Canonical Allele Identifier: CA383519400

Gene: ACAD8

Linked Data

• MyVariant Identifiers: chr11:g.134132507A>C (hg19) ; chr11:g.134262613A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262613A>C , CM000673.2:g.134262613A>C	GRCh38
NC_000011.9:g.134132507A>C , CM000673.1:g.134132507A>C	GRCh37
NC_000011.8:g.133637717A>C	NCBI36
NG_015842.1:g.14074A>C , LRG_448:g.14074A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1186A>C MANE Select	ENSP00000281182.5:p.Ile396Leu
ENST00000281182.8:c.1186A>C	ENSP00000281182.4:p.Ile396Leu
ENST00000374752.6:c.805A>C	ENSP00000363884.4:p.Ile269Leu
ENST00000524502.2:n.186A>C
ENST00000526026.5:c.*875A>C	ENSP00000431532.1:n.*875A>C
ENST00000531338.5:n.1430A>C
ENST00000533387.5:n.2245A>C
NM_014384.2:c.1186A>C , LRG_448t1:c.1186A>C	NP_055199.1:p.Ile396Leu
XM_005271501.2:c.1186A>C	XP_005271558.1:p.Ile396Leu
XM_011542750.1:c.1186A>C	XP_011541052.1:p.Ile396Leu
XR_947819.1:n.1250A>C
XR_947820.1:n.1638A>C
XR_947822.1:n.1080A>C
XR_947823.1:n.1236A>C
XM_005271505.4:c.*1451A>C	XP_005271562.1:n.*1451A>C
XM_011542750.3:c.1186A>C	XP_011541052.1:p.Ile396Leu
XM_017017542.2:c.1186A>C	XP_016873031.1:p.Ile396Leu
XM_017017543.2:c.1186A>C	XP_016873032.1:p.Ile396Leu
XM_017017544.2:c.*155A>C	XP_016873033.1:n.*155A>C
XM_017017545.2:c.*398A>C	XP_016873034.1:n.*398A>C
XM_017017546.2:c.892A>C	XP_016873035.1:p.Ile298Leu
XM_017017547.2:c.892A>C	XP_016873036.1:p.Ile298Leu
XM_017017548.2:c.*1822A>C	XP_016873037.1:n.*1822A>C
XM_017017549.2:c.*1596A>C	XP_016873038.1:n.*1596A>C
XM_024448437.1:c.*333A>C	XP_024304205.1:n.*333A>C
XM_024448438.1:c.805A>C	XP_024304206.1:p.Ile269Leu
NM_014384.3:c.1186A>C MANE Select	NP_055199.1:p.Ile396Leu