Canonical Allele Identifier: CA383519012

Gene: ACAD8

Linked Data

• dbSNP Id: rs1939945205
• MyVariant Identifiers: chr11:g.134132431G>C (hg19) ; chr11:g.134262537G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262537G>C , CM000673.2:g.134262537G>C	GRCh38
NC_000011.9:g.134132431G>C , CM000673.1:g.134132431G>C	GRCh37
NC_000011.8:g.133637641G>C	NCBI36
NG_015842.1:g.13998G>C , LRG_448:g.13998G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1110G>C MANE Select	ENSP00000281182.5:p.Leu370Phe
ENST00000281182.8:c.1110G>C	ENSP00000281182.4:p.Leu370Phe
ENST00000374752.6:c.729G>C	ENSP00000363884.4:p.Leu243Phe
ENST00000524426.5:c.*840G>C	ENSP00000431310.1:n.*840G>C
ENST00000524502.2:n.110G>C
ENST00000526026.5:c.*799G>C	ENSP00000431532.1:n.*799G>C
ENST00000531338.5:n.1354G>C
ENST00000533387.5:n.2169G>C
NM_014384.2:c.1110G>C , LRG_448t1:c.1110G>C	NP_055199.1:p.Leu370Phe
XM_005271501.2:c.1110G>C	XP_005271558.1:p.Leu370Phe
XM_011542750.1:c.1110G>C	XP_011541052.1:p.Leu370Phe
XR_947819.1:n.1174G>C
XR_947820.1:n.1562G>C
XR_947821.1:n.1319G>C
XR_947822.1:n.1004G>C
XR_947823.1:n.1160G>C
XM_005271505.4:c.*1375G>C	XP_005271562.1:n.*1375G>C
XM_011542750.3:c.1110G>C	XP_011541052.1:p.Leu370Phe
XM_017017542.2:c.1110G>C	XP_016873031.1:p.Leu370Phe
XM_017017543.2:c.1110G>C	XP_016873032.1:p.Leu370Phe
XM_017017544.2:c.*79G>C	XP_016873033.1:n.*79G>C
XM_017017545.2:c.*322G>C	XP_016873034.1:n.*322G>C
XM_017017546.2:c.816G>C	XP_016873035.1:p.Leu272Phe
XM_017017547.2:c.816G>C	XP_016873036.1:p.Leu272Phe
XM_017017548.2:c.*1746G>C	XP_016873037.1:n.*1746G>C
XM_017017549.2:c.*1520G>C	XP_016873038.1:n.*1520G>C
XM_024448437.1:c.*257G>C	XP_024304205.1:n.*257G>C
XM_024448438.1:c.729G>C	XP_024304206.1:p.Leu243Phe
NM_014384.3:c.1110G>C MANE Select	NP_055199.1:p.Leu370Phe