Canonical Allele Identifier: CA2245701079

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222080A= , CM000679.2:g.7222080A=	GRCh38
NC_000017.10:g.7125399A= , CM000679.1:g.7125399A=	GRCh37
NC_000017.9:g.7066123A=	NCBI36
NG_007975.1:g.7247A=
NG_008391.2:g.2971T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.751A= MANE Select	ENSP00000349297.5:p.Ser251=
ENST00000322910.9:c.*706A=	ENSP00000325395.5:n.*706A=
ENST00000350303.9:c.685A=	ENSP00000344152.5:p.Ser229=
ENST00000356839.9:c.751A=	ENSP00000349297.5:p.Ser251=
ENST00000543245.6:c.820A=	ENSP00000438689.2:p.Ser274=
ENST00000577191.5:n.828A=
ENST00000579286.5:n.932A=
ENST00000580365.1:n.482A=
ENST00000581378.5:c.469A=
ENST00000582379.1:n.135A=
ENST00000583760.1:n.533A=
NM_000018.3:c.751A=	NP_000009.1:p.Ser251=
NM_001033859.2:c.685A=	NP_001029031.1:p.Ser229=
NM_001270447.1:c.820A=	NP_001257376.1:p.Ser274=
NM_001270448.1:c.523A=	NP_001257377.1:p.Ser175=
XM_006721516.2:c.751A=	XP_006721579.2:p.Ser251=
XM_011523829.1:c.751A=	XP_011522131.1:p.Ser251=
XM_011523830.1:c.751A=	XP_011522132.1:p.Ser251=
XR_934021.1:n.858A=
XR_934022.1:n.858A=
XR_934023.1:n.858A=
XM_006721516.3:c.751A=	XP_006721579.2:p.Ser251=
XM_011523829.2:c.751A=	XP_011522131.1:p.Ser251=
XM_011523830.2:c.751A=	XP_011522132.1:p.Ser251=
XM_024450741.1:c.751A=	XP_024306509.1:p.Ser251=
XR_934021.2:n.810A=
XR_934022.2:n.810A=
XR_934023.2:n.810A=
NM_000018.4:c.751A= MANE Select	NP_000009.1:p.Ser251=
NM_001033859.3:c.685A=	NP_001029031.1:p.Ser229=
NM_001270447.2:c.820A=	NP_001257376.1:p.Ser274=
NM_001270448.2:c.523A=	NP_001257377.1:p.Ser175=