Canonical Allele Identifier: CA231279830

Gene: ACAD8

Linked Data

• dbSNP Id: rs965264870
• gnomAD v4: 11-134262583-C-T
• MyVariant Identifiers: chr11:g.134132477C>T (hg19) ; chr11:g.134262583C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262583C>T , CM000673.2:g.134262583C>T	GRCh38
NC_000011.9:g.134132477C>T , CM000673.1:g.134132477C>T	GRCh37
NC_000011.8:g.133637687C>T	NCBI36
NG_015842.1:g.14044C>T , LRG_448:g.14044C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1156C>T MANE Select	ENSP00000281182.5:p.Gln386Ter
ENST00000281182.8:c.1156C>T	ENSP00000281182.4:p.Gln386Ter
ENST00000374752.6:c.775C>T	ENSP00000363884.4:p.Gln259Ter
ENST00000524426.5:c.*886C>T	ENSP00000431310.1:n.*886C>T
ENST00000524502.2:n.156C>T
ENST00000526026.5:c.*845C>T	ENSP00000431532.1:n.*845C>T
ENST00000531338.5:n.1400C>T
ENST00000533387.5:n.2215C>T
NM_014384.2:c.1156C>T , LRG_448t1:c.1156C>T	NP_055199.1:p.Gln386Ter
XM_005271501.2:c.1156C>T	XP_005271558.1:p.Gln386Ter
XM_011542750.1:c.1156C>T	XP_011541052.1:p.Gln386Ter
XR_947819.1:n.1220C>T
XR_947820.1:n.1608C>T
XR_947821.1:n.1365C>T
XR_947822.1:n.1050C>T
XR_947823.1:n.1206C>T
XM_005271505.4:c.*1421C>T	XP_005271562.1:n.*1421C>T
XM_011542750.3:c.1156C>T	XP_011541052.1:p.Gln386Ter
XM_017017542.2:c.1156C>T	XP_016873031.1:p.Gln386Ter
XM_017017543.2:c.1156C>T	XP_016873032.1:p.Gln386Ter
XM_017017544.2:c.*125C>T	XP_016873033.1:n.*125C>T
XM_017017545.2:c.*368C>T	XP_016873034.1:n.*368C>T
XM_017017546.2:c.862C>T	XP_016873035.1:p.Gln288Ter
XM_017017547.2:c.862C>T	XP_016873036.1:p.Gln288Ter
XM_017017548.2:c.*1792C>T	XP_016873037.1:n.*1792C>T
XM_017017549.2:c.*1566C>T	XP_016873038.1:n.*1566C>T
XM_024448437.1:c.*303C>T	XP_024304205.1:n.*303C>T
XM_024448438.1:c.775C>T	XP_024304206.1:p.Gln259Ter
NM_014384.3:c.1156C>T MANE Select	NP_055199.1:p.Gln386Ter