Canonical Allele Identifier: CA2245715041
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224646A= , CM000679.2:g.7224646A= GRCh38
NC_000017.10:g.7127965A= , CM000679.1:g.7127965A= GRCh37
NC_000017.9:g.7068689A= NCBI36
NG_007975.1:g.9813A=
NG_008391.2:g.405T=
NG_033038.1:g.14899T=

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1683A= MANE Select ENSP00000349297.5:p.Glu561=
ENST00000322910.9:c.*1638A= ENSP00000325395.5:n.*1638A=
ENST00000350303.9:c.1617A= ENSP00000344152.5:p.Glu539=
ENST00000356839.9:c.1683A= ENSP00000349297.5:p.Glu561=
ENST00000542255.6:c.537-69A=
ENST00000543245.6:c.1752A= ENSP00000438689.2:p.Glu584=
ENST00000578033.1:n.14A=
ENST00000578319.5:n.264A=
ENST00000578711.1:n.1142A=
ENST00000578809.5:n.255A=
ENST00000579425.5:n.799A=
ENST00000579546.1:c.418A=
ENST00000582450.1:n.280A=
ENST00000583074.5:n.300-69A=
ENST00000583848.5:c.65-16A= ENSP00000466487.1:n.65-16A=
ENST00000583850.5:n.454A=
ENST00000583858.5:c.614A=
ENST00000585203.6:n.874A=
NM_000018.3:c.1683A= NP_000009.1:p.Glu561=
NM_001033859.2:c.1617A= NP_001029031.1:p.Glu539=
NM_001270447.1:c.1752A= NP_001257376.1:p.Glu584=
NM_001270448.1:c.1455A= NP_001257377.1:p.Glu485=
XM_006721516.2:c.1679-69A= XP_006721579.2:n.1679-69A=
XM_011523829.1:c.1577-69A= XP_011522131.1:n.1577-69A=
XM_011523830.1:c.1581A= XP_011522132.1:p.Glu527=
XR_934021.1:n.1786A=
XR_934022.1:n.1692A=
XR_934023.1:n.1688-69A=
XM_006721516.3:c.1679-69A= XP_006721579.2:n.1679-69A=
XM_011523829.2:c.1577-69A= XP_011522131.1:n.1577-69A=
XM_011523830.2:c.1581A= XP_011522132.1:p.Glu527=
XM_024450741.1:c.1671A= XP_024306509.1:p.Glu557=
XR_934021.2:n.1738A=
XR_934022.2:n.1644A=
XR_934023.2:n.1640-69A=
NM_000018.4:c.1683A= MANE Select NP_000009.1:p.Glu561=
NM_001033859.3:c.1617A= NP_001029031.1:p.Glu539=
NM_001270447.2:c.1752A= NP_001257376.1:p.Glu584=
NM_001270448.2:c.1455A= NP_001257377.1:p.Glu485=