Canonical Allele Identifier: CA6373236

Gene: ACAD8

Linked Data

• ClinVar Variation Id: 1121965
• ClinVar RCV Id: RCV001452424
• dbSNP Id: rs374692738
• ExAC: 11:134132449 C / T
• gnomAD v2: 11-134132449-C-T
• gnomAD v3: 11-134262555-C-T
• gnomAD v4: 11-134262555-C-T
• MyVariant Identifiers: chr11:g.134132449C>T (hg19) ; chr11:g.134262555C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262555C>T , CM000673.2:g.134262555C>T	GRCh38
NC_000011.9:g.134132449C>T , CM000673.1:g.134132449C>T	GRCh37
NC_000011.8:g.133637659C>T	NCBI36
NG_015842.1:g.14016C>T , LRG_448:g.14016C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1128C>T MANE Select	ENSP00000281182.5:p.Tyr376=
ENST00000281182.8:c.1128C>T	ENSP00000281182.4:p.Tyr376=
ENST00000374752.6:c.747C>T	ENSP00000363884.4:p.Tyr249=
ENST00000524426.5:c.*858C>T	ENSP00000431310.1:n.*858C>T
ENST00000524502.2:n.128C>T
ENST00000526026.5:c.*817C>T	ENSP00000431532.1:n.*817C>T
ENST00000531338.5:n.1372C>T
ENST00000533387.5:n.2187C>T
NM_014384.2:c.1128C>T , LRG_448t1:c.1128C>T	NP_055199.1:p.Tyr376=
XM_005271501.2:c.1128C>T	XP_005271558.1:p.Tyr376=
XM_011542750.1:c.1128C>T	XP_011541052.1:p.Tyr376=
XR_947819.1:n.1192C>T
XR_947820.1:n.1580C>T
XR_947821.1:n.1337C>T
XR_947822.1:n.1022C>T
XR_947823.1:n.1178C>T
XM_005271505.4:c.*1393C>T	XP_005271562.1:n.*1393C>T
XM_011542750.3:c.1128C>T	XP_011541052.1:p.Tyr376=
XM_017017542.2:c.1128C>T	XP_016873031.1:p.Tyr376=
XM_017017543.2:c.1128C>T	XP_016873032.1:p.Tyr376=
XM_017017544.2:c.*97C>T	XP_016873033.1:n.*97C>T
XM_017017545.2:c.*340C>T	XP_016873034.1:n.*340C>T
XM_017017546.2:c.834C>T	XP_016873035.1:p.Tyr278=
XM_017017547.2:c.834C>T	XP_016873036.1:p.Tyr278=
XM_017017548.2:c.*1764C>T	XP_016873037.1:n.*1764C>T
XM_017017549.2:c.*1538C>T	XP_016873038.1:n.*1538C>T
XM_024448437.1:c.*275C>T	XP_024304205.1:n.*275C>T
XM_024448438.1:c.747C>T	XP_024304206.1:p.Tyr249=
NM_014384.3:c.1128C>T MANE Select	NP_055199.1:p.Tyr376=