Canonical Allele Identifier: CA383518949

Gene: ACAD8

Linked Data

• MyVariant Identifiers: chr11:g.134132419C>G (hg19) ; chr11:g.134262525C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262525C>G , CM000673.2:g.134262525C>G	GRCh38
NC_000011.9:g.134132419C>G , CM000673.1:g.134132419C>G	GRCh37
NC_000011.8:g.133637629C>G	NCBI36
NG_015842.1:g.13986C>G , LRG_448:g.13986C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1098C>G MANE Select	ENSP00000281182.5:p.Cys366Trp
ENST00000281182.8:c.1098C>G	ENSP00000281182.4:p.Cys366Trp
ENST00000374752.6:c.717C>G	ENSP00000363884.4:p.Cys239Trp
ENST00000524426.5:c.*828C>G	ENSP00000431310.1:n.*828C>G
ENST00000524502.2:n.98C>G
ENST00000524547.5:n.701C>G
ENST00000526026.5:c.*787C>G	ENSP00000431532.1:n.*787C>G
ENST00000531338.5:n.1342C>G
ENST00000533387.5:n.2157C>G
NM_014384.2:c.1098C>G , LRG_448t1:c.1098C>G	NP_055199.1:p.Cys366Trp
XM_005271501.2:c.1098C>G	XP_005271558.1:p.Cys366Trp
XM_011542750.1:c.1098C>G	XP_011541052.1:p.Cys366Trp
XR_947819.1:n.1162C>G
XR_947820.1:n.1550C>G
XR_947821.1:n.1307C>G
XR_947822.1:n.992C>G
XR_947823.1:n.1148C>G
XM_005271505.4:c.*1363C>G	XP_005271562.1:n.*1363C>G
XM_011542750.3:c.1098C>G	XP_011541052.1:p.Cys366Trp
XM_017017542.2:c.1098C>G	XP_016873031.1:p.Cys366Trp
XM_017017543.2:c.1098C>G	XP_016873032.1:p.Cys366Trp
XM_017017544.2:c.*67C>G	XP_016873033.1:n.*67C>G
XM_017017545.2:c.*310C>G	XP_016873034.1:n.*310C>G
XM_017017546.2:c.804C>G	XP_016873035.1:p.Cys268Trp
XM_017017547.2:c.804C>G	XP_016873036.1:p.Cys268Trp
XM_017017548.2:c.*1734C>G	XP_016873037.1:n.*1734C>G
XM_017017549.2:c.*1508C>G	XP_016873038.1:n.*1508C>G
XM_024448437.1:c.*245C>G	XP_024304205.1:n.*245C>G
XM_024448438.1:c.717C>G	XP_024304206.1:p.Cys239Trp
NM_014384.3:c.1098C>G MANE Select	NP_055199.1:p.Cys366Trp