Canonical Allele Identifier: CA2245699189

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220952C= , CM000679.2:g.7220952C=	GRCh38
NC_000017.10:g.7124271C= , CM000679.1:g.7124271C=	GRCh37
NC_000017.9:g.7064995C=	NCBI36
NG_007975.1:g.6119C=
NG_008391.2:g.4099G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.371C= MANE Select	ENSP00000349297.5:p.Ala124=
ENST00000322910.9:c.*326C=	ENSP00000325395.5:n.*326C=
ENST00000350303.9:c.305C=	ENSP00000344152.5:p.Ala102=
ENST00000356839.9:c.371C=	ENSP00000349297.5:p.Ala124=
ENST00000543245.6:c.440C=	ENSP00000438689.2:p.Ala147=
ENST00000577191.5:n.448C=
ENST00000577433.5:n.579C=
ENST00000577857.5:n.293+122C=
ENST00000579286.5:n.552C=
ENST00000579886.2:c.209C=	ENSP00000463246.1:p.Ala70=
ENST00000580365.1:n.102C=
ENST00000581378.5:c.70C=
ENST00000581562.5:n.418C=
ENST00000582056.5:n.554C=
ENST00000582166.1:n.352C=
ENST00000583312.5:c.371C=	ENSP00000467920.1:p.Ala124=
ENST00000584103.5:c.404C=	ENSP00000465353.1:p.Ala135=
NM_000018.3:c.371C=	NP_000009.1:p.Ala124=
NM_001033859.2:c.305C=	NP_001029031.1:p.Ala102=
NM_001270447.1:c.440C=	NP_001257376.1:p.Ala147=
NM_001270448.1:c.143C=	NP_001257377.1:p.Ala48=
XM_006721516.2:c.371C=	XP_006721579.2:p.Ala124=
XM_011523829.1:c.371C=	XP_011522131.1:p.Ala124=
XM_011523830.1:c.371C=	XP_011522132.1:p.Ala124=
XR_934021.1:n.478C=
XR_934022.1:n.478C=
XR_934023.1:n.478C=
XM_006721516.3:c.371C=	XP_006721579.2:p.Ala124=
XM_011523829.2:c.371C=	XP_011522131.1:p.Ala124=
XM_011523830.2:c.371C=	XP_011522132.1:p.Ala124=
XM_024450741.1:c.371C=	XP_024306509.1:p.Ala124=
XR_934021.2:n.430C=
XR_934022.2:n.430C=
XR_934023.2:n.430C=
NM_000018.4:c.371C= MANE Select	NP_000009.1:p.Ala124=
NM_001033859.3:c.305C=	NP_001029031.1:p.Ala102=
NM_001270447.2:c.440C=	NP_001257376.1:p.Ala147=
NM_001270448.2:c.143C=	NP_001257377.1:p.Ala48=