Canonical Allele Identifier: CA2245713937

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224378T= , CM000679.2:g.7224378T=	GRCh38
NC_000017.10:g.7127697T= , CM000679.1:g.7127697T=	GRCh37
NC_000017.9:g.7068421T=	NCBI36
NG_007975.1:g.9545T=
NG_008391.2:g.673A=
NG_033038.1:g.15167A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1590T= MANE Select	ENSP00000349297.5:p.Ser530=
ENST00000322910.9:c.*1545T=	ENSP00000325395.5:n.*1545T=
ENST00000350303.9:c.1524T=	ENSP00000344152.5:p.Ser508=
ENST00000356839.9:c.1590T=	ENSP00000349297.5:p.Ser530=
ENST00000542255.6:c.448T=
ENST00000543245.6:c.1659T=	ENSP00000438689.2:p.Ser553=
ENST00000578319.5:n.85T=
ENST00000578711.1:n.874T=
ENST00000578809.5:n.162T=
ENST00000579391.1:n.198T=
ENST00000579425.5:n.706T=
ENST00000579546.1:c.329T=
ENST00000579894.5:n.377T=
ENST00000582450.1:n.98T=
ENST00000583074.5:n.211T=
ENST00000583850.5:n.365T=
ENST00000583858.5:c.521T=
ENST00000585203.6:n.781T=
NM_000018.3:c.1590T=	NP_000009.1:p.Ser530=
NM_001033859.2:c.1524T=	NP_001029031.1:p.Ser508=
NM_001270447.1:c.1659T=	NP_001257376.1:p.Ser553=
NM_001270448.1:c.1362T=	NP_001257377.1:p.Ser454=
XM_006721516.2:c.1590T=	XP_006721579.2:p.Ser530=
XM_011523829.1:c.1492T=	XP_011522131.1:p.Ser498=
XM_011523830.1:c.1492T=	XP_011522132.1:p.Ser498=
XR_934021.1:n.1697T=
XR_934022.1:n.1599T=
XR_934023.1:n.1599T=
XM_006721516.3:c.1590T=	XP_006721579.2:p.Ser530=
XM_011523829.2:c.1492T=	XP_011522131.1:p.Ser498=
XM_011523830.2:c.1492T=	XP_011522132.1:p.Ser498=
XM_024450741.1:c.1492T=	XP_024306509.1:p.Ser498=
XR_934021.2:n.1649T=
XR_934022.2:n.1551T=
XR_934023.2:n.1551T=
NM_000018.4:c.1590T= MANE Select	NP_000009.1:p.Ser530=
NM_001033859.3:c.1524T=	NP_001029031.1:p.Ser508=
NM_001270447.2:c.1659T=	NP_001257376.1:p.Ser553=
NM_001270448.2:c.1362T=	NP_001257377.1:p.Ser454=