Canonical Allele Identifier: CA2245700774

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221954G= , CM000679.2:g.7221954G=	GRCh38
NC_000017.10:g.7125273G= , CM000679.1:g.7125273G=	GRCh37
NC_000017.9:g.7065997G=	NCBI36
NG_007975.1:g.7121G=
NG_008391.2:g.3097C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.625G= MANE Select	ENSP00000349297.5:p.Glu209=
ENST00000322910.9:c.*580G=	ENSP00000325395.5:n.*580G=
ENST00000350303.9:c.559G=	ENSP00000344152.5:p.Glu187=
ENST00000356839.9:c.625G=	ENSP00000349297.5:p.Glu209=
ENST00000543245.6:c.694G=	ENSP00000438689.2:p.Glu232=
ENST00000577191.5:n.702G=
ENST00000577857.5:n.441G=
ENST00000579286.5:n.806G=
ENST00000579886.2:c.463G=	ENSP00000463246.1:p.Glu155=
ENST00000580365.1:n.356G=
ENST00000581378.5:c.343G=
ENST00000581562.5:n.527G=
ENST00000582379.1:n.9G=
ENST00000583312.5:c.640G=	ENSP00000467920.1:p.Glu214=
ENST00000583760.1:n.407G=
NM_000018.3:c.625G=	NP_000009.1:p.Glu209=
NM_001033859.2:c.559G=	NP_001029031.1:p.Glu187=
NM_001270447.1:c.694G=	NP_001257376.1:p.Glu232=
NM_001270448.1:c.397G=	NP_001257377.1:p.Glu133=
XM_006721516.2:c.625G=	XP_006721579.2:p.Glu209=
XM_011523829.1:c.625G=	XP_011522131.1:p.Glu209=
XM_011523830.1:c.625G=	XP_011522132.1:p.Glu209=
XR_934021.1:n.732G=
XR_934022.1:n.732G=
XR_934023.1:n.732G=
XM_006721516.3:c.625G=	XP_006721579.2:p.Glu209=
XM_011523829.2:c.625G=	XP_011522131.1:p.Glu209=
XM_011523830.2:c.625G=	XP_011522132.1:p.Glu209=
XM_024450741.1:c.625G=	XP_024306509.1:p.Glu209=
XR_934021.2:n.684G=
XR_934022.2:n.684G=
XR_934023.2:n.684G=
NM_000018.4:c.625G= MANE Select	NP_000009.1:p.Glu209=
NM_001033859.3:c.559G=	NP_001029031.1:p.Glu187=
NM_001270447.2:c.694G=	NP_001257376.1:p.Glu232=
NM_001270448.2:c.397G=	NP_001257377.1:p.Glu133=