Canonical Allele Identifier: CA2245709616

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222781G= , CM000679.2:g.7222781G=	GRCh38
NC_000017.10:g.7126100G= , CM000679.1:g.7126100G=	GRCh37
NC_000017.9:g.7066824G=	NCBI36
NG_007975.1:g.7948G=
NG_008391.2:g.2270C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.993G= MANE Select	ENSP00000349297.5:p.Lys331=
ENST00000322910.9:c.*948G=	ENSP00000325395.5:n.*948G=
ENST00000350303.9:c.927G=	ENSP00000344152.5:p.Lys309=
ENST00000356839.9:c.993G=	ENSP00000349297.5:p.Lys331=
ENST00000543245.6:c.1062G=	ENSP00000438689.2:p.Lys354=
ENST00000578824.5:n.142G=
ENST00000581378.5:c.711G=
ENST00000582379.1:n.377G=
ENST00000583858.5:c.22G=
NM_000018.3:c.993G=	NP_000009.1:p.Lys331=
NM_001033859.2:c.927G=	NP_001029031.1:p.Lys309=
NM_001270447.1:c.1062G=	NP_001257376.1:p.Lys354=
NM_001270448.1:c.765G=	NP_001257377.1:p.Lys255=
XM_006721516.2:c.993G=	XP_006721579.2:p.Lys331=
XM_011523829.1:c.993G=	XP_011522131.1:p.Lys331=
XM_011523830.1:c.993G=	XP_011522132.1:p.Lys331=
XR_934021.1:n.1100G=
XR_934022.1:n.1100G=
XR_934023.1:n.1100G=
XM_006721516.3:c.993G=	XP_006721579.2:p.Lys331=
XM_011523829.2:c.993G=	XP_011522131.1:p.Lys331=
XM_011523830.2:c.993G=	XP_011522132.1:p.Lys331=
XM_024450741.1:c.993G=	XP_024306509.1:p.Lys331=
XR_934021.2:n.1052G=
XR_934022.2:n.1052G=
XR_934023.2:n.1052G=
NM_000018.4:c.993G= MANE Select	NP_000009.1:p.Lys331=
NM_001033859.3:c.927G=	NP_001029031.1:p.Lys309=
NM_001270447.2:c.1062G=	NP_001257376.1:p.Lys354=
NM_001270448.2:c.765G=	NP_001257377.1:p.Lys255=