Canonical Allele Identifier: CA2245711695

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223729C= , CM000679.2:g.7223729C=	GRCh38
NC_000017.10:g.7127048C= , CM000679.1:g.7127048C=	GRCh37
NC_000017.9:g.7067772C=	NCBI36
NG_007975.1:g.8896C=
NG_008391.2:g.1322G=
NG_033038.1:g.15816G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1268C= MANE Select	ENSP00000349297.5:p.Ser423=
ENST00000322910.9:c.*1223C=	ENSP00000325395.5:n.*1223C=
ENST00000350303.9:c.1202C=	ENSP00000344152.5:p.Ser401=
ENST00000356839.9:c.1268C=	ENSP00000349297.5:p.Ser423=
ENST00000542255.6:c.126C=
ENST00000543245.6:c.1337C=	ENSP00000438689.2:p.Ser446=
ENST00000578579.2:n.439C=
ENST00000578711.1:n.225C=
ENST00000578824.5:n.684C=
ENST00000579425.5:n.292C=
ENST00000579546.1:c.105C=
ENST00000583850.5:n.43C=
ENST00000583858.5:c.297C=
ENST00000585203.6:n.476C=
NM_000018.3:c.1268C=	NP_000009.1:p.Ser423=
NM_001033859.2:c.1202C=	NP_001029031.1:p.Ser401=
NM_001270447.1:c.1337C=	NP_001257376.1:p.Ser446=
NM_001270448.1:c.1040C=	NP_001257377.1:p.Ser347=
XM_006721516.2:c.1268C=	XP_006721579.2:p.Ser423=
XM_011523829.1:c.1268C=	XP_011522131.1:p.Ser423=
XM_011523830.1:c.1268C=	XP_011522132.1:p.Ser423=
XR_934021.1:n.1375C=
XR_934022.1:n.1375C=
XR_934023.1:n.1375C=
XM_006721516.3:c.1268C=	XP_006721579.2:p.Ser423=
XM_011523829.2:c.1268C=	XP_011522131.1:p.Ser423=
XM_011523830.2:c.1268C=	XP_011522132.1:p.Ser423=
XM_024450741.1:c.1268C=	XP_024306509.1:p.Ser423=
XR_934021.2:n.1327C=
XR_934022.2:n.1327C=
XR_934023.2:n.1327C=
NM_000018.4:c.1268C= MANE Select	NP_000009.1:p.Ser423=
NM_001033859.3:c.1202C=	NP_001029031.1:p.Ser401=
NM_001270447.2:c.1337C=	NP_001257376.1:p.Ser446=
NM_001270448.2:c.1040C=	NP_001257377.1:p.Ser347=