Canonical Allele Identifier: CA383519175

Gene: ACAD8

Linked Data

• MyVariant Identifiers: chr11:g.134132461G>T (hg19) ; chr11:g.134262567G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262567G>T , CM000673.2:g.134262567G>T	GRCh38
NC_000011.9:g.134132461G>T , CM000673.1:g.134132461G>T	GRCh37
NC_000011.8:g.133637671G>T	NCBI36
NG_015842.1:g.14028G>T , LRG_448:g.14028G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1140G>T MANE Select	ENSP00000281182.5:p.Lys380Asn
ENST00000281182.8:c.1140G>T	ENSP00000281182.4:p.Lys380Asn
ENST00000374752.6:c.759G>T	ENSP00000363884.4:p.Lys253Asn
ENST00000524426.5:c.*870G>T	ENSP00000431310.1:n.*870G>T
ENST00000524502.2:n.140G>T
ENST00000526026.5:c.*829G>T	ENSP00000431532.1:n.*829G>T
ENST00000531338.5:n.1384G>T
ENST00000533387.5:n.2199G>T
NM_014384.2:c.1140G>T , LRG_448t1:c.1140G>T	NP_055199.1:p.Lys380Asn
XM_005271501.2:c.1140G>T	XP_005271558.1:p.Lys380Asn
XM_011542750.1:c.1140G>T	XP_011541052.1:p.Lys380Asn
XR_947819.1:n.1204G>T
XR_947820.1:n.1592G>T
XR_947821.1:n.1349G>T
XR_947822.1:n.1034G>T
XR_947823.1:n.1190G>T
XM_005271505.4:c.*1405G>T	XP_005271562.1:n.*1405G>T
XM_011542750.3:c.1140G>T	XP_011541052.1:p.Lys380Asn
XM_017017542.2:c.1140G>T	XP_016873031.1:p.Lys380Asn
XM_017017543.2:c.1140G>T	XP_016873032.1:p.Lys380Asn
XM_017017544.2:c.*109G>T	XP_016873033.1:n.*109G>T
XM_017017545.2:c.*352G>T	XP_016873034.1:n.*352G>T
XM_017017546.2:c.846G>T	XP_016873035.1:p.Lys282Asn
XM_017017547.2:c.846G>T	XP_016873036.1:p.Lys282Asn
XM_017017548.2:c.*1776G>T	XP_016873037.1:n.*1776G>T
XM_017017549.2:c.*1550G>T	XP_016873038.1:n.*1550G>T
XM_024448437.1:c.*287G>T	XP_024304205.1:n.*287G>T
XM_024448438.1:c.759G>T	XP_024304206.1:p.Lys253Asn
NM_014384.3:c.1140G>T MANE Select	NP_055199.1:p.Lys380Asn