Canonical Allele Identifier: CA477723404

Gene: ACAD8

Linked Data

• MyVariant Identifiers: chr11:g.134132458G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262564G>C , CM000673.2:g.134262564G>C	GRCh38
NC_000011.9:g.134132458G>C , CM000673.1:g.134132458G>C	GRCh37
NC_000011.8:g.133637668G>C	NCBI36
NG_015842.1:g.14025G>C , LRG_448:g.14025G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000281182.9:c.1137G>C MANE Select	ENSP00000281182.5:p.Leu379=
ENST00000281182.8:c.1137G>C	ENSP00000281182.4:p.Leu379=
ENST00000374752.6:c.756G>C	ENSP00000363884.4:p.Leu252=
ENST00000524426.5:c.*867G>C	ENSP00000431310.1:n.*867G>C
ENST00000524502.2:n.137G>C
ENST00000526026.5:c.*826G>C	ENSP00000431532.1:n.*826G>C
ENST00000531338.5:n.1381G>C
ENST00000533387.5:n.2196G>C
NM_014384.2:c.1137G>C , LRG_448t1:c.1137G>C	NP_055199.1:p.Leu379=
XM_005271501.2:c.1137G>C	XP_005271558.1:p.Leu379=
XM_011542750.1:c.1137G>C	XP_011541052.1:p.Leu379=
XR_947819.1:n.1201G>C
XR_947820.1:n.1589G>C
XR_947821.1:n.1346G>C
XR_947822.1:n.1031G>C
XR_947823.1:n.1187G>C
XM_005271505.4:c.*1402G>C	XP_005271562.1:n.*1402G>C
XM_011542750.3:c.1137G>C	XP_011541052.1:p.Leu379=
XM_017017542.2:c.1137G>C	XP_016873031.1:p.Leu379=
XM_017017543.2:c.1137G>C	XP_016873032.1:p.Leu379=
XM_017017544.2:c.*106G>C	XP_016873033.1:n.*106G>C
XM_017017545.2:c.*349G>C	XP_016873034.1:n.*349G>C
XM_017017546.2:c.843G>C	XP_016873035.1:p.Leu281=
XM_017017547.2:c.843G>C	XP_016873036.1:p.Leu281=
XM_017017548.2:c.*1773G>C	XP_016873037.1:n.*1773G>C
XM_017017549.2:c.*1547G>C	XP_016873038.1:n.*1547G>C
XM_024448437.1:c.*284G>C	XP_024304205.1:n.*284G>C
XM_024448438.1:c.756G>C	XP_024304206.1:p.Leu252=
NM_014384.3:c.1137G>C MANE Select	NP_055199.1:p.Leu379=