Canonical Allele Identifier: CA397722699

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220924G>T , CM000679.2:g.7220924G>T	GRCh38
NC_000017.10:g.7124243G>T , CM000679.1:g.7124243G>T	GRCh37
NC_000017.9:g.7064967G>T	NCBI36
NG_007975.1:g.6091G>T
NG_008391.2:g.4127C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000018.4:c.343G>T MANE Select	NP_000009.1:p.Glu115Ter
ENST00000356839.10:c.343G>T MANE Select	ENSP00000349297.5:p.Glu115Ter
NM_000018.3:c.343G>T	NP_000009.1:p.Glu115Ter
NM_001033859.2:c.277G>T	NP_001029031.1:p.Glu93Ter
NM_001033859.3:c.277G>T	NP_001029031.1:p.Glu93Ter
NM_001270447.1:c.412G>T	NP_001257376.1:p.Glu138Ter
NM_001270447.2:c.412G>T	NP_001257376.1:p.Glu138Ter
NM_001270448.1:c.115G>T	NP_001257377.1:p.Glu39Ter
NM_001270448.2:c.115G>T	NP_001257377.1:p.Glu39Ter
ENST00000322910.9:c.*298G>T	ENSP00000325395.5:n.*298G>T
ENST00000350303.9:c.277G>T	ENSP00000344152.5:p.Glu93Ter
ENST00000356839.9:c.343G>T	ENSP00000349297.5:p.Glu115Ter
ENST00000543245.6:c.412G>T	ENSP00000438689.2:p.Glu138Ter
ENST00000577191.5:n.420G>T
ENST00000577433.5:n.551G>T
ENST00000577857.5:n.293+94G>T
ENST00000579286.5:n.524G>T
ENST00000579886.2:c.202-21G>T	ENSP00000463246.1:n.202-21G>T
ENST00000580365.1:n.74G>T
ENST00000581378.5:c.42G>T
ENST00000581562.5:n.390G>T
ENST00000582056.5:n.526G>T
ENST00000582166.1:n.324G>T
ENST00000583312.5:c.343G>T	ENSP00000467920.1:p.Glu115Ter
ENST00000584103.5:c.376G>T	ENSP00000465353.1:p.Glu126Ter
XM_006721516.2:c.343G>T	XP_006721579.2:p.Glu115Ter
XM_006721516.3:c.343G>T	XP_006721579.2:p.Glu115Ter
XM_011523829.1:c.343G>T	XP_011522131.1:p.Glu115Ter
XM_011523829.2:c.343G>T	XP_011522131.1:p.Glu115Ter
XM_011523830.1:c.343G>T	XP_011522132.1:p.Glu115Ter
XM_011523830.2:c.343G>T	XP_011522132.1:p.Glu115Ter
XM_024450741.1:c.343G>T	XP_024306509.1:p.Glu115Ter
XR_934021.1:n.450G>T
XR_934021.2:n.402G>T
XR_934022.1:n.450G>T
XR_934022.2:n.402G>T
XR_934023.1:n.450G>T
XR_934023.2:n.402G>T