Canonical Allele Identifier: CA477723552

Gene: ACAD8

Linked Data

• MyVariant Identifiers: chr11:g.134132500C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262606C>T , CM000673.2:g.134262606C>T	GRCh38
NC_000011.9:g.134132500C>T , CM000673.1:g.134132500C>T	GRCh37
NC_000011.8:g.133637710C>T	NCBI36
NG_015842.1:g.14067C>T , LRG_448:g.14067C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1179C>T MANE Select	ENSP00000281182.5:p.Val393=
ENST00000281182.8:c.1179C>T	ENSP00000281182.4:p.Val393=
ENST00000374752.6:c.798C>T	ENSP00000363884.4:p.Val266=
ENST00000524426.5:c.*909C>T	ENSP00000431310.1:n.*909C>T
ENST00000524502.2:n.179C>T
ENST00000526026.5:c.*868C>T	ENSP00000431532.1:n.*868C>T
ENST00000531338.5:n.1423C>T
ENST00000533387.5:n.2238C>T
NM_014384.2:c.1179C>T , LRG_448t1:c.1179C>T	NP_055199.1:p.Val393=
XM_005271501.2:c.1179C>T	XP_005271558.1:p.Val393=
XM_011542750.1:c.1179C>T	XP_011541052.1:p.Val393=
XR_947819.1:n.1243C>T
XR_947820.1:n.1631C>T
XR_947822.1:n.1073C>T
XR_947823.1:n.1229C>T
XM_005271505.4:c.*1444C>T	XP_005271562.1:n.*1444C>T
XM_011542750.3:c.1179C>T	XP_011541052.1:p.Val393=
XM_017017542.2:c.1179C>T	XP_016873031.1:p.Val393=
XM_017017543.2:c.1179C>T	XP_016873032.1:p.Val393=
XM_017017544.2:c.*148C>T	XP_016873033.1:n.*148C>T
XM_017017545.2:c.*391C>T	XP_016873034.1:n.*391C>T
XM_017017546.2:c.885C>T	XP_016873035.1:p.Val295=
XM_017017547.2:c.885C>T	XP_016873036.1:p.Val295=
XM_017017548.2:c.*1815C>T	XP_016873037.1:n.*1815C>T
XM_017017549.2:c.*1589C>T	XP_016873038.1:n.*1589C>T
XM_024448437.1:c.*326C>T	XP_024304205.1:n.*326C>T
XM_024448438.1:c.798C>T	XP_024304206.1:p.Val266=
NM_014384.3:c.1179C>T MANE Select	NP_055199.1:p.Val393=