Canonical Allele Identifier: CA2245716681

Gene: ACADVL

Linked Data

• dbSNP Id: rs2071417348

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225109C>T , CM000679.2:g.7225109C>T	GRCh38
NC_000017.10:g.7128428C>T , CM000679.1:g.7128428C>T	GRCh37
NC_000017.9:g.7069152C>T	NCBI36
NG_007975.1:g.10276C>T
NG_033038.1:g.14436G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.*12C>T MANE Select	ENSP00000349297.5:n.*12C>T
ENST00000322910.9:c.*1935C>T	ENSP00000325395.5:n.*1935C>T
ENST00000350303.9:c.*12C>T	ENSP00000344152.5:n.*12C>T
ENST00000356839.9:c.*12C>T	ENSP00000349297.5:n.*12C>T
ENST00000542255.6:c.859C>T
ENST00000543245.6:c.*12C>T	ENSP00000438689.2:n.*12C>T
ENST00000578033.1:n.405C>T
ENST00000578319.5:n.561C>T
ENST00000578711.1:n.1605C>T
ENST00000578809.5:n.552C>T
ENST00000579425.5:n.1096C>T
ENST00000583848.5:c.346C>T	ENSP00000466487.1:n.346C>T
ENST00000583850.5:n.751C>T
ENST00000583858.5:c.911C>T
NM_000018.3:c.*12C>T	NP_000009.1:n.*12C>T
NM_001033859.2:c.*12C>T	NP_001029031.1:n.*12C>T
NM_001270447.1:c.*12C>T	NP_001257376.1:n.*12C>T
NM_001270448.1:c.*12C>T	NP_001257377.1:n.*12C>T
XM_006721516.2:c.*12C>T	XP_006721579.2:n.*12C>T
XM_011523829.1:c.*12C>T	XP_011522131.1:n.*12C>T
XM_011523830.1:c.*12C>T	XP_011522132.1:n.*12C>T
XR_934021.1:n.2083C>T
XR_934022.1:n.1989C>T
XR_934023.1:n.2010C>T
XM_006721516.3:c.*12C>T	XP_006721579.2:n.*12C>T
XM_011523829.2:c.*12C>T	XP_011522131.1:n.*12C>T
XM_011523830.2:c.*12C>T	XP_011522132.1:n.*12C>T
XM_024450741.1:c.*12C>T	XP_024306509.1:n.*12C>T
XR_934021.2:n.2035C>T
XR_934022.2:n.1941C>T
XR_934023.2:n.1962C>T
NM_000018.4:c.*12C>T MANE Select	NP_000009.1:n.*12C>T
NM_001033859.3:c.*12C>T	NP_001029031.1:n.*12C>T
NM_001270447.2:c.*12C>T	NP_001257376.1:n.*12C>T
NM_001270448.2:c.*12C>T	NP_001257377.1:n.*12C>T