Canonical Allele Identifier: CA2245700363

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221646G= , CM000679.2:g.7221646G=	GRCh38
NC_000017.10:g.7124965G= , CM000679.1:g.7124965G=	GRCh37
NC_000017.9:g.7065689G=	NCBI36
NG_007975.1:g.6813G=
NG_008391.2:g.3405C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.586G= MANE Select	ENSP00000349297.5:p.Ala196=
ENST00000322910.9:c.*541G=	ENSP00000325395.5:n.*541G=
ENST00000350303.9:c.520G=	ENSP00000344152.5:p.Ala174=
ENST00000356839.9:c.586G=	ENSP00000349297.5:p.Ala196=
ENST00000543245.6:c.655G=	ENSP00000438689.2:p.Ala219=
ENST00000577191.5:n.663G=
ENST00000577433.5:n.794G=
ENST00000577857.5:n.402G=
ENST00000579286.5:n.767G=
ENST00000579886.2:c.424G=	ENSP00000463246.1:p.Ala142=
ENST00000580365.1:n.317G=
ENST00000581378.5:c.304G=
ENST00000581562.5:n.525-306G=
ENST00000583312.5:c.586G=	ENSP00000467920.1:p.Ala196=
ENST00000583760.1:n.368G=
NM_000018.3:c.586G=	NP_000009.1:p.Ala196=
NM_001033859.2:c.520G=	NP_001029031.1:p.Ala174=
NM_001270447.1:c.655G=	NP_001257376.1:p.Ala219=
NM_001270448.1:c.358G=	NP_001257377.1:p.Ala120=
XM_006721516.2:c.586G=	XP_006721579.2:p.Ala196=
XM_011523829.1:c.586G=	XP_011522131.1:p.Ala196=
XM_011523830.1:c.586G=	XP_011522132.1:p.Ala196=
XR_934021.1:n.693G=
XR_934022.1:n.693G=
XR_934023.1:n.693G=
XM_006721516.3:c.586G=	XP_006721579.2:p.Ala196=
XM_011523829.2:c.586G=	XP_011522131.1:p.Ala196=
XM_011523830.2:c.586G=	XP_011522132.1:p.Ala196=
XM_024450741.1:c.586G=	XP_024306509.1:p.Ala196=
XR_934021.2:n.645G=
XR_934022.2:n.645G=
XR_934023.2:n.645G=
NM_000018.4:c.586G= MANE Select	NP_000009.1:p.Ala196=
NM_001033859.3:c.520G=	NP_001029031.1:p.Ala174=
NM_001270447.2:c.655G=	NP_001257376.1:p.Ala219=
NM_001270448.2:c.358G=	NP_001257377.1:p.Ala120=