Canonical Allele Identifier: CA2733031492

Gene: ACADVL

Linked Data

• dbSNP Id: rs2142991330

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225132C>A , CM000679.2:g.7225132C>A	GRCh38
NC_000017.10:g.7128451C>A , CM000679.1:g.7128451C>A	GRCh37
NC_000017.9:g.7069175C>A	NCBI36
NG_007975.1:g.10299C>A
NG_033038.1:g.14413G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.*35C>A MANE Select	ENSP00000349297.5:n.*35C>A
ENST00000322910.9:c.*1958C>A	ENSP00000325395.5:n.*1958C>A
ENST00000350303.9:c.*35C>A	ENSP00000344152.5:n.*35C>A
ENST00000356839.9:c.*35C>A	ENSP00000349297.5:n.*35C>A
ENST00000542255.6:c.882C>A
ENST00000543245.6:c.*35C>A	ENSP00000438689.2:n.*35C>A
ENST00000578033.1:n.428C>A
ENST00000578319.5:n.584C>A
ENST00000578711.1:n.1628C>A
ENST00000578809.5:n.575C>A
ENST00000579425.5:n.1119C>A
ENST00000583848.5:c.369C>A	ENSP00000466487.1:n.369C>A
ENST00000583850.5:n.774C>A
ENST00000583858.5:c.934C>A
NM_000018.3:c.*35C>A	NP_000009.1:n.*35C>A
NM_001033859.2:c.*35C>A	NP_001029031.1:n.*35C>A
NM_001270447.1:c.*35C>A	NP_001257376.1:n.*35C>A
NM_001270448.1:c.*35C>A	NP_001257377.1:n.*35C>A
XM_006721516.2:c.*35C>A	XP_006721579.2:n.*35C>A
XM_011523829.1:c.*35C>A	XP_011522131.1:n.*35C>A
XM_011523830.1:c.*35C>A	XP_011522132.1:n.*35C>A
XR_934021.1:n.2106C>A
XR_934022.1:n.2012C>A
XR_934023.1:n.2033C>A
XM_006721516.3:c.*35C>A	XP_006721579.2:n.*35C>A
XM_011523829.2:c.*35C>A	XP_011522131.1:n.*35C>A
XM_011523830.2:c.*35C>A	XP_011522132.1:n.*35C>A
XM_024450741.1:c.*35C>A	XP_024306509.1:n.*35C>A
XR_934021.2:n.2058C>A
XR_934022.2:n.1964C>A
XR_934023.2:n.1985C>A
NM_000018.4:c.*35C>A MANE Select	NP_000009.1:n.*35C>A
NM_001033859.3:c.*35C>A	NP_001029031.1:n.*35C>A
NM_001270447.2:c.*35C>A	NP_001257376.1:n.*35C>A
NM_001270448.2:c.*35C>A	NP_001257377.1:n.*35C>A