Canonical Allele Identifier: CA477723531

Gene: ACAD8

Linked Data

• MyVariant Identifiers: chr11:g.134132495A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262601A>C , CM000673.2:g.134262601A>C	GRCh38
NC_000011.9:g.134132495A>C , CM000673.1:g.134132495A>C	GRCh37
NC_000011.8:g.133637705A>C	NCBI36
NG_015842.1:g.14062A>C , LRG_448:g.14062A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1174A>C MANE Select	ENSP00000281182.5:p.Arg392=
ENST00000281182.8:c.1174A>C	ENSP00000281182.4:p.Arg392=
ENST00000374752.6:c.793A>C	ENSP00000363884.4:p.Arg265=
ENST00000524426.5:c.*904A>C	ENSP00000431310.1:n.*904A>C
ENST00000524502.2:n.174A>C
ENST00000526026.5:c.*863A>C	ENSP00000431532.1:n.*863A>C
ENST00000531338.5:n.1418A>C
ENST00000533387.5:n.2233A>C
NM_014384.2:c.1174A>C , LRG_448t1:c.1174A>C	NP_055199.1:p.Arg392=
XM_005271501.2:c.1174A>C	XP_005271558.1:p.Arg392=
XM_011542750.1:c.1174A>C	XP_011541052.1:p.Arg392=
XR_947819.1:n.1238A>C
XR_947820.1:n.1626A>C
XR_947821.1:n.1383A>C
XR_947822.1:n.1068A>C
XR_947823.1:n.1224A>C
XM_005271505.4:c.*1439A>C	XP_005271562.1:n.*1439A>C
XM_011542750.3:c.1174A>C	XP_011541052.1:p.Arg392=
XM_017017542.2:c.1174A>C	XP_016873031.1:p.Arg392=
XM_017017543.2:c.1174A>C	XP_016873032.1:p.Arg392=
XM_017017544.2:c.*143A>C	XP_016873033.1:n.*143A>C
XM_017017545.2:c.*386A>C	XP_016873034.1:n.*386A>C
XM_017017546.2:c.880A>C	XP_016873035.1:p.Arg294=
XM_017017547.2:c.880A>C	XP_016873036.1:p.Arg294=
XM_017017548.2:c.*1810A>C	XP_016873037.1:n.*1810A>C
XM_017017549.2:c.*1584A>C	XP_016873038.1:n.*1584A>C
XM_024448437.1:c.*321A>C	XP_024304205.1:n.*321A>C
XM_024448438.1:c.793A>C	XP_024304206.1:p.Arg265=
NM_014384.3:c.1174A>C MANE Select	NP_055199.1:p.Arg392=