Canonical Allele Identifier: CA383519411

Gene: ACAD8

Linked Data

• gnomAD v4: 11-134262616-C-A
• MyVariant Identifiers: chr11:g.134132510C>A (hg19) ; chr11:g.134262616C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262616C>A , CM000673.2:g.134262616C>A	GRCh38
NC_000011.9:g.134132510C>A , CM000673.1:g.134132510C>A	GRCh37
NC_000011.8:g.133637720C>A	NCBI36
NG_015842.1:g.14077C>A , LRG_448:g.14077C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1189C>A MANE Select	ENSP00000281182.5:p.Leu397Ile
ENST00000281182.8:c.1189C>A	ENSP00000281182.4:p.Leu397Ile
ENST00000374752.6:c.808C>A	ENSP00000363884.4:p.Leu270Ile
ENST00000524502.2:n.189C>A
ENST00000526026.5:c.*878C>A	ENSP00000431532.1:n.*878C>A
ENST00000531338.5:n.1433C>A
ENST00000533387.5:n.2248C>A
NM_014384.2:c.1189C>A , LRG_448t1:c.1189C>A	NP_055199.1:p.Leu397Ile
XM_005271501.2:c.1189C>A	XP_005271558.1:p.Leu397Ile
XM_011542750.1:c.1189C>A	XP_011541052.1:p.Leu397Ile
XR_947819.1:n.1253C>A
XR_947820.1:n.1641C>A
XR_947822.1:n.1083C>A
XR_947823.1:n.1239C>A
XM_005271505.4:c.*1454C>A	XP_005271562.1:n.*1454C>A
XM_011542750.3:c.1189C>A	XP_011541052.1:p.Leu397Ile
XM_017017542.2:c.1189C>A	XP_016873031.1:p.Leu397Ile
XM_017017543.2:c.1189C>A	XP_016873032.1:p.Leu397Ile
XM_017017544.2:c.*158C>A	XP_016873033.1:n.*158C>A
XM_017017545.2:c.*401C>A	XP_016873034.1:n.*401C>A
XM_017017546.2:c.895C>A	XP_016873035.1:p.Leu299Ile
XM_017017547.2:c.895C>A	XP_016873036.1:p.Leu299Ile
XM_017017548.2:c.*1825C>A	XP_016873037.1:n.*1825C>A
XM_017017549.2:c.*1599C>A	XP_016873038.1:n.*1599C>A
XM_024448437.1:c.*336C>A	XP_024304205.1:n.*336C>A
XM_024448438.1:c.808C>A	XP_024304206.1:p.Leu270Ile
NM_014384.3:c.1189C>A MANE Select	NP_055199.1:p.Leu397Ile