Canonical Allele Identifier: CA477723398

Gene: ACAD8

Linked Data

• MyVariant Identifiers: chr11:g.134132456C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262562C>T , CM000673.2:g.134262562C>T	GRCh38
NC_000011.9:g.134132456C>T , CM000673.1:g.134132456C>T	GRCh37
NC_000011.8:g.133637666C>T	NCBI36
NG_015842.1:g.14023C>T , LRG_448:g.14023C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000281182.9:c.1135C>T MANE Select	ENSP00000281182.5:p.Leu379=
ENST00000281182.8:c.1135C>T	ENSP00000281182.4:p.Leu379=
ENST00000374752.6:c.754C>T	ENSP00000363884.4:p.Leu252=
ENST00000524426.5:c.*865C>T	ENSP00000431310.1:n.*865C>T
ENST00000524502.2:n.135C>T
ENST00000526026.5:c.*824C>T	ENSP00000431532.1:n.*824C>T
ENST00000531338.5:n.1379C>T
ENST00000533387.5:n.2194C>T
NM_014384.2:c.1135C>T , LRG_448t1:c.1135C>T	NP_055199.1:p.Leu379=
XM_005271501.2:c.1135C>T	XP_005271558.1:p.Leu379=
XM_011542750.1:c.1135C>T	XP_011541052.1:p.Leu379=
XR_947819.1:n.1199C>T
XR_947820.1:n.1587C>T
XR_947821.1:n.1344C>T
XR_947822.1:n.1029C>T
XR_947823.1:n.1185C>T
XM_005271505.4:c.*1400C>T	XP_005271562.1:n.*1400C>T
XM_011542750.3:c.1135C>T	XP_011541052.1:p.Leu379=
XM_017017542.2:c.1135C>T	XP_016873031.1:p.Leu379=
XM_017017543.2:c.1135C>T	XP_016873032.1:p.Leu379=
XM_017017544.2:c.*104C>T	XP_016873033.1:n.*104C>T
XM_017017545.2:c.*347C>T	XP_016873034.1:n.*347C>T
XM_017017546.2:c.841C>T	XP_016873035.1:p.Leu281=
XM_017017547.2:c.841C>T	XP_016873036.1:p.Leu281=
XM_017017548.2:c.*1771C>T	XP_016873037.1:n.*1771C>T
XM_017017549.2:c.*1545C>T	XP_016873038.1:n.*1545C>T
XM_024448437.1:c.*282C>T	XP_024304205.1:n.*282C>T
XM_024448438.1:c.754C>T	XP_024304206.1:p.Leu252=
NM_014384.3:c.1135C>T MANE Select	NP_055199.1:p.Leu379=