Canonical Allele Identifier: CA2245709376
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222721C= , CM000679.2:g.7222721C= GRCh38
NC_000017.10:g.7126040C= , CM000679.1:g.7126040C= GRCh37
NC_000017.9:g.7066764C= NCBI36
NG_007975.1:g.7888C=
NG_008391.2:g.2330G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.933C= MANE Select ENSP00000349297.5:p.Phe311=
ENST00000322910.9:c.*888C= ENSP00000325395.5:n.*888C=
ENST00000350303.9:c.867C= ENSP00000344152.5:p.Phe289=
ENST00000356839.9:c.933C= ENSP00000349297.5:p.Phe311=
ENST00000543245.6:c.1002C= ENSP00000438689.2:p.Phe334=
ENST00000578824.5:n.82C=
ENST00000581378.5:c.651C=
ENST00000582379.1:n.317C=
NM_000018.3:c.933C= NP_000009.1:p.Phe311=
NM_001033859.2:c.867C= NP_001029031.1:p.Phe289=
NM_001270447.1:c.1002C= NP_001257376.1:p.Phe334=
NM_001270448.1:c.705C= NP_001257377.1:p.Phe235=
XM_006721516.2:c.933C= XP_006721579.2:p.Phe311=
XM_011523829.1:c.933C= XP_011522131.1:p.Phe311=
XM_011523830.1:c.933C= XP_011522132.1:p.Phe311=
XR_934021.1:n.1040C=
XR_934022.1:n.1040C=
XR_934023.1:n.1040C=
XM_006721516.3:c.933C= XP_006721579.2:p.Phe311=
XM_011523829.2:c.933C= XP_011522131.1:p.Phe311=
XM_011523830.2:c.933C= XP_011522132.1:p.Phe311=
XM_024450741.1:c.933C= XP_024306509.1:p.Phe311=
XR_934021.2:n.992C=
XR_934022.2:n.992C=
XR_934023.2:n.992C=
NM_000018.4:c.933C= MANE Select NP_000009.1:p.Phe311=
NM_001033859.3:c.867C= NP_001029031.1:p.Phe289=
NM_001270447.2:c.1002C= NP_001257376.1:p.Phe334=
NM_001270448.2:c.705C= NP_001257377.1:p.Phe235=