Canonical Allele Identifier: CA2245699198

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220964T= , CM000679.2:g.7220964T=	GRCh38
NC_000017.10:g.7124283T= , CM000679.1:g.7124283T=	GRCh37
NC_000017.9:g.7065007T=	NCBI36
NG_007975.1:g.6131T=
NG_008391.2:g.4087A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.383T= MANE Select	ENSP00000349297.5:p.Val128=
ENST00000322910.9:c.*338T=	ENSP00000325395.5:n.*338T=
ENST00000350303.9:c.317T=	ENSP00000344152.5:p.Val106=
ENST00000356839.9:c.383T=	ENSP00000349297.5:p.Val128=
ENST00000543245.6:c.452T=	ENSP00000438689.2:p.Val151=
ENST00000577191.5:n.460T=
ENST00000577433.5:n.591T=
ENST00000577857.5:n.293+134T=
ENST00000579286.5:n.564T=
ENST00000579886.2:c.221T=	ENSP00000463246.1:p.Val74=
ENST00000580365.1:n.114T=
ENST00000581378.5:c.82T=
ENST00000581562.5:n.430T=
ENST00000582056.5:n.566T=
ENST00000582166.1:n.364T=
ENST00000583312.5:c.383T=	ENSP00000467920.1:p.Val128=
ENST00000584103.5:c.416T=	ENSP00000465353.1:p.Val139=
NM_000018.3:c.383T=	NP_000009.1:p.Val128=
NM_001033859.2:c.317T=	NP_001029031.1:p.Val106=
NM_001270447.1:c.452T=	NP_001257376.1:p.Val151=
NM_001270448.1:c.155T=	NP_001257377.1:p.Val52=
XM_006721516.2:c.383T=	XP_006721579.2:p.Val128=
XM_011523829.1:c.383T=	XP_011522131.1:p.Val128=
XM_011523830.1:c.383T=	XP_011522132.1:p.Val128=
XR_934021.1:n.490T=
XR_934022.1:n.490T=
XR_934023.1:n.490T=
XM_006721516.3:c.383T=	XP_006721579.2:p.Val128=
XM_011523829.2:c.383T=	XP_011522131.1:p.Val128=
XM_011523830.2:c.383T=	XP_011522132.1:p.Val128=
XM_024450741.1:c.383T=	XP_024306509.1:p.Val128=
XR_934021.2:n.442T=
XR_934022.2:n.442T=
XR_934023.2:n.442T=
NM_000018.4:c.383T= MANE Select	NP_000009.1:p.Val128=
NM_001033859.3:c.317T=	NP_001029031.1:p.Val106=
NM_001270447.2:c.452T=	NP_001257376.1:p.Val151=
NM_001270448.2:c.155T=	NP_001257377.1:p.Val52=