Canonical Allele Identifier: CA383519185

Gene: ACAD8

Linked Data

• gnomAD v4: 11-134262568-G-T
• MyVariant Identifiers: chr11:g.134132462G>T (hg19) ; chr11:g.134262568G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262568G>T , CM000673.2:g.134262568G>T	GRCh38
NC_000011.9:g.134132462G>T , CM000673.1:g.134132462G>T	GRCh37
NC_000011.8:g.133637672G>T	NCBI36
NG_015842.1:g.14029G>T , LRG_448:g.14029G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1141G>T MANE Select	ENSP00000281182.5:p.Asp381Tyr
ENST00000281182.8:c.1141G>T	ENSP00000281182.4:p.Asp381Tyr
ENST00000374752.6:c.760G>T	ENSP00000363884.4:p.Asp254Tyr
ENST00000524426.5:c.*871G>T	ENSP00000431310.1:n.*871G>T
ENST00000524502.2:n.141G>T
ENST00000526026.5:c.*830G>T	ENSP00000431532.1:n.*830G>T
ENST00000531338.5:n.1385G>T
ENST00000533387.5:n.2200G>T
NM_014384.2:c.1141G>T , LRG_448t1:c.1141G>T	NP_055199.1:p.Asp381Tyr
XM_005271501.2:c.1141G>T	XP_005271558.1:p.Asp381Tyr
XM_011542750.1:c.1141G>T	XP_011541052.1:p.Asp381Tyr
XR_947819.1:n.1205G>T
XR_947820.1:n.1593G>T
XR_947821.1:n.1350G>T
XR_947822.1:n.1035G>T
XR_947823.1:n.1191G>T
XM_005271505.4:c.*1406G>T	XP_005271562.1:n.*1406G>T
XM_011542750.3:c.1141G>T	XP_011541052.1:p.Asp381Tyr
XM_017017542.2:c.1141G>T	XP_016873031.1:p.Asp381Tyr
XM_017017543.2:c.1141G>T	XP_016873032.1:p.Asp381Tyr
XM_017017544.2:c.*110G>T	XP_016873033.1:n.*110G>T
XM_017017545.2:c.*353G>T	XP_016873034.1:n.*353G>T
XM_017017546.2:c.847G>T	XP_016873035.1:p.Asp283Tyr
XM_017017547.2:c.847G>T	XP_016873036.1:p.Asp283Tyr
XM_017017548.2:c.*1777G>T	XP_016873037.1:n.*1777G>T
XM_017017549.2:c.*1551G>T	XP_016873038.1:n.*1551G>T
XM_024448437.1:c.*288G>T	XP_024304205.1:n.*288G>T
XM_024448438.1:c.760G>T	XP_024304206.1:p.Asp254Tyr
NM_014384.3:c.1141G>T MANE Select	NP_055199.1:p.Asp381Tyr