Canonical Allele Identifier: CA383519326

Gene: ACAD8

Linked Data

• MyVariant Identifiers: chr11:g.134132490A>C (hg19) ; chr11:g.134262596A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262596A>C , CM000673.2:g.134262596A>C	GRCh38
NC_000011.9:g.134132490A>C , CM000673.1:g.134132490A>C	GRCh37
NC_000011.8:g.133637700A>C	NCBI36
NG_015842.1:g.14057A>C , LRG_448:g.14057A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1169A>C MANE Select	ENSP00000281182.5:p.Asp390Ala
ENST00000281182.8:c.1169A>C	ENSP00000281182.4:p.Asp390Ala
ENST00000374752.6:c.788A>C	ENSP00000363884.4:p.Asp263Ala
ENST00000524426.5:c.*899A>C	ENSP00000431310.1:n.*899A>C
ENST00000524502.2:n.169A>C
ENST00000526026.5:c.*858A>C	ENSP00000431532.1:n.*858A>C
ENST00000531338.5:n.1413A>C
ENST00000533387.5:n.2228A>C
NM_014384.2:c.1169A>C , LRG_448t1:c.1169A>C	NP_055199.1:p.Asp390Ala
XM_005271501.2:c.1169A>C	XP_005271558.1:p.Asp390Ala
XM_011542750.1:c.1169A>C	XP_011541052.1:p.Asp390Ala
XR_947819.1:n.1233A>C
XR_947820.1:n.1621A>C
XR_947821.1:n.1378A>C
XR_947822.1:n.1063A>C
XR_947823.1:n.1219A>C
XM_005271505.4:c.*1434A>C	XP_005271562.1:n.*1434A>C
XM_011542750.3:c.1169A>C	XP_011541052.1:p.Asp390Ala
XM_017017542.2:c.1169A>C	XP_016873031.1:p.Asp390Ala
XM_017017543.2:c.1169A>C	XP_016873032.1:p.Asp390Ala
XM_017017544.2:c.*138A>C	XP_016873033.1:n.*138A>C
XM_017017545.2:c.*381A>C	XP_016873034.1:n.*381A>C
XM_017017546.2:c.875A>C	XP_016873035.1:p.Asp292Ala
XM_017017547.2:c.875A>C	XP_016873036.1:p.Asp292Ala
XM_017017548.2:c.*1805A>C	XP_016873037.1:n.*1805A>C
XM_017017549.2:c.*1579A>C	XP_016873038.1:n.*1579A>C
XM_024448437.1:c.*316A>C	XP_024304205.1:n.*316A>C
XM_024448438.1:c.788A>C	XP_024304206.1:p.Asp263Ala
NM_014384.3:c.1169A>C MANE Select	NP_055199.1:p.Asp390Ala