Canonical Allele Identifier: CA2245700331

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221637G= , CM000679.2:g.7221637G=	GRCh38
NC_000017.10:g.7124956G= , CM000679.1:g.7124956G=	GRCh37
NC_000017.9:g.7065680G=	NCBI36
NG_007975.1:g.6804G=
NG_008391.2:g.3414C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.577G= MANE Select	ENSP00000349297.5:p.Gly193=
ENST00000322910.9:c.*532G=	ENSP00000325395.5:n.*532G=
ENST00000350303.9:c.511G=	ENSP00000344152.5:p.Gly171=
ENST00000356839.9:c.577G=	ENSP00000349297.5:p.Gly193=
ENST00000543245.6:c.646G=	ENSP00000438689.2:p.Gly216=
ENST00000577191.5:n.654G=
ENST00000577433.5:n.785G=
ENST00000577857.5:n.393G=
ENST00000579286.5:n.758G=
ENST00000579886.2:c.415G=	ENSP00000463246.1:p.Gly139=
ENST00000580365.1:n.308G=
ENST00000581378.5:c.295G=
ENST00000581562.5:n.525-315G=
ENST00000583312.5:c.577G=	ENSP00000467920.1:p.Gly193=
ENST00000583760.1:n.359G=
NM_000018.3:c.577G=	NP_000009.1:p.Gly193=
NM_001033859.2:c.511G=	NP_001029031.1:p.Gly171=
NM_001270447.1:c.646G=	NP_001257376.1:p.Gly216=
NM_001270448.1:c.349G=	NP_001257377.1:p.Gly117=
XM_006721516.2:c.577G=	XP_006721579.2:p.Gly193=
XM_011523829.1:c.577G=	XP_011522131.1:p.Gly193=
XM_011523830.1:c.577G=	XP_011522132.1:p.Gly193=
XR_934021.1:n.684G=
XR_934022.1:n.684G=
XR_934023.1:n.684G=
XM_006721516.3:c.577G=	XP_006721579.2:p.Gly193=
XM_011523829.2:c.577G=	XP_011522131.1:p.Gly193=
XM_011523830.2:c.577G=	XP_011522132.1:p.Gly193=
XM_024450741.1:c.577G=	XP_024306509.1:p.Gly193=
XR_934021.2:n.636G=
XR_934022.2:n.636G=
XR_934023.2:n.636G=
NM_000018.4:c.577G= MANE Select	NP_000009.1:p.Gly193=
NM_001033859.3:c.511G=	NP_001029031.1:p.Gly171=
NM_001270447.2:c.646G=	NP_001257376.1:p.Gly216=
NM_001270448.2:c.349G=	NP_001257377.1:p.Gly117=