Canonical Allele Identifier: CA2808367688

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225110A>G , CM000679.2:g.7225110A>G	GRCh38
NC_000017.10:g.7128429A>G , CM000679.1:g.7128429A>G	GRCh37
NC_000017.9:g.7069153A>G	NCBI36
NG_007975.1:g.10277A>G
NG_033038.1:g.14435T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.*13A>G MANE Select	ENSP00000349297.5:n.*13A>G
ENST00000322910.9:c.*1936A>G	ENSP00000325395.5:n.*1936A>G
ENST00000350303.9:c.*13A>G	ENSP00000344152.5:n.*13A>G
ENST00000356839.9:c.*13A>G	ENSP00000349297.5:n.*13A>G
ENST00000542255.6:c.860A>G
ENST00000543245.6:c.*13A>G	ENSP00000438689.2:n.*13A>G
ENST00000578033.1:n.406A>G
ENST00000578319.5:n.562A>G
ENST00000578711.1:n.1606A>G
ENST00000578809.5:n.553A>G
ENST00000579425.5:n.1097A>G
ENST00000583848.5:c.347A>G	ENSP00000466487.1:n.347A>G
ENST00000583850.5:n.752A>G
ENST00000583858.5:c.912A>G
NM_000018.3:c.*13A>G	NP_000009.1:n.*13A>G
NM_001033859.2:c.*13A>G	NP_001029031.1:n.*13A>G
NM_001270447.1:c.*13A>G	NP_001257376.1:n.*13A>G
NM_001270448.1:c.*13A>G	NP_001257377.1:n.*13A>G
XM_006721516.2:c.*13A>G	XP_006721579.2:n.*13A>G
XM_011523829.1:c.*13A>G	XP_011522131.1:n.*13A>G
XM_011523830.1:c.*13A>G	XP_011522132.1:n.*13A>G
XR_934021.1:n.2084A>G
XR_934022.1:n.1990A>G
XR_934023.1:n.2011A>G
XM_006721516.3:c.*13A>G	XP_006721579.2:n.*13A>G
XM_011523829.2:c.*13A>G	XP_011522131.1:n.*13A>G
XM_011523830.2:c.*13A>G	XP_011522132.1:n.*13A>G
XM_024450741.1:c.*13A>G	XP_024306509.1:n.*13A>G
XR_934021.2:n.2036A>G
XR_934022.2:n.1942A>G
XR_934023.2:n.1963A>G
NM_000018.4:c.*13A>G MANE Select	NP_000009.1:n.*13A>G
NM_001033859.3:c.*13A>G	NP_001029031.1:n.*13A>G
NM_001270447.2:c.*13A>G	NP_001257376.1:n.*13A>G
NM_001270448.2:c.*13A>G	NP_001257377.1:n.*13A>G