.1312G= XP_006721579.2:p.Gly438=
XM_011523829.1:c.1312G= XP_011522131.1:p.Gly438=
XM_011523830.1:c.1312G= XP_011522132.1:p.Gly438=
XR_934021.1:n.1419G=
XR_934022.1:n.1419G=
XR_934023.1:n.1419G=
XM_006721516.3:c.1312G= XP_006721579.2:p.Gly438=
XM_011523829.2:c.1312G= XP_011522131.1:p.Gly438=
XM_011523830.2:c.1312G= XP_011522132.1:p.Gly438=
XM_024450741.1:c.1312G= XP_024306509.1:p.Gly438=
XR_934021.2:n.1371G=
XR_934022.2:n.1371G=
XR_934023.2:n.1371G=
NM_000018.4:c.1312G= MANE Select NP_000009.1:p.Gly438=
NM_001033859.3:c.1246G= NP_001029031.1:p.Gly416=
NM_001270447.2:c.1381G= NP_001257376.1:p.Gly461=
NM_001270448.2:c.1084G= NP_001257377.1:p.Gly362=