Canonical Allele Identifier: CA383519401

Gene: ACAD8

Linked Data

• dbSNP Id: rs1488683869
• gnomAD v2: 11-134132507-A-G
• gnomAD v4: 11-134262613-A-G
• MyVariant Identifiers: chr11:g.134132507A>G (hg19) ; chr11:g.134262613A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262613A>G , CM000673.2:g.134262613A>G	GRCh38
NC_000011.9:g.134132507A>G , CM000673.1:g.134132507A>G	GRCh37
NC_000011.8:g.133637717A>G	NCBI36
NG_015842.1:g.14074A>G , LRG_448:g.14074A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1186A>G MANE Select	ENSP00000281182.5:p.Ile396Val
ENST00000281182.8:c.1186A>G	ENSP00000281182.4:p.Ile396Val
ENST00000374752.6:c.805A>G	ENSP00000363884.4:p.Ile269Val
ENST00000524502.2:n.186A>G
ENST00000526026.5:c.*875A>G	ENSP00000431532.1:n.*875A>G
ENST00000531338.5:n.1430A>G
ENST00000533387.5:n.2245A>G
NM_014384.2:c.1186A>G , LRG_448t1:c.1186A>G	NP_055199.1:p.Ile396Val
XM_005271501.2:c.1186A>G	XP_005271558.1:p.Ile396Val
XM_011542750.1:c.1186A>G	XP_011541052.1:p.Ile396Val
XR_947819.1:n.1250A>G
XR_947820.1:n.1638A>G
XR_947822.1:n.1080A>G
XR_947823.1:n.1236A>G
XM_005271505.4:c.*1451A>G	XP_005271562.1:n.*1451A>G
XM_011542750.3:c.1186A>G	XP_011541052.1:p.Ile396Val
XM_017017542.2:c.1186A>G	XP_016873031.1:p.Ile396Val
XM_017017543.2:c.1186A>G	XP_016873032.1:p.Ile396Val
XM_017017544.2:c.*155A>G	XP_016873033.1:n.*155A>G
XM_017017545.2:c.*398A>G	XP_016873034.1:n.*398A>G
XM_017017546.2:c.892A>G	XP_016873035.1:p.Ile298Val
XM_017017547.2:c.892A>G	XP_016873036.1:p.Ile298Val
XM_017017548.2:c.*1822A>G	XP_016873037.1:n.*1822A>G
XM_017017549.2:c.*1596A>G	XP_016873038.1:n.*1596A>G
XM_024448437.1:c.*333A>G	XP_024304205.1:n.*333A>G
XM_024448438.1:c.805A>G	XP_024304206.1:p.Ile269Val
NM_014384.3:c.1186A>G MANE Select	NP_055199.1:p.Ile396Val