Canonical Allele Identifier: CA2245712106

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223871T= , CM000679.2:g.7223871T=	GRCh38
NC_000017.10:g.7127190T= , CM000679.1:g.7127190T=	GRCh37
NC_000017.9:g.7067914T=	NCBI36
NG_007975.1:g.9038T=
NG_008391.2:g.1180A=
NG_033038.1:g.15674A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1328T= MANE Select	ENSP00000349297.5:p.Met443=
ENST00000322910.9:c.*1283T=	ENSP00000325395.5:n.*1283T=
ENST00000350303.9:c.1262T=	ENSP00000344152.5:p.Met421=
ENST00000356839.9:c.1328T=	ENSP00000349297.5:p.Met443=
ENST00000542255.6:c.186T=
ENST00000543245.6:c.1397T=	ENSP00000438689.2:p.Met466=
ENST00000578711.1:n.367T=
ENST00000579425.5:n.352T=
ENST00000579546.1:c.165T=
ENST00000583074.5:n.47T=
ENST00000583850.5:n.103T=
ENST00000583858.5:c.357T=
ENST00000585203.6:n.523+13T=
NM_000018.3:c.1328T=	NP_000009.1:p.Met443=
NM_001033859.2:c.1262T=	NP_001029031.1:p.Met421=
NM_001270447.1:c.1397T=	NP_001257376.1:p.Met466=
NM_001270448.1:c.1100T=	NP_001257377.1:p.Met367=
XM_006721516.2:c.1328T=	XP_006721579.2:p.Met443=
XM_011523829.1:c.1328T=	XP_011522131.1:p.Met443=
XM_011523830.1:c.1328T=	XP_011522132.1:p.Met443=
XR_934021.1:n.1435T=
XR_934022.1:n.1435T=
XR_934023.1:n.1435T=
XM_006721516.3:c.1328T=	XP_006721579.2:p.Met443=
XM_011523829.2:c.1328T=	XP_011522131.1:p.Met443=
XM_011523830.2:c.1328T=	XP_011522132.1:p.Met443=
XM_024450741.1:c.1328T=	XP_024306509.1:p.Met443=
XR_934021.2:n.1387T=
XR_934022.2:n.1387T=
XR_934023.2:n.1387T=
NM_000018.4:c.1328T= MANE Select	NP_000009.1:p.Met443=
NM_001033859.3:c.1262T=	NP_001029031.1:p.Met421=
NM_001270447.2:c.1397T=	NP_001257376.1:p.Met466=
NM_001270448.2:c.1100T=	NP_001257377.1:p.Met367=