Canonical Allele Identifier: CA2245714268
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224457C= , CM000679.2:g.7224457C= GRCh38
NC_000017.10:g.7127776C= , CM000679.1:g.7127776C= GRCh37
NC_000017.9:g.7068500C= NCBI36
NG_007975.1:g.9624C=
NG_008391.2:g.594G=
NG_033038.1:g.15088G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1606-23C= MANE Select ENSP00000349297.5:n.1606-23C=
ENST00000322910.9:c.*1561-23C= ENSP00000325395.5:n.*1561-23C=
ENST00000350303.9:c.1540-23C= ENSP00000344152.5:n.1540-23C=
ENST00000356839.9:c.1606-23C= ENSP00000349297.5:n.1606-23C=
ENST00000542255.6:c.464-23C=
ENST00000543245.6:c.1675-23C= ENSP00000438689.2:n.1675-23C=
ENST00000578319.5:n.164C=
ENST00000578711.1:n.953C=
ENST00000578809.5:n.178-23C=
ENST00000579391.1:n.214-27C=
ENST00000579425.5:n.722-23C=
ENST00000579546.1:c.345-27C=
ENST00000579894.5:n.393-23C=
ENST00000582450.1:n.114-23C=
ENST00000583074.5:n.227-23C=
ENST00000583850.5:n.381-27C=
ENST00000583858.5:c.537-23C=
ENST00000585203.6:n.797-23C=
NM_000018.3:c.1606-23C= NP_000009.1:n.1606-23C=
NM_001033859.2:c.1540-23C= NP_001029031.1:n.1540-23C=
NM_001270447.1:c.1675-23C= NP_001257376.1:n.1675-23C=
NM_001270448.1:c.1378-23C= NP_001257377.1:n.1378-23C=
XM_006721516.2:c.1606-23C= XP_006721579.2:n.1606-23C=
XM_011523829.1:c.1508-27C= XP_011522131.1:n.1508-27C=
XM_011523830.1:c.1508-27C= XP_011522132.1:n.1508-27C=
XR_934021.1:n.1713-27C=
XR_934022.1:n.1615-23C=
XR_934023.1:n.1615-23C=
XM_006721516.3:c.1606-23C= XP_006721579.2:n.1606-23C=
XM_011523829.2:c.1508-27C= XP_011522131.1:n.1508-27C=
XM_011523830.2:c.1508-27C= XP_011522132.1:n.1508-27C=
XM_024450741.1:c.1571C= XP_024306509.1:p.Pro524=
XR_934021.2:n.1665-27C=
XR_934022.2:n.1567-23C=
XR_934023.2:n.1567-23C=
NM_000018.4:c.1606-23C= MANE Select NP_000009.1:n.1606-23C=
NM_001033859.3:c.1540-23C= NP_001029031.1:n.1540-23C=
NM_001270447.2:c.1675-23C= NP_001257376.1:n.1675-23C=
NM_001270448.2:c.1378-23C= NP_001257377.1:n.1378-23C=