Canonical Allele Identifier: CA231279868

Gene: ACAD8

Linked Data

• dbSNP Id: rs139792723
• gnomAD v2: 11-134132483-G-T
• gnomAD v4: 11-134262589-G-T
• MyVariant Identifiers: chr11:g.134132483G>T (hg19) ; chr11:g.134262589G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262589G>T , CM000673.2:g.134262589G>T	GRCh38
NC_000011.9:g.134132483G>T , CM000673.1:g.134132483G>T	GRCh37
NC_000011.8:g.133637693G>T	NCBI36
NG_015842.1:g.14050G>T , LRG_448:g.14050G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1162G>T MANE Select	ENSP00000281182.5:p.Val388Leu
ENST00000281182.8:c.1162G>T	ENSP00000281182.4:p.Val388Leu
ENST00000374752.6:c.781G>T	ENSP00000363884.4:p.Val261Leu
ENST00000524426.5:c.*892G>T	ENSP00000431310.1:n.*892G>T
ENST00000524502.2:n.162G>T
ENST00000526026.5:c.*851G>T	ENSP00000431532.1:n.*851G>T
ENST00000531338.5:n.1406G>T
ENST00000533387.5:n.2221G>T
NM_014384.2:c.1162G>T , LRG_448t1:c.1162G>T	NP_055199.1:p.Val388Leu
XM_005271501.2:c.1162G>T	XP_005271558.1:p.Val388Leu
XM_011542750.1:c.1162G>T	XP_011541052.1:p.Val388Leu
XR_947819.1:n.1226G>T
XR_947820.1:n.1614G>T
XR_947821.1:n.1371G>T
XR_947822.1:n.1056G>T
XR_947823.1:n.1212G>T
XM_005271505.4:c.*1427G>T	XP_005271562.1:n.*1427G>T
XM_011542750.3:c.1162G>T	XP_011541052.1:p.Val388Leu
XM_017017542.2:c.1162G>T	XP_016873031.1:p.Val388Leu
XM_017017543.2:c.1162G>T	XP_016873032.1:p.Val388Leu
XM_017017544.2:c.*131G>T	XP_016873033.1:n.*131G>T
XM_017017545.2:c.*374G>T	XP_016873034.1:n.*374G>T
XM_017017546.2:c.868G>T	XP_016873035.1:p.Val290Leu
XM_017017547.2:c.868G>T	XP_016873036.1:p.Val290Leu
XM_017017548.2:c.*1798G>T	XP_016873037.1:n.*1798G>T
XM_017017549.2:c.*1572G>T	XP_016873038.1:n.*1572G>T
XM_024448437.1:c.*309G>T	XP_024304205.1:n.*309G>T
XM_024448438.1:c.781G>T	XP_024304206.1:p.Val261Leu
NM_014384.3:c.1162G>T MANE Select	NP_055199.1:p.Val388Leu