Canonical Allele Identifier: CA2245713789
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224330G= , CM000679.2:g.7224330G= GRCh38
NC_000017.10:g.7127649G= , CM000679.1:g.7127649G= GRCh37
NC_000017.9:g.7068373G= NCBI36
NG_007975.1:g.9497G=
NG_008391.2:g.721C=
NG_033038.1:g.15215C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1542G= MANE Select ENSP00000349297.5:p.Gly514=
ENST00000322910.9:c.*1497G= ENSP00000325395.5:n.*1497G=
ENST00000350303.9:c.1476G= ENSP00000344152.5:p.Gly492=
ENST00000356839.9:c.1542G= ENSP00000349297.5:p.Gly514=
ENST00000542255.6:c.400G=
ENST00000543245.6:c.1611G= ENSP00000438689.2:p.Gly537=
ENST00000578319.5:n.37G=
ENST00000578711.1:n.826G=
ENST00000578809.5:n.114G=
ENST00000579391.1:n.150G=
ENST00000579425.5:n.658G=
ENST00000579546.1:c.281G=
ENST00000579894.5:n.329G=
ENST00000582450.1:n.50G=
ENST00000583074.5:n.163G=
ENST00000583850.5:n.317G=
ENST00000583858.5:c.473G=
ENST00000585203.6:n.733G=
NM_000018.3:c.1542G= NP_000009.1:p.Gly514=
NM_001033859.2:c.1476G= NP_001029031.1:p.Gly492=
NM_001270447.1:c.1611G= NP_001257376.1:p.Gly537=
NM_001270448.1:c.1314G= NP_001257377.1:p.Gly438=
XM_006721516.2:c.1542G= XP_006721579.2:p.Gly514=
XM_011523829.1:c.1444G= XP_011522131.1:p.Ala482=
XM_011523830.1:c.1444G= XP_011522132.1:p.Ala482=
XR_934021.1:n.1649G=
XR_934022.1:n.1551G=
XR_934023.1:n.1551G=
XM_006721516.3:c.1542G= XP_006721579.2:p.Gly514=
XM_011523829.2:c.1444G= XP_011522131.1:p.Ala482=
XM_011523830.2:c.1444G= XP_011522132.1:p.Ala482=
XM_024450741.1:c.1444G= XP_024306509.1:p.Ala482=
XR_934021.2:n.1601G=
XR_934022.2:n.1503G=
XR_934023.2:n.1503G=
NM_000018.4:c.1542G= MANE Select NP_000009.1:p.Gly514=
NM_001033859.3:c.1476G= NP_001029031.1:p.Gly492=
NM_001270447.2:c.1611G= NP_001257376.1:p.Gly537=
NM_001270448.2:c.1314G= NP_001257377.1:p.Gly438=