Canonical Allele Identifier: CA2245716079

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224972C= , CM000679.2:g.7224972C=	GRCh38
NC_000017.10:g.7128291C= , CM000679.1:g.7128291C=	GRCh37
NC_000017.9:g.7069015C=	NCBI36
NG_007975.1:g.10139C=
NG_008391.2:g.79G=
NG_033038.1:g.14573G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000018.4:c.1843C= MANE Select	NP_000009.1:p.Arg615=
ENST00000356839.10:c.1843C= MANE Select	ENSP00000349297.5:p.Arg615=
NM_000018.3:c.1843C=	NP_000009.1:p.Arg615=
NM_001033859.2:c.1777C=	NP_001029031.1:p.Arg593=
NM_001033859.3:c.1777C=	NP_001029031.1:p.Arg593=
NM_001270447.1:c.1912C=	NP_001257376.1:p.Arg638=
NM_001270447.2:c.1912C=	NP_001257376.1:p.Arg638=
NM_001270448.1:c.1615C=	NP_001257377.1:p.Arg539=
NM_001270448.2:c.1615C=	NP_001257377.1:p.Arg539=
ENST00000322910.9:c.*1798C=	ENSP00000325395.5:n.*1798C=
ENST00000350303.9:c.1777C=	ENSP00000344152.5:p.Arg593=
ENST00000356839.9:c.1843C=	ENSP00000349297.5:p.Arg615=
ENST00000542255.6:c.722C=
ENST00000543245.6:c.1912C=	ENSP00000438689.2:p.Arg638=
ENST00000578033.1:n.268C=
ENST00000578319.5:n.424C=
ENST00000578711.1:n.1468C=
ENST00000578809.5:n.415C=
ENST00000579425.5:n.959C=
ENST00000579546.1:c.578C=
ENST00000583848.5:c.209C=	ENSP00000466487.1:n.209C=
ENST00000583850.5:n.614C=
ENST00000583858.5:c.774C=
XM_006721516.2:c.1864C=	XP_006721579.2:p.Arg622=
XM_006721516.3:c.1864C=	XP_006721579.2:p.Arg622=
XM_011523829.1:c.1762C=	XP_011522131.1:p.Arg588=
XM_011523829.2:c.1762C=	XP_011522131.1:p.Arg588=
XM_011523830.1:c.1741C=	XP_011522132.1:p.Arg581=
XM_011523830.2:c.1741C=	XP_011522132.1:p.Arg581=
XM_024450741.1:c.1831C=	XP_024306509.1:p.Arg611=
XR_934021.1:n.1946C=
XR_934021.2:n.1898C=
XR_934022.1:n.1852C=
XR_934022.2:n.1804C=
XR_934023.1:n.1873C=
XR_934023.2:n.1825C=