Canonical Allele Identifier: CA383519384

Gene: ACAD8

Linked Data

• MyVariant Identifiers: chr11:g.134132502A>T (hg19) ; chr11:g.134262608A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262608A>T , CM000673.2:g.134262608A>T	GRCh38
NC_000011.9:g.134132502A>T , CM000673.1:g.134132502A>T	GRCh37
NC_000011.8:g.133637712A>T	NCBI36
NG_015842.1:g.14069A>T , LRG_448:g.14069A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1181A>T MANE Select	ENSP00000281182.5:p.His394Leu
ENST00000281182.8:c.1181A>T	ENSP00000281182.4:p.His394Leu
ENST00000374752.6:c.800A>T	ENSP00000363884.4:p.His267Leu
ENST00000524426.5:c.*911A>T	ENSP00000431310.1:n.*911A>T
ENST00000524502.2:n.181A>T
ENST00000526026.5:c.*870A>T	ENSP00000431532.1:n.*870A>T
ENST00000531338.5:n.1425A>T
ENST00000533387.5:n.2240A>T
NM_014384.2:c.1181A>T , LRG_448t1:c.1181A>T	NP_055199.1:p.His394Leu
XM_005271501.2:c.1181A>T	XP_005271558.1:p.His394Leu
XM_011542750.1:c.1181A>T	XP_011541052.1:p.His394Leu
XR_947819.1:n.1245A>T
XR_947820.1:n.1633A>T
XR_947822.1:n.1075A>T
XR_947823.1:n.1231A>T
XM_005271505.4:c.*1446A>T	XP_005271562.1:n.*1446A>T
XM_011542750.3:c.1181A>T	XP_011541052.1:p.His394Leu
XM_017017542.2:c.1181A>T	XP_016873031.1:p.His394Leu
XM_017017543.2:c.1181A>T	XP_016873032.1:p.His394Leu
XM_017017544.2:c.*150A>T	XP_016873033.1:n.*150A>T
XM_017017545.2:c.*393A>T	XP_016873034.1:n.*393A>T
XM_017017546.2:c.887A>T	XP_016873035.1:p.His296Leu
XM_017017547.2:c.887A>T	XP_016873036.1:p.His296Leu
XM_017017548.2:c.*1817A>T	XP_016873037.1:n.*1817A>T
XM_017017549.2:c.*1591A>T	XP_016873038.1:n.*1591A>T
XM_024448437.1:c.*328A>T	XP_024304205.1:n.*328A>T
XM_024448438.1:c.800A>T	XP_024304206.1:p.His267Leu
NM_014384.3:c.1181A>T MANE Select	NP_055199.1:p.His394Leu