Canonical Allele Identifier: CA2245700069
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221556A= , CM000679.2:g.7221556A= GRCh38
NC_000017.10:g.7124875A= , CM000679.1:g.7124875A= GRCh37
NC_000017.9:g.7065599A= NCBI36
NG_007975.1:g.6723A=
NG_008391.2:g.3495T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.496A= MANE Select ENSP00000349297.5:p.Ile166=
ENST00000322910.9:c.*451A= ENSP00000325395.5:n.*451A=
ENST00000350303.9:c.430A= ENSP00000344152.5:p.Ile144=
ENST00000356839.9:c.496A= ENSP00000349297.5:p.Ile166=
ENST00000543245.6:c.565A= ENSP00000438689.2:p.Ile189=
ENST00000577191.5:n.573A=
ENST00000577433.5:n.704A=
ENST00000577857.5:n.312A=
ENST00000579286.5:n.677A=
ENST00000579886.2:c.334A= ENSP00000463246.1:p.Ile112=
ENST00000580365.1:n.227A=
ENST00000581378.5:c.214A=
ENST00000581562.5:n.525-396A=
ENST00000582166.1:n.477A=
ENST00000583312.5:c.496A= ENSP00000467920.1:p.Ile166=
ENST00000583760.1:n.278A=
NM_000018.3:c.496A= NP_000009.1:p.Ile166=
NM_001033859.2:c.430A= NP_001029031.1:p.Ile144=
NM_001270447.1:c.565A= NP_001257376.1:p.Ile189=
NM_001270448.1:c.268A= NP_001257377.1:p.Ile90=
XM_006721516.2:c.496A= XP_006721579.2:p.Ile166=
XM_011523829.1:c.496A= XP_011522131.1:p.Ile166=
XM_011523830.1:c.496A= XP_011522132.1:p.Ile166=
XR_934021.1:n.603A=
XR_934022.1:n.603A=
XR_934023.1:n.603A=
XM_006721516.3:c.496A= XP_006721579.2:p.Ile166=
XM_011523829.2:c.496A= XP_011522131.1:p.Ile166=
XM_011523830.2:c.496A= XP_011522132.1:p.Ile166=
XM_024450741.1:c.496A= XP_024306509.1:p.Ile166=
XR_934021.2:n.555A=
XR_934022.2:n.555A=
XR_934023.2:n.555A=
NM_000018.4:c.496A= MANE Select NP_000009.1:p.Ile166=
NM_001033859.3:c.430A= NP_001029031.1:p.Ile144=
NM_001270447.2:c.565A= NP_001257376.1:p.Ile189=
NM_001270448.2:c.268A= NP_001257377.1:p.Ile90=