Canonical Allele Identifier: CA383518999

Gene: ACAD8

Linked Data

• COSMIC: COSM6372505 ; COSM6372506
• MyVariant Identifiers: chr11:g.134132429T>A (hg19) ; chr11:g.134262535T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262535T>A , CM000673.2:g.134262535T>A	GRCh38
NC_000011.9:g.134132429T>A , CM000673.1:g.134132429T>A	GRCh37
NC_000011.8:g.133637639T>A	NCBI36
NG_015842.1:g.13996T>A , LRG_448:g.13996T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1108T>A MANE Select	ENSP00000281182.5:p.Leu370Met
ENST00000281182.8:c.1108T>A	ENSP00000281182.4:p.Leu370Met
ENST00000374752.6:c.727T>A	ENSP00000363884.4:p.Leu243Met
ENST00000524426.5:c.*838T>A	ENSP00000431310.1:n.*838T>A
ENST00000524502.2:n.108T>A
ENST00000526026.5:c.*797T>A	ENSP00000431532.1:n.*797T>A
ENST00000531338.5:n.1352T>A
ENST00000533387.5:n.2167T>A
NM_014384.2:c.1108T>A , LRG_448t1:c.1108T>A	NP_055199.1:p.Leu370Met
XM_005271501.2:c.1108T>A	XP_005271558.1:p.Leu370Met
XM_011542750.1:c.1108T>A	XP_011541052.1:p.Leu370Met
XR_947819.1:n.1172T>A
XR_947820.1:n.1560T>A
XR_947821.1:n.1317T>A
XR_947822.1:n.1002T>A
XR_947823.1:n.1158T>A
XM_005271505.4:c.*1373T>A	XP_005271562.1:n.*1373T>A
XM_011542750.3:c.1108T>A	XP_011541052.1:p.Leu370Met
XM_017017542.2:c.1108T>A	XP_016873031.1:p.Leu370Met
XM_017017543.2:c.1108T>A	XP_016873032.1:p.Leu370Met
XM_017017544.2:c.*77T>A	XP_016873033.1:n.*77T>A
XM_017017545.2:c.*320T>A	XP_016873034.1:n.*320T>A
XM_017017546.2:c.814T>A	XP_016873035.1:p.Leu272Met
XM_017017547.2:c.814T>A	XP_016873036.1:p.Leu272Met
XM_017017548.2:c.*1744T>A	XP_016873037.1:n.*1744T>A
XM_017017549.2:c.*1518T>A	XP_016873038.1:n.*1518T>A
XM_024448437.1:c.*255T>A	XP_024304205.1:n.*255T>A
XM_024448438.1:c.727T>A	XP_024304206.1:p.Leu243Met
NM_014384.3:c.1108T>A MANE Select	NP_055199.1:p.Leu370Met