Canonical Allele Identifier: CA383519196

Gene: ACAD8

Linked Data

• MyVariant Identifiers: chr11:g.134132464T>G (hg19) ; chr11:g.134262570T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262570T>G , CM000673.2:g.134262570T>G	GRCh38
NC_000011.9:g.134132464T>G , CM000673.1:g.134132464T>G	GRCh37
NC_000011.8:g.133637674T>G	NCBI36
NG_015842.1:g.14031T>G , LRG_448:g.14031T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1143T>G MANE Select	ENSP00000281182.5:p.Asp381Glu
ENST00000281182.8:c.1143T>G	ENSP00000281182.4:p.Asp381Glu
ENST00000374752.6:c.762T>G	ENSP00000363884.4:p.Asp254Glu
ENST00000524426.5:c.*873T>G	ENSP00000431310.1:n.*873T>G
ENST00000524502.2:n.143T>G
ENST00000526026.5:c.*832T>G	ENSP00000431532.1:n.*832T>G
ENST00000531338.5:n.1387T>G
ENST00000533387.5:n.2202T>G
NM_014384.2:c.1143T>G , LRG_448t1:c.1143T>G	NP_055199.1:p.Asp381Glu
XM_005271501.2:c.1143T>G	XP_005271558.1:p.Asp381Glu
XM_011542750.1:c.1143T>G	XP_011541052.1:p.Asp381Glu
XR_947819.1:n.1207T>G
XR_947820.1:n.1595T>G
XR_947821.1:n.1352T>G
XR_947822.1:n.1037T>G
XR_947823.1:n.1193T>G
XM_005271505.4:c.*1408T>G	XP_005271562.1:n.*1408T>G
XM_011542750.3:c.1143T>G	XP_011541052.1:p.Asp381Glu
XM_017017542.2:c.1143T>G	XP_016873031.1:p.Asp381Glu
XM_017017543.2:c.1143T>G	XP_016873032.1:p.Asp381Glu
XM_017017544.2:c.*112T>G	XP_016873033.1:n.*112T>G
XM_017017545.2:c.*355T>G	XP_016873034.1:n.*355T>G
XM_017017546.2:c.849T>G	XP_016873035.1:p.Asp283Glu
XM_017017547.2:c.849T>G	XP_016873036.1:p.Asp283Glu
XM_017017548.2:c.*1779T>G	XP_016873037.1:n.*1779T>G
XM_017017549.2:c.*1553T>G	XP_016873038.1:n.*1553T>G
XM_024448437.1:c.*290T>G	XP_024304205.1:n.*290T>G
XM_024448438.1:c.762T>G	XP_024304206.1:p.Asp254Glu
NM_014384.3:c.1143T>G MANE Select	NP_055199.1:p.Asp381Glu