Canonical Allele Identifier: CA383519109

Gene: ACAD8

Linked Data

• MyVariant Identifiers: chr11:g.134132449C>A (hg19) ; chr11:g.134262555C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262555C>A , CM000673.2:g.134262555C>A	GRCh38
NC_000011.9:g.134132449C>A , CM000673.1:g.134132449C>A	GRCh37
NC_000011.8:g.133637659C>A	NCBI36
NG_015842.1:g.14016C>A , LRG_448:g.14016C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1128C>A MANE Select	ENSP00000281182.5:p.Tyr376Ter
ENST00000281182.8:c.1128C>A	ENSP00000281182.4:p.Tyr376Ter
ENST00000374752.6:c.747C>A	ENSP00000363884.4:p.Tyr249Ter
ENST00000524426.5:c.*858C>A	ENSP00000431310.1:n.*858C>A
ENST00000524502.2:n.128C>A
ENST00000526026.5:c.*817C>A	ENSP00000431532.1:n.*817C>A
ENST00000531338.5:n.1372C>A
ENST00000533387.5:n.2187C>A
NM_014384.2:c.1128C>A , LRG_448t1:c.1128C>A	NP_055199.1:p.Tyr376Ter
XM_005271501.2:c.1128C>A	XP_005271558.1:p.Tyr376Ter
XM_011542750.1:c.1128C>A	XP_011541052.1:p.Tyr376Ter
XR_947819.1:n.1192C>A
XR_947820.1:n.1580C>A
XR_947821.1:n.1337C>A
XR_947822.1:n.1022C>A
XR_947823.1:n.1178C>A
XM_005271505.4:c.*1393C>A	XP_005271562.1:n.*1393C>A
XM_011542750.3:c.1128C>A	XP_011541052.1:p.Tyr376Ter
XM_017017542.2:c.1128C>A	XP_016873031.1:p.Tyr376Ter
XM_017017543.2:c.1128C>A	XP_016873032.1:p.Tyr376Ter
XM_017017544.2:c.*97C>A	XP_016873033.1:n.*97C>A
XM_017017545.2:c.*340C>A	XP_016873034.1:n.*340C>A
XM_017017546.2:c.834C>A	XP_016873035.1:p.Tyr278Ter
XM_017017547.2:c.834C>A	XP_016873036.1:p.Tyr278Ter
XM_017017548.2:c.*1764C>A	XP_016873037.1:n.*1764C>A
XM_017017549.2:c.*1538C>A	XP_016873038.1:n.*1538C>A
XM_024448437.1:c.*275C>A	XP_024304205.1:n.*275C>A
XM_024448438.1:c.747C>A	XP_024304206.1:p.Tyr249Ter
NM_014384.3:c.1128C>A MANE Select	NP_055199.1:p.Tyr376Ter