Canonical Allele Identifier: CA2245709667

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222789T= , CM000679.2:g.7222789T=	GRCh38
NC_000017.10:g.7126108T= , CM000679.1:g.7126108T=	GRCh37
NC_000017.9:g.7066832T=	NCBI36
NG_007975.1:g.7956T=
NG_008391.2:g.2262A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1001T= MANE Select	ENSP00000349297.5:p.Met334=
ENST00000322910.9:c.*956T=	ENSP00000325395.5:n.*956T=
ENST00000350303.9:c.935T=	ENSP00000344152.5:p.Met312=
ENST00000356839.9:c.1001T=	ENSP00000349297.5:p.Met334=
ENST00000543245.6:c.1070T=	ENSP00000438689.2:p.Met357=
ENST00000578824.5:n.150T=
ENST00000581378.5:c.719T=
ENST00000582379.1:n.385T=
ENST00000583858.5:c.30T=
NM_000018.3:c.1001T=	NP_000009.1:p.Met334=
NM_001033859.2:c.935T=	NP_001029031.1:p.Met312=
NM_001270447.1:c.1070T=	NP_001257376.1:p.Met357=
NM_001270448.1:c.773T=	NP_001257377.1:p.Met258=
XM_006721516.2:c.1001T=	XP_006721579.2:p.Met334=
XM_011523829.1:c.1001T=	XP_011522131.1:p.Met334=
XM_011523830.1:c.1001T=	XP_011522132.1:p.Met334=
XR_934021.1:n.1108T=
XR_934022.1:n.1108T=
XR_934023.1:n.1108T=
XM_006721516.3:c.1001T=	XP_006721579.2:p.Met334=
XM_011523829.2:c.1001T=	XP_011522131.1:p.Met334=
XM_011523830.2:c.1001T=	XP_011522132.1:p.Met334=
XM_024450741.1:c.1001T=	XP_024306509.1:p.Met334=
XR_934021.2:n.1060T=
XR_934022.2:n.1060T=
XR_934023.2:n.1060T=
NM_000018.4:c.1001T= MANE Select	NP_000009.1:p.Met334=
NM_001033859.3:c.935T=	NP_001029031.1:p.Met312=
NM_001270447.2:c.1070T=	NP_001257376.1:p.Met357=
NM_001270448.2:c.773T=	NP_001257377.1:p.Met258=