Canonical Allele Identifier: CA383519309

Gene: ACAD8

Linked Data

• gnomAD v4: 11-134262593-G-T
• MyVariant Identifiers: chr11:g.134132487G>T (hg19) ; chr11:g.134262593G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262593G>T , CM000673.2:g.134262593G>T	GRCh38
NC_000011.9:g.134132487G>T , CM000673.1:g.134132487G>T	GRCh37
NC_000011.8:g.133637697G>T	NCBI36
NG_015842.1:g.14054G>T , LRG_448:g.14054G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1166G>T MANE Select	ENSP00000281182.5:p.Arg389Leu
ENST00000281182.8:c.1166G>T	ENSP00000281182.4:p.Arg389Leu
ENST00000374752.6:c.785G>T	ENSP00000363884.4:p.Arg262Leu
ENST00000524426.5:c.*896G>T	ENSP00000431310.1:n.*896G>T
ENST00000524502.2:n.166G>T
ENST00000526026.5:c.*855G>T	ENSP00000431532.1:n.*855G>T
ENST00000531338.5:n.1410G>T
ENST00000533387.5:n.2225G>T
NM_014384.2:c.1166G>T , LRG_448t1:c.1166G>T	NP_055199.1:p.Arg389Leu
XM_005271501.2:c.1166G>T	XP_005271558.1:p.Arg389Leu
XM_011542750.1:c.1166G>T	XP_011541052.1:p.Arg389Leu
XR_947819.1:n.1230G>T
XR_947820.1:n.1618G>T
XR_947821.1:n.1375G>T
XR_947822.1:n.1060G>T
XR_947823.1:n.1216G>T
XM_005271505.4:c.*1431G>T	XP_005271562.1:n.*1431G>T
XM_011542750.3:c.1166G>T	XP_011541052.1:p.Arg389Leu
XM_017017542.2:c.1166G>T	XP_016873031.1:p.Arg389Leu
XM_017017543.2:c.1166G>T	XP_016873032.1:p.Arg389Leu
XM_017017544.2:c.*135G>T	XP_016873033.1:n.*135G>T
XM_017017545.2:c.*378G>T	XP_016873034.1:n.*378G>T
XM_017017546.2:c.872G>T	XP_016873035.1:p.Arg291Leu
XM_017017547.2:c.872G>T	XP_016873036.1:p.Arg291Leu
XM_017017548.2:c.*1802G>T	XP_016873037.1:n.*1802G>T
XM_017017549.2:c.*1576G>T	XP_016873038.1:n.*1576G>T
XM_024448437.1:c.*313G>T	XP_024304205.1:n.*313G>T
XM_024448438.1:c.785G>T	XP_024304206.1:p.Arg262Leu
NM_014384.3:c.1166G>T MANE Select	NP_055199.1:p.Arg389Leu