Canonical Allele Identifier: CA2245700100

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221560T= , CM000679.2:g.7221560T=	GRCh38
NC_000017.10:g.7124879T= , CM000679.1:g.7124879T=	GRCh37
NC_000017.9:g.7065603T=	NCBI36
NG_007975.1:g.6727T=
NG_008391.2:g.3491A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.500T= MANE Select	ENSP00000349297.5:p.Val167=
ENST00000322910.9:c.*455T=	ENSP00000325395.5:n.*455T=
ENST00000350303.9:c.434T=	ENSP00000344152.5:p.Val145=
ENST00000356839.9:c.500T=	ENSP00000349297.5:p.Val167=
ENST00000543245.6:c.569T=	ENSP00000438689.2:p.Val190=
ENST00000577191.5:n.577T=
ENST00000577433.5:n.708T=
ENST00000577857.5:n.316T=
ENST00000579286.5:n.681T=
ENST00000579886.2:c.338T=	ENSP00000463246.1:p.Val113=
ENST00000580365.1:n.231T=
ENST00000581378.5:c.218T=
ENST00000581562.5:n.525-392T=
ENST00000582166.1:n.481T=
ENST00000583312.5:c.500T=	ENSP00000467920.1:p.Val167=
ENST00000583760.1:n.282T=
NM_000018.3:c.500T=	NP_000009.1:p.Val167=
NM_001033859.2:c.434T=	NP_001029031.1:p.Val145=
NM_001270447.1:c.569T=	NP_001257376.1:p.Val190=
NM_001270448.1:c.272T=	NP_001257377.1:p.Val91=
XM_006721516.2:c.500T=	XP_006721579.2:p.Val167=
XM_011523829.1:c.500T=	XP_011522131.1:p.Val167=
XM_011523830.1:c.500T=	XP_011522132.1:p.Val167=
XR_934021.1:n.607T=
XR_934022.1:n.607T=
XR_934023.1:n.607T=
XM_006721516.3:c.500T=	XP_006721579.2:p.Val167=
XM_011523829.2:c.500T=	XP_011522131.1:p.Val167=
XM_011523830.2:c.500T=	XP_011522132.1:p.Val167=
XM_024450741.1:c.500T=	XP_024306509.1:p.Val167=
XR_934021.2:n.559T=
XR_934022.2:n.559T=
XR_934023.2:n.559T=
NM_000018.4:c.500T= MANE Select	NP_000009.1:p.Val167=
NM_001033859.3:c.434T=	NP_001029031.1:p.Val145=
NM_001270447.2:c.569T=	NP_001257376.1:p.Val190=
NM_001270448.2:c.272T=	NP_001257377.1:p.Val91=