Canonical Allele Identifier: CA2245699050

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220816T= , CM000679.2:g.7220816T=	GRCh38
NC_000017.10:g.7124135T= , CM000679.1:g.7124135T=	GRCh37
NC_000017.9:g.7064859T=	NCBI36
NG_007975.1:g.5983T=
NG_008391.2:g.4235A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.328T= MANE Select	ENSP00000349297.5:p.Ser110=
ENST00000322910.9:c.*283T=	ENSP00000325395.5:n.*283T=
ENST00000350303.9:c.262T=	ENSP00000344152.5:p.Ser88=
ENST00000356839.9:c.328T=	ENSP00000349297.5:p.Ser110=
ENST00000543245.6:c.397T=	ENSP00000438689.2:p.Ser133=
ENST00000577191.5:n.405T=
ENST00000577433.5:n.536T=
ENST00000577857.5:n.279T=
ENST00000579286.5:n.509T=
ENST00000579886.2:c.202-129T=	ENSP00000463246.1:n.202-129T=
ENST00000580365.1:n.59T=
ENST00000581378.5:c.27T=
ENST00000581562.5:n.375T=
ENST00000582056.5:n.418T=
ENST00000582166.1:n.216T=
ENST00000582356.5:n.527T=
ENST00000583312.5:c.328T=	ENSP00000467920.1:p.Ser110=
ENST00000584103.5:c.328T=	ENSP00000465353.1:p.Ser110=
NM_000018.3:c.328T=	NP_000009.1:p.Ser110=
NM_001033859.2:c.262T=	NP_001029031.1:p.Ser88=
NM_001270447.1:c.397T=	NP_001257376.1:p.Ser133=
NM_001270448.1:c.100T=	NP_001257377.1:p.Ser34=
XM_006721516.2:c.328T=	XP_006721579.2:p.Ser110=
XM_011523829.1:c.328T=	XP_011522131.1:p.Ser110=
XM_011523830.1:c.328T=	XP_011522132.1:p.Ser110=
XR_934021.1:n.435T=
XR_934022.1:n.435T=
XR_934023.1:n.435T=
XM_006721516.3:c.328T=	XP_006721579.2:p.Ser110=
XM_011523829.2:c.328T=	XP_011522131.1:p.Ser110=
XM_011523830.2:c.328T=	XP_011522132.1:p.Ser110=
XM_024450741.1:c.328T=	XP_024306509.1:p.Ser110=
XR_934021.2:n.387T=
XR_934022.2:n.387T=
XR_934023.2:n.387T=
NM_000018.4:c.328T= MANE Select	NP_000009.1:p.Ser110=
NM_001033859.3:c.262T=	NP_001029031.1:p.Ser88=
NM_001270447.2:c.397T=	NP_001257376.1:p.Ser133=
NM_001270448.2:c.100T=	NP_001257377.1:p.Ser34=