Canonical Allele Identifier: CA477723588

Gene: ACAD8

Linked Data

• MyVariant Identifiers: chr11:g.134132512A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262618A>T , CM000673.2:g.134262618A>T	GRCh38
NC_000011.9:g.134132512A>T , CM000673.1:g.134132512A>T	GRCh37
NC_000011.8:g.133637722A>T	NCBI36
NG_015842.1:g.14079A>T , LRG_448:g.14079A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1191A>T MANE Select	ENSP00000281182.5:p.Leu397=
ENST00000281182.8:c.1191A>T	ENSP00000281182.4:p.Leu397=
ENST00000374752.6:c.810A>T	ENSP00000363884.4:p.Leu270=
ENST00000524502.2:n.191A>T
ENST00000526026.5:c.*880A>T	ENSP00000431532.1:n.*880A>T
ENST00000531338.5:n.1435A>T
ENST00000533387.5:n.2250A>T
NM_014384.2:c.1191A>T , LRG_448t1:c.1191A>T	NP_055199.1:p.Leu397=
XM_005271501.2:c.1191A>T	XP_005271558.1:p.Leu397=
XM_011542750.1:c.1191A>T	XP_011541052.1:p.Leu397=
XR_947819.1:n.1255A>T
XR_947820.1:n.1643A>T
XR_947822.1:n.1085A>T
XR_947823.1:n.1241A>T
XM_005271505.4:c.*1456A>T	XP_005271562.1:n.*1456A>T
XM_011542750.3:c.1191A>T	XP_011541052.1:p.Leu397=
XM_017017542.2:c.1191A>T	XP_016873031.1:p.Leu397=
XM_017017543.2:c.1191A>T	XP_016873032.1:p.Leu397=
XM_017017544.2:c.*160A>T	XP_016873033.1:n.*160A>T
XM_017017545.2:c.*403A>T	XP_016873034.1:n.*403A>T
XM_017017546.2:c.897A>T	XP_016873035.1:p.Leu299=
XM_017017547.2:c.897A>T	XP_016873036.1:p.Leu299=
XM_017017548.2:c.*1827A>T	XP_016873037.1:n.*1827A>T
XM_017017549.2:c.*1601A>T	XP_016873038.1:n.*1601A>T
XM_024448437.1:c.*338A>T	XP_024304205.1:n.*338A>T
XM_024448438.1:c.810A>T	XP_024304206.1:p.Leu270=
NM_014384.3:c.1191A>T MANE Select	NP_055199.1:p.Leu397=