Canonical Allele Identifier: CA383519008

Gene: ACAD8

Linked Data

• MyVariant Identifiers: chr11:g.134132430T>G (hg19) ; chr11:g.134262536T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262536T>G , CM000673.2:g.134262536T>G	GRCh38
NC_000011.9:g.134132430T>G , CM000673.1:g.134132430T>G	GRCh37
NC_000011.8:g.133637640T>G	NCBI36
NG_015842.1:g.13997T>G , LRG_448:g.13997T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1109T>G MANE Select	ENSP00000281182.5:p.Leu370Trp
ENST00000281182.8:c.1109T>G	ENSP00000281182.4:p.Leu370Trp
ENST00000374752.6:c.728T>G	ENSP00000363884.4:p.Leu243Trp
ENST00000524426.5:c.*839T>G	ENSP00000431310.1:n.*839T>G
ENST00000524502.2:n.109T>G
ENST00000526026.5:c.*798T>G	ENSP00000431532.1:n.*798T>G
ENST00000531338.5:n.1353T>G
ENST00000533387.5:n.2168T>G
NM_014384.2:c.1109T>G , LRG_448t1:c.1109T>G	NP_055199.1:p.Leu370Trp
XM_005271501.2:c.1109T>G	XP_005271558.1:p.Leu370Trp
XM_011542750.1:c.1109T>G	XP_011541052.1:p.Leu370Trp
XR_947819.1:n.1173T>G
XR_947820.1:n.1561T>G
XR_947821.1:n.1318T>G
XR_947822.1:n.1003T>G
XR_947823.1:n.1159T>G
XM_005271505.4:c.*1374T>G	XP_005271562.1:n.*1374T>G
XM_011542750.3:c.1109T>G	XP_011541052.1:p.Leu370Trp
XM_017017542.2:c.1109T>G	XP_016873031.1:p.Leu370Trp
XM_017017543.2:c.1109T>G	XP_016873032.1:p.Leu370Trp
XM_017017544.2:c.*78T>G	XP_016873033.1:n.*78T>G
XM_017017545.2:c.*321T>G	XP_016873034.1:n.*321T>G
XM_017017546.2:c.815T>G	XP_016873035.1:p.Leu272Trp
XM_017017547.2:c.815T>G	XP_016873036.1:p.Leu272Trp
XM_017017548.2:c.*1745T>G	XP_016873037.1:n.*1745T>G
XM_017017549.2:c.*1519T>G	XP_016873038.1:n.*1519T>G
XM_024448437.1:c.*256T>G	XP_024304205.1:n.*256T>G
XM_024448438.1:c.728T>G	XP_024304206.1:p.Leu243Trp
NM_014384.3:c.1109T>G MANE Select	NP_055199.1:p.Leu370Trp