Canonical Allele Identifier: CA383518980

Gene: ACAD8

Linked Data

• dbSNP Id: rs750383034
• gnomAD v2: 11-134132424-A-T
• gnomAD v4: 11-134262530-A-T
• MyVariant Identifiers: chr11:g.134132424A>T (hg19) ; chr11:g.134262530A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262530A>T , CM000673.2:g.134262530A>T	GRCh38
NC_000011.9:g.134132424A>T , CM000673.1:g.134132424A>T	GRCh37
NC_000011.8:g.133637634A>T	NCBI36
NG_015842.1:g.13991A>T , LRG_448:g.13991A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1103A>T MANE Select	ENSP00000281182.5:p.Gln368Leu
ENST00000281182.8:c.1103A>T	ENSP00000281182.4:p.Gln368Leu
ENST00000374752.6:c.722A>T	ENSP00000363884.4:p.Gln241Leu
ENST00000524426.5:c.*833A>T	ENSP00000431310.1:n.*833A>T
ENST00000524502.2:n.103A>T
ENST00000526026.5:c.*792A>T	ENSP00000431532.1:n.*792A>T
ENST00000531338.5:n.1347A>T
ENST00000533387.5:n.2162A>T
NM_014384.2:c.1103A>T , LRG_448t1:c.1103A>T	NP_055199.1:p.Gln368Leu
XM_005271501.2:c.1103A>T	XP_005271558.1:p.Gln368Leu
XM_011542750.1:c.1103A>T	XP_011541052.1:p.Gln368Leu
XR_947819.1:n.1167A>T
XR_947820.1:n.1555A>T
XR_947821.1:n.1312A>T
XR_947822.1:n.997A>T
XR_947823.1:n.1153A>T
XM_005271505.4:c.*1368A>T	XP_005271562.1:n.*1368A>T
XM_011542750.3:c.1103A>T	XP_011541052.1:p.Gln368Leu
XM_017017542.2:c.1103A>T	XP_016873031.1:p.Gln368Leu
XM_017017543.2:c.1103A>T	XP_016873032.1:p.Gln368Leu
XM_017017544.2:c.*72A>T	XP_016873033.1:n.*72A>T
XM_017017545.2:c.*315A>T	XP_016873034.1:n.*315A>T
XM_017017546.2:c.809A>T	XP_016873035.1:p.Gln270Leu
XM_017017547.2:c.809A>T	XP_016873036.1:p.Gln270Leu
XM_017017548.2:c.*1739A>T	XP_016873037.1:n.*1739A>T
XM_017017549.2:c.*1513A>T	XP_016873038.1:n.*1513A>T
XM_024448437.1:c.*250A>T	XP_024304205.1:n.*250A>T
XM_024448438.1:c.722A>T	XP_024304206.1:p.Gln241Leu
NM_014384.3:c.1103A>T MANE Select	NP_055199.1:p.Gln368Leu