Canonical Allele Identifier: CA383518916

Gene: ACAD8

Linked Data

• MyVariant Identifiers: chr11:g.134132414A>T (hg19) ; chr11:g.134262520A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262520A>T , CM000673.2:g.134262520A>T	GRCh38
NC_000011.9:g.134132414A>T , CM000673.1:g.134132414A>T	GRCh37
NC_000011.8:g.133637624A>T	NCBI36
NG_015842.1:g.13981A>T , LRG_448:g.13981A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1093A>T MANE Select	ENSP00000281182.5:p.Ile365Phe
ENST00000281182.8:c.1093A>T	ENSP00000281182.4:p.Ile365Phe
ENST00000374752.6:c.712A>T	ENSP00000363884.4:p.Ile238Phe
ENST00000524426.5:c.*823A>T	ENSP00000431310.1:n.*823A>T
ENST00000524502.2:n.93A>T
ENST00000524547.5:n.696A>T
ENST00000526026.5:c.*782A>T	ENSP00000431532.1:n.*782A>T
ENST00000531338.5:n.1337A>T
ENST00000533387.5:n.2152A>T
NM_014384.2:c.1093A>T , LRG_448t1:c.1093A>T	NP_055199.1:p.Ile365Phe
XM_005271501.2:c.1093A>T	XP_005271558.1:p.Ile365Phe
XM_011542750.1:c.1093A>T	XP_011541052.1:p.Ile365Phe
XR_947819.1:n.1157A>T
XR_947820.1:n.1545A>T
XR_947821.1:n.1302A>T
XR_947822.1:n.987A>T
XR_947823.1:n.1143A>T
XM_005271505.4:c.*1358A>T	XP_005271562.1:n.*1358A>T
XM_011542750.3:c.1093A>T	XP_011541052.1:p.Ile365Phe
XM_017017542.2:c.1093A>T	XP_016873031.1:p.Ile365Phe
XM_017017543.2:c.1093A>T	XP_016873032.1:p.Ile365Phe
XM_017017544.2:c.*62A>T	XP_016873033.1:n.*62A>T
XM_017017545.2:c.*305A>T	XP_016873034.1:n.*305A>T
XM_017017546.2:c.799A>T	XP_016873035.1:p.Ile267Phe
XM_017017547.2:c.799A>T	XP_016873036.1:p.Ile267Phe
XM_017017548.2:c.*1729A>T	XP_016873037.1:n.*1729A>T
XM_017017549.2:c.*1503A>T	XP_016873038.1:n.*1503A>T
XM_024448437.1:c.*240A>T	XP_024304205.1:n.*240A>T
XM_024448438.1:c.712A>T	XP_024304206.1:p.Ile238Phe
NM_014384.3:c.1093A>T MANE Select	NP_055199.1:p.Ile365Phe