Canonical Allele Identifier: CA2245698685

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220666A= , CM000679.2:g.7220666A=	GRCh38
NC_000017.10:g.7123985A= , CM000679.1:g.7123985A=	GRCh37
NC_000017.9:g.7064709A=	NCBI36
NG_007975.1:g.5833A=
NG_008391.2:g.4385T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.267A= MANE Select	ENSP00000349297.5:p.Pro89=
ENST00000322910.9:c.*222A=	ENSP00000325395.5:n.*222A=
ENST00000350303.9:c.201A=	ENSP00000344152.5:p.Pro67=
ENST00000356839.9:c.267A=	ENSP00000349297.5:p.Pro89=
ENST00000543245.6:c.336A=	ENSP00000438689.2:p.Pro112=
ENST00000577191.5:n.344A=
ENST00000577433.5:n.475A=
ENST00000577857.5:n.229-100A=
ENST00000578269.5:n.714A=
ENST00000578421.1:n.475A=
ENST00000579286.5:n.448A=
ENST00000579886.2:c.201+140A=	ENSP00000463246.1:n.201+140A=
ENST00000580263.5:n.431A=
ENST00000581562.5:n.314A=
ENST00000582056.5:n.357A=
ENST00000582166.1:n.155A=
ENST00000582356.5:n.466A=
ENST00000583312.5:c.267A=	ENSP00000467920.1:p.Pro89=
ENST00000584103.5:c.267A=	ENSP00000465353.1:p.Pro89=
NM_000018.3:c.267A=	NP_000009.1:p.Pro89=
NM_001033859.2:c.201A=	NP_001029031.1:p.Pro67=
NM_001270447.1:c.336A=	NP_001257376.1:p.Pro112=
NM_001270448.1:c.39A=	NP_001257377.1:p.Pro13=
XM_006721516.2:c.267A=	XP_006721579.2:p.Pro89=
XM_011523829.1:c.267A=	XP_011522131.1:p.Pro89=
XM_011523830.1:c.267A=	XP_011522132.1:p.Pro89=
XR_934021.1:n.374A=
XR_934022.1:n.374A=
XR_934023.1:n.374A=
XM_006721516.3:c.267A=	XP_006721579.2:p.Pro89=
XM_011523829.2:c.267A=	XP_011522131.1:p.Pro89=
XM_011523830.2:c.267A=	XP_011522132.1:p.Pro89=
XM_024450741.1:c.267A=	XP_024306509.1:p.Pro89=
XR_934021.2:n.326A=
XR_934022.2:n.326A=
XR_934023.2:n.326A=
NM_000018.4:c.267A= MANE Select	NP_000009.1:p.Pro89=
NM_001033859.3:c.201A=	NP_001029031.1:p.Pro67=
NM_001270447.2:c.336A=	NP_001257376.1:p.Pro112=
NM_001270448.2:c.39A=	NP_001257377.1:p.Pro13=