Canonical Allele Identifier: CA2245712012

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223853T= , CM000679.2:g.7223853T=	GRCh38
NC_000017.10:g.7127172T= , CM000679.1:g.7127172T=	GRCh37
NC_000017.9:g.7067896T=	NCBI36
NG_007975.1:g.9020T=
NG_008391.2:g.1198A=
NG_033038.1:g.15692A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1310T= MANE Select	ENSP00000349297.5:p.Met437=
ENST00000322910.9:c.*1265T=	ENSP00000325395.5:n.*1265T=
ENST00000350303.9:c.1244T=	ENSP00000344152.5:p.Met415=
ENST00000356839.9:c.1310T=	ENSP00000349297.5:p.Met437=
ENST00000542255.6:c.168T=
ENST00000543245.6:c.1379T=	ENSP00000438689.2:p.Met460=
ENST00000578711.1:n.349T=
ENST00000579425.5:n.334T=
ENST00000579546.1:c.147T=
ENST00000583074.5:n.29T=
ENST00000583850.5:n.85T=
ENST00000583858.5:c.339T=
ENST00000585203.6:n.518T=
NM_000018.3:c.1310T=	NP_000009.1:p.Met437=
NM_001033859.2:c.1244T=	NP_001029031.1:p.Met415=
NM_001270447.1:c.1379T=	NP_001257376.1:p.Met460=
NM_001270448.1:c.1082T=	NP_001257377.1:p.Met361=
XM_006721516.2:c.1310T=	XP_006721579.2:p.Met437=
XM_011523829.1:c.1310T=	XP_011522131.1:p.Met437=
XM_011523830.1:c.1310T=	XP_011522132.1:p.Met437=
XR_934021.1:n.1417T=
XR_934022.1:n.1417T=
XR_934023.1:n.1417T=
XM_006721516.3:c.1310T=	XP_006721579.2:p.Met437=
XM_011523829.2:c.1310T=	XP_011522131.1:p.Met437=
XM_011523830.2:c.1310T=	XP_011522132.1:p.Met437=
XM_024450741.1:c.1310T=	XP_024306509.1:p.Met437=
XR_934021.2:n.1369T=
XR_934022.2:n.1369T=
XR_934023.2:n.1369T=
NM_000018.4:c.1310T= MANE Select	NP_000009.1:p.Met437=
NM_001033859.3:c.1244T=	NP_001029031.1:p.Met415=
NM_001270447.2:c.1379T=	NP_001257376.1:p.Met460=
NM_001270448.2:c.1082T=	NP_001257377.1:p.Met361=