Canonical Allele Identifier: CA383519337

Gene: ACAD8

Linked Data

• gnomAD v4: 11-134262599-C-T
• MyVariant Identifiers: chr11:g.134132493C>T (hg19) ; chr11:g.134262599C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262599C>T , CM000673.2:g.134262599C>T	GRCh38
NC_000011.9:g.134132493C>T , CM000673.1:g.134132493C>T	GRCh37
NC_000011.8:g.133637703C>T	NCBI36
NG_015842.1:g.14060C>T , LRG_448:g.14060C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1172C>T MANE Select	ENSP00000281182.5:p.Ser391Phe
ENST00000281182.8:c.1172C>T	ENSP00000281182.4:p.Ser391Phe
ENST00000374752.6:c.791C>T	ENSP00000363884.4:p.Ser264Phe
ENST00000524426.5:c.*902C>T	ENSP00000431310.1:n.*902C>T
ENST00000524502.2:n.172C>T
ENST00000526026.5:c.*861C>T	ENSP00000431532.1:n.*861C>T
ENST00000531338.5:n.1416C>T
ENST00000533387.5:n.2231C>T
NM_014384.2:c.1172C>T , LRG_448t1:c.1172C>T	NP_055199.1:p.Ser391Phe
XM_005271501.2:c.1172C>T	XP_005271558.1:p.Ser391Phe
XM_011542750.1:c.1172C>T	XP_011541052.1:p.Ser391Phe
XR_947819.1:n.1236C>T
XR_947820.1:n.1624C>T
XR_947821.1:n.1381C>T
XR_947822.1:n.1066C>T
XR_947823.1:n.1222C>T
XM_005271505.4:c.*1437C>T	XP_005271562.1:n.*1437C>T
XM_011542750.3:c.1172C>T	XP_011541052.1:p.Ser391Phe
XM_017017542.2:c.1172C>T	XP_016873031.1:p.Ser391Phe
XM_017017543.2:c.1172C>T	XP_016873032.1:p.Ser391Phe
XM_017017544.2:c.*141C>T	XP_016873033.1:n.*141C>T
XM_017017545.2:c.*384C>T	XP_016873034.1:n.*384C>T
XM_017017546.2:c.878C>T	XP_016873035.1:p.Ser293Phe
XM_017017547.2:c.878C>T	XP_016873036.1:p.Ser293Phe
XM_017017548.2:c.*1808C>T	XP_016873037.1:n.*1808C>T
XM_017017549.2:c.*1582C>T	XP_016873038.1:n.*1582C>T
XM_024448437.1:c.*319C>T	XP_024304205.1:n.*319C>T
XM_024448438.1:c.791C>T	XP_024304206.1:p.Ser264Phe
NM_014384.3:c.1172C>T MANE Select	NP_055199.1:p.Ser391Phe