Canonical Allele Identifier: CA383519300

Gene: ACAD8

Linked Data

• MyVariant Identifiers: chr11:g.134132484T>G (hg19) ; chr11:g.134262590T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262590T>G , CM000673.2:g.134262590T>G	GRCh38
NC_000011.9:g.134132484T>G , CM000673.1:g.134132484T>G	GRCh37
NC_000011.8:g.133637694T>G	NCBI36
NG_015842.1:g.14051T>G , LRG_448:g.14051T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1163T>G MANE Select	ENSP00000281182.5:p.Val388Gly
ENST00000281182.8:c.1163T>G	ENSP00000281182.4:p.Val388Gly
ENST00000374752.6:c.782T>G	ENSP00000363884.4:p.Val261Gly
ENST00000524426.5:c.*893T>G	ENSP00000431310.1:n.*893T>G
ENST00000524502.2:n.163T>G
ENST00000526026.5:c.*852T>G	ENSP00000431532.1:n.*852T>G
ENST00000531338.5:n.1407T>G
ENST00000533387.5:n.2222T>G
NM_014384.2:c.1163T>G , LRG_448t1:c.1163T>G	NP_055199.1:p.Val388Gly
XM_005271501.2:c.1163T>G	XP_005271558.1:p.Val388Gly
XM_011542750.1:c.1163T>G	XP_011541052.1:p.Val388Gly
XR_947819.1:n.1227T>G
XR_947820.1:n.1615T>G
XR_947821.1:n.1372T>G
XR_947822.1:n.1057T>G
XR_947823.1:n.1213T>G
XM_005271505.4:c.*1428T>G	XP_005271562.1:n.*1428T>G
XM_011542750.3:c.1163T>G	XP_011541052.1:p.Val388Gly
XM_017017542.2:c.1163T>G	XP_016873031.1:p.Val388Gly
XM_017017543.2:c.1163T>G	XP_016873032.1:p.Val388Gly
XM_017017544.2:c.*132T>G	XP_016873033.1:n.*132T>G
XM_017017545.2:c.*375T>G	XP_016873034.1:n.*375T>G
XM_017017546.2:c.869T>G	XP_016873035.1:p.Val290Gly
XM_017017547.2:c.869T>G	XP_016873036.1:p.Val290Gly
XM_017017548.2:c.*1799T>G	XP_016873037.1:n.*1799T>G
XM_017017549.2:c.*1573T>G	XP_016873038.1:n.*1573T>G
XM_024448437.1:c.*310T>G	XP_024304205.1:n.*310T>G
XM_024448438.1:c.782T>G	XP_024304206.1:p.Val261Gly
NM_014384.3:c.1163T>G MANE Select	NP_055199.1:p.Val388Gly