Canonical Allele Identifier: CA240222

Gene: ACADVL

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224001C>T , CM000679.2:g.7224001C>T	GRCh38
NC_000017.10:g.7127320C>T , CM000679.1:g.7127320C>T	GRCh37
NC_000017.9:g.7068044C>T	NCBI36
NG_007975.1:g.9168C>T
NG_008391.2:g.1050G>A
NG_033038.1:g.15544G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1366C>T MANE Select	ENSP00000349297.5:p.Arg456Cys
ENST00000322910.9:c.*1321C>T	ENSP00000325395.5:n.*1321C>T
ENST00000350303.9:c.1300C>T	ENSP00000344152.5:p.Arg434Cys
ENST00000356839.9:c.1366C>T	ENSP00000349297.5:p.Arg456Cys
ENST00000542255.6:c.224C>T
ENST00000543245.6:c.1435C>T	ENSP00000438689.2:p.Arg479Cys
ENST00000578711.1:n.497C>T
ENST00000579425.5:n.482C>T
ENST00000579546.1:c.203C>T
ENST00000579894.5:n.77C>T
ENST00000583074.5:n.85C>T
ENST00000583850.5:n.141C>T
ENST00000583858.5:c.395C>T
ENST00000585203.6:n.557C>T
NM_000018.3:c.1366C>T	NP_000009.1:p.Arg456Cys
NM_001033859.2:c.1300C>T	NP_001029031.1:p.Arg434Cys
NM_001270447.1:c.1435C>T	NP_001257376.1:p.Arg479Cys
NM_001270448.1:c.1138C>T	NP_001257377.1:p.Arg380Cys
XM_006721516.2:c.1366C>T	XP_006721579.2:p.Arg456Cys
XM_011523829.1:c.1366C>T	XP_011522131.1:p.Arg456Cys
XM_011523830.1:c.1366C>T	XP_011522132.1:p.Arg456Cys
XR_934021.1:n.1473C>T
XR_934022.1:n.1473C>T
XR_934023.1:n.1473C>T
XM_006721516.3:c.1366C>T	XP_006721579.2:p.Arg456Cys
XM_011523829.2:c.1366C>T	XP_011522131.1:p.Arg456Cys
XM_011523830.2:c.1366C>T	XP_011522132.1:p.Arg456Cys
XM_024450741.1:c.1366C>T	XP_024306509.1:p.Arg456Cys
XR_934021.2:n.1425C>T
XR_934022.2:n.1425C>T
XR_934023.2:n.1425C>T
NM_000018.4:c.1366C>T MANE Select	NP_000009.1:p.Arg456Cys
NM_001033859.3:c.1300C>T	NP_001029031.1:p.Arg434Cys
NM_001270447.2:c.1435C>T	NP_001257376.1:p.Arg479Cys
NM_001270448.2:c.1138C>T	NP_001257377.1:p.Arg380Cys