Canonical Allele Identifier: CA3223488217

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223990T= , CM000679.2:g.7223990T=	GRCh38
NC_000017.10:g.7127309T= , CM000679.1:g.7127309T=	GRCh37
NC_000017.9:g.7068033T=	NCBI36
NG_007975.1:g.9157T=
NG_008391.2:g.1061A=
NG_033038.1:g.15555A=

Transcript Alleles

HGVS	Amino-acid Change
NM_000018.4:c.1355T= MANE Select	NP_000009.1:p.Leu452=
ENST00000356839.10:c.1355T= MANE Select	ENSP00000349297.5:p.Leu452=
NM_000018.3:c.1355T=	NP_000009.1:p.Leu452=
NM_001033859.2:c.1289T=	NP_001029031.1:p.Leu430=
NM_001033859.3:c.1289T=	NP_001029031.1:p.Leu430=
NM_001270447.1:c.1424T=	NP_001257376.1:p.Leu475=
NM_001270447.2:c.1424T=	NP_001257376.1:p.Leu475=
NM_001270448.1:c.1127T=	NP_001257377.1:p.Leu376=
NM_001270448.2:c.1127T=	NP_001257377.1:p.Leu376=
ENST00000322910.9:c.*1310T=	ENSP00000325395.5:n.*1310T=
ENST00000350303.9:c.1289T=	ENSP00000344152.5:p.Leu430=
ENST00000356839.9:c.1355T=	ENSP00000349297.5:p.Leu452=
ENST00000542255.6:c.213T=
ENST00000543245.6:c.1424T=	ENSP00000438689.2:p.Leu475=
ENST00000578711.1:n.486T=
ENST00000579425.5:n.471T=
ENST00000579546.1:c.192T=
ENST00000579894.5:n.66T=
ENST00000583074.5:n.74T=
ENST00000583850.5:n.130T=
ENST00000583858.5:c.384T=
ENST00000585203.6:n.546T=
XM_006721516.2:c.1355T=	XP_006721579.2:p.Leu452=
XM_006721516.3:c.1355T=	XP_006721579.2:p.Leu452=
XM_011523829.1:c.1355T=	XP_011522131.1:p.Leu452=
XM_011523829.2:c.1355T=	XP_011522131.1:p.Leu452=
XM_011523830.1:c.1355T=	XP_011522132.1:p.Leu452=
XM_011523830.2:c.1355T=	XP_011522132.1:p.Leu452=
XM_024450741.1:c.1355T=	XP_024306509.1:p.Leu452=
XR_934021.1:n.1462T=
XR_934021.2:n.1414T=
XR_934022.1:n.1462T=
XR_934022.2:n.1414T=
XR_934023.1:n.1462T=
XR_934023.2:n.1414T=