Canonical Allele Identifier: CA383519149

Gene: ACAD8

Linked Data

• MyVariant Identifiers: chr11:g.134132457T>C (hg19) ; chr11:g.134262563T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262563T>C , CM000673.2:g.134262563T>C	GRCh38
NC_000011.9:g.134132457T>C , CM000673.1:g.134132457T>C	GRCh37
NC_000011.8:g.133637667T>C	NCBI36
NG_015842.1:g.14024T>C , LRG_448:g.14024T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000281182.9:c.1136T>C MANE Select	ENSP00000281182.5:p.Leu379Pro
ENST00000281182.8:c.1136T>C	ENSP00000281182.4:p.Leu379Pro
ENST00000374752.6:c.755T>C	ENSP00000363884.4:p.Leu252Pro
ENST00000524426.5:c.*866T>C	ENSP00000431310.1:n.*866T>C
ENST00000524502.2:n.136T>C
ENST00000526026.5:c.*825T>C	ENSP00000431532.1:n.*825T>C
ENST00000531338.5:n.1380T>C
ENST00000533387.5:n.2195T>C
NM_014384.2:c.1136T>C , LRG_448t1:c.1136T>C	NP_055199.1:p.Leu379Pro
XM_005271501.2:c.1136T>C	XP_005271558.1:p.Leu379Pro
XM_011542750.1:c.1136T>C	XP_011541052.1:p.Leu379Pro
XR_947819.1:n.1200T>C
XR_947820.1:n.1588T>C
XR_947821.1:n.1345T>C
XR_947822.1:n.1030T>C
XR_947823.1:n.1186T>C
XM_005271505.4:c.*1401T>C	XP_005271562.1:n.*1401T>C
XM_011542750.3:c.1136T>C	XP_011541052.1:p.Leu379Pro
XM_017017542.2:c.1136T>C	XP_016873031.1:p.Leu379Pro
XM_017017543.2:c.1136T>C	XP_016873032.1:p.Leu379Pro
XM_017017544.2:c.*105T>C	XP_016873033.1:n.*105T>C
XM_017017545.2:c.*348T>C	XP_016873034.1:n.*348T>C
XM_017017546.2:c.842T>C	XP_016873035.1:p.Leu281Pro
XM_017017547.2:c.842T>C	XP_016873036.1:p.Leu281Pro
XM_017017548.2:c.*1772T>C	XP_016873037.1:n.*1772T>C
XM_017017549.2:c.*1546T>C	XP_016873038.1:n.*1546T>C
XM_024448437.1:c.*283T>C	XP_024304205.1:n.*283T>C
XM_024448438.1:c.755T>C	XP_024304206.1:p.Leu252Pro
NM_014384.3:c.1136T>C MANE Select	NP_055199.1:p.Leu379Pro