Canonical Allele Identifier: CA383519147

Gene: ACAD8

Linked Data

• MyVariant Identifiers: chr11:g.134132457T>A (hg19) ; chr11:g.134262563T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262563T>A , CM000673.2:g.134262563T>A	GRCh38
NC_000011.9:g.134132457T>A , CM000673.1:g.134132457T>A	GRCh37
NC_000011.8:g.133637667T>A	NCBI36
NG_015842.1:g.14024T>A , LRG_448:g.14024T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1136T>A MANE Select	ENSP00000281182.5:p.Leu379Gln
ENST00000281182.8:c.1136T>A	ENSP00000281182.4:p.Leu379Gln
ENST00000374752.6:c.755T>A	ENSP00000363884.4:p.Leu252Gln
ENST00000524426.5:c.*866T>A	ENSP00000431310.1:n.*866T>A
ENST00000524502.2:n.136T>A
ENST00000526026.5:c.*825T>A	ENSP00000431532.1:n.*825T>A
ENST00000531338.5:n.1380T>A
ENST00000533387.5:n.2195T>A
NM_014384.2:c.1136T>A , LRG_448t1:c.1136T>A	NP_055199.1:p.Leu379Gln
XM_005271501.2:c.1136T>A	XP_005271558.1:p.Leu379Gln
XM_011542750.1:c.1136T>A	XP_011541052.1:p.Leu379Gln
XR_947819.1:n.1200T>A
XR_947820.1:n.1588T>A
XR_947821.1:n.1345T>A
XR_947822.1:n.1030T>A
XR_947823.1:n.1186T>A
XM_005271505.4:c.*1401T>A	XP_005271562.1:n.*1401T>A
XM_011542750.3:c.1136T>A	XP_011541052.1:p.Leu379Gln
XM_017017542.2:c.1136T>A	XP_016873031.1:p.Leu379Gln
XM_017017543.2:c.1136T>A	XP_016873032.1:p.Leu379Gln
XM_017017544.2:c.*105T>A	XP_016873033.1:n.*105T>A
XM_017017545.2:c.*348T>A	XP_016873034.1:n.*348T>A
XM_017017546.2:c.842T>A	XP_016873035.1:p.Leu281Gln
XM_017017547.2:c.842T>A	XP_016873036.1:p.Leu281Gln
XM_017017548.2:c.*1772T>A	XP_016873037.1:n.*1772T>A
XM_017017549.2:c.*1546T>A	XP_016873038.1:n.*1546T>A
XM_024448437.1:c.*283T>A	XP_024304205.1:n.*283T>A
XM_024448438.1:c.755T>A	XP_024304206.1:p.Leu252Gln
NM_014384.3:c.1136T>A MANE Select	NP_055199.1:p.Leu379Gln