Canonical Allele Identifier: CA6373237

Gene: ACAD8

Linked Data

• dbSNP Id: rs370844523
• ExAC: 11:134132451 G / T
• gnomAD v2: 11-134132451-G-T
• gnomAD v4: 11-134262557-G-T
• MyVariant Identifiers: chr11:g.134132451G>T (hg19) ; chr11:g.134262557G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262557G>T , CM000673.2:g.134262557G>T	GRCh38
NC_000011.9:g.134132451G>T , CM000673.1:g.134132451G>T	GRCh37
NC_000011.8:g.133637661G>T	NCBI36
NG_015842.1:g.14018G>T , LRG_448:g.14018G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000281182.9:c.1130G>T MANE Select	ENSP00000281182.5:p.Gly377Val
ENST00000281182.8:c.1130G>T	ENSP00000281182.4:p.Gly377Val
ENST00000374752.6:c.749G>T	ENSP00000363884.4:p.Gly250Val
ENST00000524426.5:c.*860G>T	ENSP00000431310.1:n.*860G>T
ENST00000524502.2:n.130G>T
ENST00000526026.5:c.*819G>T	ENSP00000431532.1:n.*819G>T
ENST00000531338.5:n.1374G>T
ENST00000533387.5:n.2189G>T
NM_014384.2:c.1130G>T , LRG_448t1:c.1130G>T	NP_055199.1:p.Gly377Val
XM_005271501.2:c.1130G>T	XP_005271558.1:p.Gly377Val
XM_011542750.1:c.1130G>T	XP_011541052.1:p.Gly377Val
XR_947819.1:n.1194G>T
XR_947820.1:n.1582G>T
XR_947821.1:n.1339G>T
XR_947822.1:n.1024G>T
XR_947823.1:n.1180G>T
XM_005271505.4:c.*1395G>T	XP_005271562.1:n.*1395G>T
XM_011542750.3:c.1130G>T	XP_011541052.1:p.Gly377Val
XM_017017542.2:c.1130G>T	XP_016873031.1:p.Gly377Val
XM_017017543.2:c.1130G>T	XP_016873032.1:p.Gly377Val
XM_017017544.2:c.*99G>T	XP_016873033.1:n.*99G>T
XM_017017545.2:c.*342G>T	XP_016873034.1:n.*342G>T
XM_017017546.2:c.836G>T	XP_016873035.1:p.Gly279Val
XM_017017547.2:c.836G>T	XP_016873036.1:p.Gly279Val
XM_017017548.2:c.*1766G>T	XP_016873037.1:n.*1766G>T
XM_017017549.2:c.*1540G>T	XP_016873038.1:n.*1540G>T
XM_024448437.1:c.*277G>T	XP_024304205.1:n.*277G>T
XM_024448438.1:c.749G>T	XP_024304206.1:p.Gly250Val
NM_014384.3:c.1130G>T MANE Select	NP_055199.1:p.Gly377Val