Canonical Allele Identifier: CA2245711708

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223730G= , CM000679.2:g.7223730G=	GRCh38
NC_000017.10:g.7127049G= , CM000679.1:g.7127049G=	GRCh37
NC_000017.9:g.7067773G=	NCBI36
NG_007975.1:g.8897G=
NG_008391.2:g.1321C=
NG_033038.1:g.15815C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1269G= MANE Select	ENSP00000349297.5:p.Ser423=
ENST00000322910.9:c.*1224G=	ENSP00000325395.5:n.*1224G=
ENST00000350303.9:c.1203G=	ENSP00000344152.5:p.Ser401=
ENST00000356839.9:c.1269G=	ENSP00000349297.5:p.Ser423=
ENST00000542255.6:c.127G=
ENST00000543245.6:c.1338G=	ENSP00000438689.2:p.Ser446=
ENST00000578579.2:n.440G=
ENST00000578711.1:n.226G=
ENST00000578824.5:n.685G=
ENST00000579425.5:n.293G=
ENST00000579546.1:c.106G=
ENST00000583850.5:n.44G=
ENST00000583858.5:c.298G=
ENST00000585203.6:n.477G=
NM_000018.3:c.1269G=	NP_000009.1:p.Ser423=
NM_001033859.2:c.1203G=	NP_001029031.1:p.Ser401=
NM_001270447.1:c.1338G=	NP_001257376.1:p.Ser446=
NM_001270448.1:c.1041G=	NP_001257377.1:p.Ser347=
XM_006721516.2:c.1269G=	XP_006721579.2:p.Ser423=
XM_011523829.1:c.1269G=	XP_011522131.1:p.Ser423=
XM_011523830.1:c.1269G=	XP_011522132.1:p.Ser423=
XR_934021.1:n.1376G=
XR_934022.1:n.1376G=
XR_934023.1:n.1376G=
XM_006721516.3:c.1269G=	XP_006721579.2:p.Ser423=
XM_011523829.2:c.1269G=	XP_011522131.1:p.Ser423=
XM_011523830.2:c.1269G=	XP_011522132.1:p.Ser423=
XM_024450741.1:c.1269G=	XP_024306509.1:p.Ser423=
XR_934021.2:n.1328G=
XR_934022.2:n.1328G=
XR_934023.2:n.1328G=
NM_000018.4:c.1269G= MANE Select	NP_000009.1:p.Ser423=
NM_001033859.3:c.1203G=	NP_001029031.1:p.Ser401=
NM_001270447.2:c.1338G=	NP_001257376.1:p.Ser446=
NM_001270448.2:c.1041G=	NP_001257377.1:p.Ser347=