Canonical Allele Identifier: CA2245700394
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221655G= , CM000679.2:g.7221655G= GRCh38
NC_000017.10:g.7124974G= , CM000679.1:g.7124974G= GRCh37
NC_000017.9:g.7065698G= NCBI36
NG_007975.1:g.6822G=
NG_008391.2:g.3396C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.595G= MANE Select ENSP00000349297.5:p.Glu199=
ENST00000322910.9:c.*550G= ENSP00000325395.5:n.*550G=
ENST00000350303.9:c.529G= ENSP00000344152.5:p.Glu177=
ENST00000356839.9:c.595G= ENSP00000349297.5:p.Glu199=
ENST00000543245.6:c.664G= ENSP00000438689.2:p.Glu222=
ENST00000577191.5:n.672G=
ENST00000577433.5:n.803G=
ENST00000577857.5:n.411G=
ENST00000579286.5:n.776G=
ENST00000579886.2:c.433G= ENSP00000463246.1:p.Glu145=
ENST00000580365.1:n.326G=
ENST00000581378.5:c.313G=
ENST00000581562.5:n.525-297G=
ENST00000583312.5:c.595G= ENSP00000467920.1:p.Glu199=
ENST00000583760.1:n.377G=
NM_000018.3:c.595G= NP_000009.1:p.Glu199=
NM_001033859.2:c.529G= NP_001029031.1:p.Glu177=
NM_001270447.1:c.664G= NP_001257376.1:p.Glu222=
NM_001270448.1:c.367G= NP_001257377.1:p.Glu123=
XM_006721516.2:c.595G= XP_006721579.2:p.Glu199=
XM_011523829.1:c.595G= XP_011522131.1:p.Glu199=
XM_011523830.1:c.595G= XP_011522132.1:p.Glu199=
XR_934021.1:n.702G=
XR_934022.1:n.702G=
XR_934023.1:n.702G=
XM_006721516.3:c.595G= XP_006721579.2:p.Glu199=
XM_011523829.2:c.595G= XP_011522131.1:p.Glu199=
XM_011523830.2:c.595G= XP_011522132.1:p.Glu199=
XM_024450741.1:c.595G= XP_024306509.1:p.Glu199=
XR_934021.2:n.654G=
XR_934022.2:n.654G=
XR_934023.2:n.654G=
NM_000018.4:c.595G= MANE Select NP_000009.1:p.Glu199=
NM_001033859.3:c.529G= NP_001029031.1:p.Glu177=
NM_001270447.2:c.664G= NP_001257376.1:p.Glu222=
NM_001270448.2:c.367G= NP_001257377.1:p.Glu123=