Canonical Allele Identifier: CA2245700121

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221575T= , CM000679.2:g.7221575T=	GRCh38
NC_000017.10:g.7124894T= , CM000679.1:g.7124894T=	GRCh37
NC_000017.9:g.7065618T=	NCBI36
NG_007975.1:g.6742T=
NG_008391.2:g.3476A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.515T= MANE Select	ENSP00000349297.5:p.Leu172=
ENST00000322910.9:c.*470T=	ENSP00000325395.5:n.*470T=
ENST00000350303.9:c.449T=	ENSP00000344152.5:p.Leu150=
ENST00000356839.9:c.515T=	ENSP00000349297.5:p.Leu172=
ENST00000543245.6:c.584T=	ENSP00000438689.2:p.Leu195=
ENST00000577191.5:n.592T=
ENST00000577433.5:n.723T=
ENST00000577857.5:n.331T=
ENST00000579286.5:n.696T=
ENST00000579886.2:c.353T=	ENSP00000463246.1:p.Leu118=
ENST00000580365.1:n.246T=
ENST00000581378.5:c.233T=
ENST00000581562.5:n.525-377T=
ENST00000582166.1:n.496T=
ENST00000583312.5:c.515T=	ENSP00000467920.1:p.Leu172=
ENST00000583760.1:n.297T=
NM_000018.3:c.515T=	NP_000009.1:p.Leu172=
NM_001033859.2:c.449T=	NP_001029031.1:p.Leu150=
NM_001270447.1:c.584T=	NP_001257376.1:p.Leu195=
NM_001270448.1:c.287T=	NP_001257377.1:p.Leu96=
XM_006721516.2:c.515T=	XP_006721579.2:p.Leu172=
XM_011523829.1:c.515T=	XP_011522131.1:p.Leu172=
XM_011523830.1:c.515T=	XP_011522132.1:p.Leu172=
XR_934021.1:n.622T=
XR_934022.1:n.622T=
XR_934023.1:n.622T=
XM_006721516.3:c.515T=	XP_006721579.2:p.Leu172=
XM_011523829.2:c.515T=	XP_011522131.1:p.Leu172=
XM_011523830.2:c.515T=	XP_011522132.1:p.Leu172=
XM_024450741.1:c.515T=	XP_024306509.1:p.Leu172=
XR_934021.2:n.574T=
XR_934022.2:n.574T=
XR_934023.2:n.574T=
NM_000018.4:c.515T= MANE Select	NP_000009.1:p.Leu172=
NM_001033859.3:c.449T=	NP_001029031.1:p.Leu150=
NM_001270447.2:c.584T=	NP_001257376.1:p.Leu195=
NM_001270448.2:c.287T=	NP_001257377.1:p.Leu96=