Canonical Allele Identifier: CA2245709780
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222825C= , CM000679.2:g.7222825C= GRCh38
NC_000017.10:g.7126144C= , CM000679.1:g.7126144C= GRCh37
NC_000017.9:g.7066868C= NCBI36
NG_007975.1:g.7992C=
NG_008391.2:g.2226G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1037C= MANE Select ENSP00000349297.5:p.Ala346=
ENST00000322910.9:c.*992C= ENSP00000325395.5:n.*992C=
ENST00000350303.9:c.971C= ENSP00000344152.5:p.Ala324=
ENST00000356839.9:c.1037C= ENSP00000349297.5:p.Ala346=
ENST00000543245.6:c.1106C= ENSP00000438689.2:p.Ala369=
ENST00000578824.5:n.186C=
ENST00000582379.1:n.421C=
ENST00000583858.5:c.66C=
NM_000018.3:c.1037C= NP_000009.1:p.Ala346=
NM_001033859.2:c.971C= NP_001029031.1:p.Ala324=
NM_001270447.1:c.1106C= NP_001257376.1:p.Ala369=
NM_001270448.1:c.809C= NP_001257377.1:p.Ala270=
XM_006721516.2:c.1037C= XP_006721579.2:p.Ala346=
XM_011523829.1:c.1037C= XP_011522131.1:p.Ala346=
XM_011523830.1:c.1037C= XP_011522132.1:p.Ala346=
XR_934021.1:n.1144C=
XR_934022.1:n.1144C=
XR_934023.1:n.1144C=
XM_006721516.3:c.1037C= XP_006721579.2:p.Ala346=
XM_011523829.2:c.1037C= XP_011522131.1:p.Ala346=
XM_011523830.2:c.1037C= XP_011522132.1:p.Ala346=
XM_024450741.1:c.1037C= XP_024306509.1:p.Ala346=
XR_934021.2:n.1096C=
XR_934022.2:n.1096C=
XR_934023.2:n.1096C=
NM_000018.4:c.1037C= MANE Select NP_000009.1:p.Ala346=
NM_001033859.3:c.971C= NP_001029031.1:p.Ala324=
NM_001270447.2:c.1106C= NP_001257376.1:p.Ala369=
NM_001270448.2:c.809C= NP_001257377.1:p.Ala270=