Canonical Allele Identifier: CA2245700301

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221625A= , CM000679.2:g.7221625A=	GRCh38
NC_000017.10:g.7124944A= , CM000679.1:g.7124944A=	GRCh37
NC_000017.9:g.7065668A=	NCBI36
NG_007975.1:g.6792A=
NG_008391.2:g.3426T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.565A= MANE Select	ENSP00000349297.5:p.Ile189=
ENST00000322910.9:c.*520A=	ENSP00000325395.5:n.*520A=
ENST00000350303.9:c.499A=	ENSP00000344152.5:p.Ile167=
ENST00000356839.9:c.565A=	ENSP00000349297.5:p.Ile189=
ENST00000543245.6:c.634A=	ENSP00000438689.2:p.Ile212=
ENST00000577191.5:n.642A=
ENST00000577433.5:n.773A=
ENST00000577857.5:n.381A=
ENST00000579286.5:n.746A=
ENST00000579886.2:c.403A=	ENSP00000463246.1:p.Ile135=
ENST00000580365.1:n.296A=
ENST00000581378.5:c.283A=
ENST00000581562.5:n.525-327A=
ENST00000582166.1:n.546A=
ENST00000583312.5:c.565A=	ENSP00000467920.1:p.Ile189=
ENST00000583760.1:n.347A=
NM_000018.3:c.565A=	NP_000009.1:p.Ile189=
NM_001033859.2:c.499A=	NP_001029031.1:p.Ile167=
NM_001270447.1:c.634A=	NP_001257376.1:p.Ile212=
NM_001270448.1:c.337A=	NP_001257377.1:p.Ile113=
XM_006721516.2:c.565A=	XP_006721579.2:p.Ile189=
XM_011523829.1:c.565A=	XP_011522131.1:p.Ile189=
XM_011523830.1:c.565A=	XP_011522132.1:p.Ile189=
XR_934021.1:n.672A=
XR_934022.1:n.672A=
XR_934023.1:n.672A=
XM_006721516.3:c.565A=	XP_006721579.2:p.Ile189=
XM_011523829.2:c.565A=	XP_011522131.1:p.Ile189=
XM_011523830.2:c.565A=	XP_011522132.1:p.Ile189=
XM_024450741.1:c.565A=	XP_024306509.1:p.Ile189=
XR_934021.2:n.624A=
XR_934022.2:n.624A=
XR_934023.2:n.624A=
NM_000018.4:c.565A= MANE Select	NP_000009.1:p.Ile189=
NM_001033859.3:c.499A=	NP_001029031.1:p.Ile167=
NM_001270447.2:c.634A=	NP_001257376.1:p.Ile212=
NM_001270448.2:c.337A=	NP_001257377.1:p.Ile113=