Canonical Allele Identifier: CA6373241

Gene: ACAD8

Linked Data

• ClinVar Variation Id: 880204
• ClinVar RCV Id: RCV001108303 ; RCV002558083
• dbSNP Id: rs200234092
• ExAC: 11:134132468 G / A
• gnomAD v2: 11-134132468-G-A
• gnomAD v3: 11-134262574-G-A
• gnomAD v4: 11-134262574-G-A
• COSMIC: COSM3979415
• MyVariant Identifiers: chr11:g.134132468G>A (hg19) ; chr11:g.134262574G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262574G>A , CM000673.2:g.134262574G>A	GRCh38
NC_000011.9:g.134132468G>A , CM000673.1:g.134132468G>A	GRCh37
NC_000011.8:g.133637678G>A	NCBI36
NG_015842.1:g.14035G>A , LRG_448:g.14035G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1147G>A MANE Select	ENSP00000281182.5:p.Ala383Thr
ENST00000281182.8:c.1147G>A	ENSP00000281182.4:p.Ala383Thr
ENST00000374752.6:c.766G>A	ENSP00000363884.4:p.Ala256Thr
ENST00000524426.5:c.*877G>A	ENSP00000431310.1:n.*877G>A
ENST00000524502.2:n.147G>A
ENST00000526026.5:c.*836G>A	ENSP00000431532.1:n.*836G>A
ENST00000531338.5:n.1391G>A
ENST00000533387.5:n.2206G>A
NM_014384.2:c.1147G>A , LRG_448t1:c.1147G>A	NP_055199.1:p.Ala383Thr
XM_005271501.2:c.1147G>A	XP_005271558.1:p.Ala383Thr
XM_011542750.1:c.1147G>A	XP_011541052.1:p.Ala383Thr
XR_947819.1:n.1211G>A
XR_947820.1:n.1599G>A
XR_947821.1:n.1356G>A
XR_947822.1:n.1041G>A
XR_947823.1:n.1197G>A
XM_005271505.4:c.*1412G>A	XP_005271562.1:n.*1412G>A
XM_011542750.3:c.1147G>A	XP_011541052.1:p.Ala383Thr
XM_017017542.2:c.1147G>A	XP_016873031.1:p.Ala383Thr
XM_017017543.2:c.1147G>A	XP_016873032.1:p.Ala383Thr
XM_017017544.2:c.*116G>A	XP_016873033.1:n.*116G>A
XM_017017545.2:c.*359G>A	XP_016873034.1:n.*359G>A
XM_017017546.2:c.853G>A	XP_016873035.1:p.Ala285Thr
XM_017017547.2:c.853G>A	XP_016873036.1:p.Ala285Thr
XM_017017548.2:c.*1783G>A	XP_016873037.1:n.*1783G>A
XM_017017549.2:c.*1557G>A	XP_016873038.1:n.*1557G>A
XM_024448437.1:c.*294G>A	XP_024304205.1:n.*294G>A
XM_024448438.1:c.766G>A	XP_024304206.1:p.Ala256Thr
NM_014384.3:c.1147G>A MANE Select	NP_055199.1:p.Ala383Thr