Canonical Allele Identifier: CA2245714312
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224470A= , CM000679.2:g.7224470A= GRCh38
NC_000017.10:g.7127789A= , CM000679.1:g.7127789A= GRCh37
NC_000017.9:g.7068513A= NCBI36
NG_007975.1:g.9637A=
NG_008391.2:g.581T=
NG_033038.1:g.15075T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1606-10A= MANE Select ENSP00000349297.5:n.1606-10A=
ENST00000322910.9:c.*1561-10A= ENSP00000325395.5:n.*1561-10A=
ENST00000350303.9:c.1540-10A= ENSP00000344152.5:n.1540-10A=
ENST00000356839.9:c.1606-10A= ENSP00000349297.5:n.1606-10A=
ENST00000542255.6:c.464-10A=
ENST00000543245.6:c.1675-10A= ENSP00000438689.2:n.1675-10A=
ENST00000578319.5:n.177A=
ENST00000578711.1:n.966A=
ENST00000578809.5:n.178-10A=
ENST00000579391.1:n.214-14A=
ENST00000579425.5:n.722-10A=
ENST00000579546.1:c.345-14A=
ENST00000579894.5:n.393-10A=
ENST00000582450.1:n.114-10A=
ENST00000583074.5:n.227-10A=
ENST00000583850.5:n.381-14A=
ENST00000583858.5:c.537-10A=
ENST00000585203.6:n.797-10A=
NM_000018.3:c.1606-10A= NP_000009.1:n.1606-10A=
NM_001033859.2:c.1540-10A= NP_001029031.1:n.1540-10A=
NM_001270447.1:c.1675-10A= NP_001257376.1:n.1675-10A=
NM_001270448.1:c.1378-10A= NP_001257377.1:n.1378-10A=
XM_006721516.2:c.1606-10A= XP_006721579.2:n.1606-10A=
XM_011523829.1:c.1508-14A= XP_011522131.1:n.1508-14A=
XM_011523830.1:c.1508-14A= XP_011522132.1:n.1508-14A=
XR_934021.1:n.1713-14A=
XR_934022.1:n.1615-10A=
XR_934023.1:n.1615-10A=
XM_006721516.3:c.1606-10A= XP_006721579.2:n.1606-10A=
XM_011523829.2:c.1508-14A= XP_011522131.1:n.1508-14A=
XM_011523830.2:c.1508-14A= XP_011522132.1:n.1508-14A=
XM_024450741.1:c.1584A= XP_024306509.1:p.Pro528=
XR_934021.2:n.1665-14A=
XR_934022.2:n.1567-10A=
XR_934023.2:n.1567-10A=
NM_000018.4:c.1606-10A= MANE Select NP_000009.1:n.1606-10A=
NM_001033859.3:c.1540-10A= NP_001029031.1:n.1540-10A=
NM_001270447.2:c.1675-10A= NP_001257376.1:n.1675-10A=
NM_001270448.2:c.1378-10A= NP_001257377.1:n.1378-10A=