Canonical Allele Identifier: CA2245710506

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223159G= , CM000679.2:g.7223159G=	GRCh38
NC_000017.10:g.7126478G= , CM000679.1:g.7126478G=	GRCh37
NC_000017.9:g.7067202G=	NCBI36
NG_007975.1:g.8326G=
NG_008391.2:g.1892C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1104G= MANE Select	ENSP00000349297.5:p.Gln368=
ENST00000322910.9:c.*1059G=	ENSP00000325395.5:n.*1059G=
ENST00000350303.9:c.1038G=	ENSP00000344152.5:p.Gln346=
ENST00000356839.9:c.1104G=	ENSP00000349297.5:p.Gln368=
ENST00000543245.6:c.1173G=	ENSP00000438689.2:p.Gln391=
ENST00000578579.2:n.53G=
ENST00000578824.5:n.520G=
ENST00000579425.5:n.128G=
ENST00000582379.1:n.755G=
ENST00000583858.5:c.133G=
ENST00000585203.6:n.312G=
NM_000018.3:c.1104G=	NP_000009.1:p.Gln368=
NM_001033859.2:c.1038G=	NP_001029031.1:p.Gln346=
NM_001270447.1:c.1173G=	NP_001257376.1:p.Gln391=
NM_001270448.1:c.876G=	NP_001257377.1:p.Gln292=
XM_006721516.2:c.1104G=	XP_006721579.2:p.Gln368=
XM_011523829.1:c.1104G=	XP_011522131.1:p.Gln368=
XM_011523830.1:c.1104G=	XP_011522132.1:p.Gln368=
XR_934021.1:n.1211G=
XR_934022.1:n.1211G=
XR_934023.1:n.1211G=
XM_006721516.3:c.1104G=	XP_006721579.2:p.Gln368=
XM_011523829.2:c.1104G=	XP_011522131.1:p.Gln368=
XM_011523830.2:c.1104G=	XP_011522132.1:p.Gln368=
XM_024450741.1:c.1104G=	XP_024306509.1:p.Gln368=
XR_934021.2:n.1163G=
XR_934022.2:n.1163G=
XR_934023.2:n.1163G=
NM_000018.4:c.1104G= MANE Select	NP_000009.1:p.Gln368=
NM_001033859.3:c.1038G=	NP_001029031.1:p.Gln346=
NM_001270447.2:c.1173G=	NP_001257376.1:p.Gln391=
NM_001270448.2:c.876G=	NP_001257377.1:p.Gln292=