Canonical Allele Identifier: CA2245714302
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224466C= , CM000679.2:g.7224466C= GRCh38
NC_000017.10:g.7127785C= , CM000679.1:g.7127785C= GRCh37
NC_000017.9:g.7068509C= NCBI36
NG_007975.1:g.9633C=
NG_008391.2:g.585G=
NG_033038.1:g.15079G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1606-14C= MANE Select ENSP00000349297.5:n.1606-14C=
ENST00000322910.9:c.*1561-14C= ENSP00000325395.5:n.*1561-14C=
ENST00000350303.9:c.1540-14C= ENSP00000344152.5:n.1540-14C=
ENST00000356839.9:c.1606-14C= ENSP00000349297.5:n.1606-14C=
ENST00000542255.6:c.464-14C=
ENST00000543245.6:c.1675-14C= ENSP00000438689.2:n.1675-14C=
ENST00000578319.5:n.173C=
ENST00000578711.1:n.962C=
ENST00000578809.5:n.178-14C=
ENST00000579391.1:n.214-18C=
ENST00000579425.5:n.722-14C=
ENST00000579546.1:c.345-18C=
ENST00000579894.5:n.393-14C=
ENST00000582450.1:n.114-14C=
ENST00000583074.5:n.227-14C=
ENST00000583850.5:n.381-18C=
ENST00000583858.5:c.537-14C=
ENST00000585203.6:n.797-14C=
NM_000018.3:c.1606-14C= NP_000009.1:n.1606-14C=
NM_001033859.2:c.1540-14C= NP_001029031.1:n.1540-14C=
NM_001270447.1:c.1675-14C= NP_001257376.1:n.1675-14C=
NM_001270448.1:c.1378-14C= NP_001257377.1:n.1378-14C=
XM_006721516.2:c.1606-14C= XP_006721579.2:n.1606-14C=
XM_011523829.1:c.1508-18C= XP_011522131.1:n.1508-18C=
XM_011523830.1:c.1508-18C= XP_011522132.1:n.1508-18C=
XR_934021.1:n.1713-18C=
XR_934022.1:n.1615-14C=
XR_934023.1:n.1615-14C=
XM_006721516.3:c.1606-14C= XP_006721579.2:n.1606-14C=
XM_011523829.2:c.1508-18C= XP_011522131.1:n.1508-18C=
XM_011523830.2:c.1508-18C= XP_011522132.1:n.1508-18C=
XM_024450741.1:c.1580C= XP_024306509.1:p.Ser527=
XR_934021.2:n.1665-18C=
XR_934022.2:n.1567-14C=
XR_934023.2:n.1567-14C=
NM_000018.4:c.1606-14C= MANE Select NP_000009.1:n.1606-14C=
NM_001033859.3:c.1540-14C= NP_001029031.1:n.1540-14C=
NM_001270447.2:c.1675-14C= NP_001257376.1:n.1675-14C=
NM_001270448.2:c.1378-14C= NP_001257377.1:n.1378-14C=