Canonical Allele Identifier: CA2245698719

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220676G= , CM000679.2:g.7220676G=	GRCh38
NC_000017.10:g.7123995G= , CM000679.1:g.7123995G=	GRCh37
NC_000017.9:g.7064719G=	NCBI36
NG_007975.1:g.5843G=
NG_008391.2:g.4375C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.277G= MANE Select	ENSP00000349297.5:p.Val93=
ENST00000322910.9:c.*232G=	ENSP00000325395.5:n.*232G=
ENST00000350303.9:c.211G=	ENSP00000344152.5:p.Val71=
ENST00000356839.9:c.277G=	ENSP00000349297.5:p.Val93=
ENST00000543245.6:c.346G=	ENSP00000438689.2:p.Val116=
ENST00000577191.5:n.354G=
ENST00000577433.5:n.485G=
ENST00000577857.5:n.229-90G=
ENST00000578269.5:n.724G=
ENST00000578421.1:n.485G=
ENST00000579286.5:n.458G=
ENST00000579886.2:c.201+150G=	ENSP00000463246.1:n.201+150G=
ENST00000580263.5:n.441G=
ENST00000581562.5:n.324G=
ENST00000582056.5:n.367G=
ENST00000582166.1:n.165G=
ENST00000582356.5:n.476G=
ENST00000583312.5:c.277G=	ENSP00000467920.1:p.Val93=
ENST00000584103.5:c.277G=	ENSP00000465353.1:p.Val93=
NM_000018.3:c.277G=	NP_000009.1:p.Val93=
NM_001033859.2:c.211G=	NP_001029031.1:p.Val71=
NM_001270447.1:c.346G=	NP_001257376.1:p.Val116=
NM_001270448.1:c.49G=	NP_001257377.1:p.Val17=
XM_006721516.2:c.277G=	XP_006721579.2:p.Val93=
XM_011523829.1:c.277G=	XP_011522131.1:p.Val93=
XM_011523830.1:c.277G=	XP_011522132.1:p.Val93=
XR_934021.1:n.384G=
XR_934022.1:n.384G=
XR_934023.1:n.384G=
XM_006721516.3:c.277G=	XP_006721579.2:p.Val93=
XM_011523829.2:c.277G=	XP_011522131.1:p.Val93=
XM_011523830.2:c.277G=	XP_011522132.1:p.Val93=
XM_024450741.1:c.277G=	XP_024306509.1:p.Val93=
XR_934021.2:n.336G=
XR_934022.2:n.336G=
XR_934023.2:n.336G=
NM_000018.4:c.277G= MANE Select	NP_000009.1:p.Val93=
NM_001033859.3:c.211G=	NP_001029031.1:p.Val71=
NM_001270447.2:c.346G=	NP_001257376.1:p.Val116=
NM_001270448.2:c.49G=	NP_001257377.1:p.Val17=