Canonical Allele Identifier: CA2245716361

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225037C= , CM000679.2:g.7225037C=	GRCh38
NC_000017.10:g.7128356C= , CM000679.1:g.7128356C=	GRCh37
NC_000017.9:g.7069080C=	NCBI36
NG_007975.1:g.10204C=
NG_008391.2:g.14G=
NG_033038.1:g.14508G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1908C= MANE Select	ENSP00000349297.5:p.Ser636=
ENST00000322910.9:c.*1863C=	ENSP00000325395.5:n.*1863C=
ENST00000350303.9:c.1842C=	ENSP00000344152.5:p.Ser614=
ENST00000356839.9:c.1908C=	ENSP00000349297.5:p.Ser636=
ENST00000542255.6:c.787C=
ENST00000543245.6:c.1977C=	ENSP00000438689.2:p.Ser659=
ENST00000578033.1:n.333C=
ENST00000578319.5:n.489C=
ENST00000578711.1:n.1533C=
ENST00000578809.5:n.480C=
ENST00000579425.5:n.1024C=
ENST00000583848.5:c.274C=	ENSP00000466487.1:n.274C=
ENST00000583850.5:n.679C=
ENST00000583858.5:c.839C=
NM_000018.3:c.1908C=	NP_000009.1:p.Ser636=
NM_001033859.2:c.1842C=	NP_001029031.1:p.Ser614=
NM_001270447.1:c.1977C=	NP_001257376.1:p.Ser659=
NM_001270448.1:c.1680C=	NP_001257377.1:p.Ser560=
XM_006721516.2:c.1929C=	XP_006721579.2:p.Ser643=
XM_011523829.1:c.1827C=	XP_011522131.1:p.Ser609=
XM_011523830.1:c.1806C=	XP_011522132.1:p.Ser602=
XR_934021.1:n.2011C=
XR_934022.1:n.1917C=
XR_934023.1:n.1938C=
XM_006721516.3:c.1929C=	XP_006721579.2:p.Ser643=
XM_011523829.2:c.1827C=	XP_011522131.1:p.Ser609=
XM_011523830.2:c.1806C=	XP_011522132.1:p.Ser602=
XM_024450741.1:c.1896C=	XP_024306509.1:p.Ser632=
XR_934021.2:n.1963C=
XR_934022.2:n.1869C=
XR_934023.2:n.1890C=
NM_000018.4:c.1908C= MANE Select	NP_000009.1:p.Ser636=
NM_001033859.3:c.1842C=	NP_001029031.1:p.Ser614=
NM_001270447.2:c.1977C=	NP_001257376.1:p.Ser659=
NM_001270448.2:c.1680C=	NP_001257377.1:p.Ser560=