Canonical Allele Identifier: CA383519345

Gene: ACAD8

Linked Data

• MyVariant Identifiers: chr11:g.134132496G>C (hg19) ; chr11:g.134262602G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262602G>C , CM000673.2:g.134262602G>C	GRCh38
NC_000011.9:g.134132496G>C , CM000673.1:g.134132496G>C	GRCh37
NC_000011.8:g.133637706G>C	NCBI36
NG_015842.1:g.14063G>C , LRG_448:g.14063G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1175G>C MANE Select	ENSP00000281182.5:p.Arg392Thr
ENST00000281182.8:c.1175G>C	ENSP00000281182.4:p.Arg392Thr
ENST00000374752.6:c.794G>C	ENSP00000363884.4:p.Arg265Thr
ENST00000524426.5:c.*905G>C	ENSP00000431310.1:n.*905G>C
ENST00000524502.2:n.175G>C
ENST00000526026.5:c.*864G>C	ENSP00000431532.1:n.*864G>C
ENST00000531338.5:n.1419G>C
ENST00000533387.5:n.2234G>C
NM_014384.2:c.1175G>C , LRG_448t1:c.1175G>C	NP_055199.1:p.Arg392Thr
XM_005271501.2:c.1175G>C	XP_005271558.1:p.Arg392Thr
XM_011542750.1:c.1175G>C	XP_011541052.1:p.Arg392Thr
XR_947819.1:n.1239G>C
XR_947820.1:n.1627G>C
XR_947821.1:n.1384G>C
XR_947822.1:n.1069G>C
XR_947823.1:n.1225G>C
XM_005271505.4:c.*1440G>C	XP_005271562.1:n.*1440G>C
XM_011542750.3:c.1175G>C	XP_011541052.1:p.Arg392Thr
XM_017017542.2:c.1175G>C	XP_016873031.1:p.Arg392Thr
XM_017017543.2:c.1175G>C	XP_016873032.1:p.Arg392Thr
XM_017017544.2:c.*144G>C	XP_016873033.1:n.*144G>C
XM_017017545.2:c.*387G>C	XP_016873034.1:n.*387G>C
XM_017017546.2:c.881G>C	XP_016873035.1:p.Arg294Thr
XM_017017547.2:c.881G>C	XP_016873036.1:p.Arg294Thr
XM_017017548.2:c.*1811G>C	XP_016873037.1:n.*1811G>C
XM_017017549.2:c.*1585G>C	XP_016873038.1:n.*1585G>C
XM_024448437.1:c.*322G>C	XP_024304205.1:n.*322G>C
XM_024448438.1:c.794G>C	XP_024304206.1:p.Arg265Thr
NM_014384.3:c.1175G>C MANE Select	NP_055199.1:p.Arg392Thr