Canonical Allele Identifier: CA2245701385
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222231T= , CM000679.2:g.7222231T= GRCh38
NC_000017.10:g.7125550T= , CM000679.1:g.7125550T= GRCh37
NC_000017.9:g.7066274T= NCBI36
NG_007975.1:g.7398T=
NG_008391.2:g.2820A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.807T= MANE Select ENSP00000349297.5:p.Asp269=
ENST00000322910.9:c.*762T= ENSP00000325395.5:n.*762T=
ENST00000350303.9:c.741T= ENSP00000344152.5:p.Asp247=
ENST00000356839.9:c.807T= ENSP00000349297.5:p.Asp269=
ENST00000543245.6:c.876T= ENSP00000438689.2:p.Asp292=
ENST00000577191.5:n.979T=
ENST00000581378.5:c.525T=
ENST00000582379.1:n.191T=
NM_000018.3:c.807T= NP_000009.1:p.Asp269=
NM_001033859.2:c.741T= NP_001029031.1:p.Asp247=
NM_001270447.1:c.876T= NP_001257376.1:p.Asp292=
NM_001270448.1:c.579T= NP_001257377.1:p.Asp193=
XM_006721516.2:c.807T= XP_006721579.2:p.Asp269=
XM_011523829.1:c.807T= XP_011522131.1:p.Asp269=
XM_011523830.1:c.807T= XP_011522132.1:p.Asp269=
XR_934021.1:n.914T=
XR_934022.1:n.914T=
XR_934023.1:n.914T=
XM_006721516.3:c.807T= XP_006721579.2:p.Asp269=
XM_011523829.2:c.807T= XP_011522131.1:p.Asp269=
XM_011523830.2:c.807T= XP_011522132.1:p.Asp269=
XM_024450741.1:c.807T= XP_024306509.1:p.Asp269=
XR_934021.2:n.866T=
XR_934022.2:n.866T=
XR_934023.2:n.866T=
NM_000018.4:c.807T= MANE Select NP_000009.1:p.Asp269=
NM_001033859.3:c.741T= NP_001029031.1:p.Asp247=
NM_001270447.2:c.876T= NP_001257376.1:p.Asp292=
NM_001270448.2:c.579T= NP_001257377.1:p.Asp193=