Canonical Allele Identifier: CA383515611

Gene: ACAD8

Linked Data

• COSMIC: COSM4855245 ; COSM4855246
• MyVariant Identifiers: chr11:g.134128484G>T (hg19) ; chr11:g.134258590G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134258590G>T , CM000673.2:g.134258590G>T	GRCh38
NC_000011.9:g.134128484G>T , CM000673.1:g.134128484G>T	GRCh37
NC_000011.8:g.133633694G>T	NCBI36
NG_015842.1:g.10051G>T , LRG_448:g.10051G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000281182.9:c.456G>T MANE Select	ENSP00000281182.5:p.Met152Ile
ENST00000281182.8:c.456G>T	ENSP00000281182.4:p.Met152Ile
ENST00000374752.6:c.110-418G>T	ENSP00000363884.4:n.110-418G>T
ENST00000524426.5:c.*55G>T	ENSP00000431310.1:n.*55G>T
ENST00000524547.5:n.94-418G>T
ENST00000526026.5:c.*145G>T	ENSP00000431532.1:n.*145G>T
ENST00000527082.5:n.310G>T
ENST00000527665.5:n.844G>T
ENST00000528325.5:n.285G>T
ENST00000530533.5:n.319G>T
ENST00000531338.5:n.312G>T
ENST00000533387.5:n.217G>T
ENST00000534240.5:n.217G>T
ENST00000534433.5:n.423-418G>T
NM_014384.2:c.456G>T , LRG_448t1:c.456G>T	NP_055199.1:p.Met152Ile
XM_005271501.2:c.456G>T	XP_005271558.1:p.Met152Ile
XM_005271505.2:c.456G>T	XP_005271562.1:p.Met152Ile
XM_011542750.1:c.456G>T	XP_011541052.1:p.Met152Ile
XR_947819.1:n.520G>T
XR_947820.1:n.520G>T
XR_947821.1:n.520G>T
XR_947822.1:n.350G>T
XR_947823.1:n.506G>T
XM_005271505.4:c.456G>T	XP_005271562.1:p.Met152Ile
XM_011542750.3:c.456G>T	XP_011541052.1:p.Met152Ile
XM_017017542.2:c.456G>T	XP_016873031.1:p.Met152Ile
XM_017017543.2:c.456G>T	XP_016873032.1:p.Met152Ile
XM_017017544.2:c.456G>T	XP_016873033.1:p.Met152Ile
XM_017017545.2:c.456G>T	XP_016873034.1:p.Met152Ile
XM_017017546.2:c.162G>T	XP_016873035.1:p.Met54Ile
XM_017017547.2:c.162G>T	XP_016873036.1:p.Met54Ile
XM_017017548.2:c.456G>T	XP_016873037.1:p.Met152Ile
XM_017017549.2:c.456G>T	XP_016873038.1:p.Met152Ile
XM_024448437.1:c.456G>T	XP_024304205.1:p.Met152Ile
XM_024448438.1:c.75G>T	XP_024304206.1:p.Met25Ile
NM_014384.3:c.456G>T MANE Select	NP_055199.1:p.Met152Ile