Canonical Allele Identifier: CA2245715824
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224879A= , CM000679.2:g.7224879A= GRCh38
NC_000017.10:g.7128198A= , CM000679.1:g.7128198A= GRCh37
NC_000017.9:g.7068922A= NCBI36
NG_007975.1:g.10046A=
NG_008391.2:g.172T=
NG_033038.1:g.14666T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1822A= MANE Select ENSP00000349297.5:p.Ile608=
ENST00000322910.9:c.*1777A= ENSP00000325395.5:n.*1777A=
ENST00000350303.9:c.1756A= ENSP00000344152.5:p.Ile586=
ENST00000356839.9:c.1822A= ENSP00000349297.5:p.Ile608=
ENST00000542255.6:c.701A=
ENST00000543245.6:c.1891A= ENSP00000438689.2:p.Ile631=
ENST00000578033.1:n.247A=
ENST00000578319.5:n.403A=
ENST00000578711.1:n.1375A=
ENST00000578809.5:n.394A=
ENST00000579425.5:n.938A=
ENST00000579546.1:c.557A=
ENST00000583848.5:c.188A= ENSP00000466487.1:n.188A=
ENST00000583850.5:n.593A=
ENST00000583858.5:c.753A=
NM_000018.3:c.1822A= NP_000009.1:p.Ile608=
NM_001033859.2:c.1756A= NP_001029031.1:p.Ile586=
NM_001270447.1:c.1891A= NP_001257376.1:p.Ile631=
NM_001270448.1:c.1594A= NP_001257377.1:p.Ile532=
XM_006721516.2:c.1843A= XP_006721579.2:p.Ile615=
XM_011523829.1:c.1741A= XP_011522131.1:p.Ile581=
XM_011523830.1:c.1720A= XP_011522132.1:p.Ile574=
XR_934021.1:n.1925A=
XR_934022.1:n.1831A=
XR_934023.1:n.1852A=
XM_006721516.3:c.1843A= XP_006721579.2:p.Ile615=
XM_011523829.2:c.1741A= XP_011522131.1:p.Ile581=
XM_011523830.2:c.1720A= XP_011522132.1:p.Ile574=
XM_024450741.1:c.1810A= XP_024306509.1:p.Ile604=
XR_934021.2:n.1877A=
XR_934022.2:n.1783A=
XR_934023.2:n.1804A=
NM_000018.4:c.1822A= MANE Select NP_000009.1:p.Ile608=
NM_001033859.3:c.1756A= NP_001029031.1:p.Ile586=
NM_001270447.2:c.1891A= NP_001257376.1:p.Ile631=
NM_001270448.2:c.1594A= NP_001257377.1:p.Ile532=