Canonical Allele Identifier: CA2245700144

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221581T= , CM000679.2:g.7221581T=	GRCh38
NC_000017.10:g.7124900T= , CM000679.1:g.7124900T=	GRCh37
NC_000017.9:g.7065624T=	NCBI36
NG_007975.1:g.6748T=
NG_008391.2:g.3470A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.521T= MANE Select	ENSP00000349297.5:p.Val174=
ENST00000322910.9:c.*476T=	ENSP00000325395.5:n.*476T=
ENST00000350303.9:c.455T=	ENSP00000344152.5:p.Val152=
ENST00000356839.9:c.521T=	ENSP00000349297.5:p.Val174=
ENST00000543245.6:c.590T=	ENSP00000438689.2:p.Val197=
ENST00000577191.5:n.598T=
ENST00000577433.5:n.729T=
ENST00000577857.5:n.337T=
ENST00000579286.5:n.702T=
ENST00000579886.2:c.359T=	ENSP00000463246.1:p.Val120=
ENST00000580365.1:n.252T=
ENST00000581378.5:c.239T=
ENST00000581562.5:n.525-371T=
ENST00000582166.1:n.502T=
ENST00000583312.5:c.521T=	ENSP00000467920.1:p.Val174=
ENST00000583760.1:n.303T=
NM_000018.3:c.521T=	NP_000009.1:p.Val174=
NM_001033859.2:c.455T=	NP_001029031.1:p.Val152=
NM_001270447.1:c.590T=	NP_001257376.1:p.Val197=
NM_001270448.1:c.293T=	NP_001257377.1:p.Val98=
XM_006721516.2:c.521T=	XP_006721579.2:p.Val174=
XM_011523829.1:c.521T=	XP_011522131.1:p.Val174=
XM_011523830.1:c.521T=	XP_011522132.1:p.Val174=
XR_934021.1:n.628T=
XR_934022.1:n.628T=
XR_934023.1:n.628T=
XM_006721516.3:c.521T=	XP_006721579.2:p.Val174=
XM_011523829.2:c.521T=	XP_011522131.1:p.Val174=
XM_011523830.2:c.521T=	XP_011522132.1:p.Val174=
XM_024450741.1:c.521T=	XP_024306509.1:p.Val174=
XR_934021.2:n.580T=
XR_934022.2:n.580T=
XR_934023.2:n.580T=
NM_000018.4:c.521T= MANE Select	NP_000009.1:p.Val174=
NM_001033859.3:c.455T=	NP_001029031.1:p.Val152=
NM_001270447.2:c.590T=	NP_001257376.1:p.Val197=
NM_001270448.2:c.293T=	NP_001257377.1:p.Val98=