Canonical Allele Identifier: CA2245699058

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220825T= , CM000679.2:g.7220825T=	GRCh38
NC_000017.10:g.7124144T= , CM000679.1:g.7124144T=	GRCh37
NC_000017.9:g.7064868T=	NCBI36
NG_007975.1:g.5992T=
NG_008391.2:g.4226A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.337T= MANE Select	ENSP00000349297.5:p.Phe113=
ENST00000322910.9:c.*292T=	ENSP00000325395.5:n.*292T=
ENST00000350303.9:c.271T=	ENSP00000344152.5:p.Phe91=
ENST00000356839.9:c.337T=	ENSP00000349297.5:p.Phe113=
ENST00000543245.6:c.406T=	ENSP00000438689.2:p.Phe136=
ENST00000577191.5:n.414T=
ENST00000577433.5:n.545T=
ENST00000577857.5:n.288T=
ENST00000579286.5:n.518T=
ENST00000579886.2:c.202-120T=	ENSP00000463246.1:n.202-120T=
ENST00000580365.1:n.68T=
ENST00000581378.5:c.36T=
ENST00000581562.5:n.384T=
ENST00000582056.5:n.427T=
ENST00000582166.1:n.225T=
ENST00000582356.5:n.536T=
ENST00000583312.5:c.337T=	ENSP00000467920.1:p.Phe113=
ENST00000584103.5:c.337T=	ENSP00000465353.1:p.Phe113=
NM_000018.3:c.337T=	NP_000009.1:p.Phe113=
NM_001033859.2:c.271T=	NP_001029031.1:p.Phe91=
NM_001270447.1:c.406T=	NP_001257376.1:p.Phe136=
NM_001270448.1:c.109T=	NP_001257377.1:p.Phe37=
XM_006721516.2:c.337T=	XP_006721579.2:p.Phe113=
XM_011523829.1:c.337T=	XP_011522131.1:p.Phe113=
XM_011523830.1:c.337T=	XP_011522132.1:p.Phe113=
XR_934021.1:n.444T=
XR_934022.1:n.444T=
XR_934023.1:n.444T=
XM_006721516.3:c.337T=	XP_006721579.2:p.Phe113=
XM_011523829.2:c.337T=	XP_011522131.1:p.Phe113=
XM_011523830.2:c.337T=	XP_011522132.1:p.Phe113=
XM_024450741.1:c.337T=	XP_024306509.1:p.Phe113=
XR_934021.2:n.396T=
XR_934022.2:n.396T=
XR_934023.2:n.396T=
NM_000018.4:c.337T= MANE Select	NP_000009.1:p.Phe113=
NM_001033859.3:c.271T=	NP_001029031.1:p.Phe91=
NM_001270447.2:c.406T=	NP_001257376.1:p.Phe136=
NM_001270448.2:c.109T=	NP_001257377.1:p.Phe37=