Canonical Allele Identifier: CA383519230

Gene: ACAD8

Linked Data

• dbSNP Id: rs1371333548
• gnomAD v2: 11-134132471-G-C
• gnomAD v4: 11-134262577-G-C
• MyVariant Identifiers: chr11:g.134132471G>C (hg19) ; chr11:g.134262577G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262577G>C , CM000673.2:g.134262577G>C	GRCh38
NC_000011.9:g.134132471G>C , CM000673.1:g.134132471G>C	GRCh37
NC_000011.8:g.133637681G>C	NCBI36
NG_015842.1:g.14038G>C , LRG_448:g.14038G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1150G>C MANE Select	ENSP00000281182.5:p.Val384Leu
ENST00000281182.8:c.1150G>C	ENSP00000281182.4:p.Val384Leu
ENST00000374752.6:c.769G>C	ENSP00000363884.4:p.Val257Leu
ENST00000524426.5:c.*880G>C	ENSP00000431310.1:n.*880G>C
ENST00000524502.2:n.150G>C
ENST00000526026.5:c.*839G>C	ENSP00000431532.1:n.*839G>C
ENST00000531338.5:n.1394G>C
ENST00000533387.5:n.2209G>C
NM_014384.2:c.1150G>C , LRG_448t1:c.1150G>C	NP_055199.1:p.Val384Leu
XM_005271501.2:c.1150G>C	XP_005271558.1:p.Val384Leu
XM_011542750.1:c.1150G>C	XP_011541052.1:p.Val384Leu
XR_947819.1:n.1214G>C
XR_947820.1:n.1602G>C
XR_947821.1:n.1359G>C
XR_947822.1:n.1044G>C
XR_947823.1:n.1200G>C
XM_005271505.4:c.*1415G>C	XP_005271562.1:n.*1415G>C
XM_011542750.3:c.1150G>C	XP_011541052.1:p.Val384Leu
XM_017017542.2:c.1150G>C	XP_016873031.1:p.Val384Leu
XM_017017543.2:c.1150G>C	XP_016873032.1:p.Val384Leu
XM_017017544.2:c.*119G>C	XP_016873033.1:n.*119G>C
XM_017017545.2:c.*362G>C	XP_016873034.1:n.*362G>C
XM_017017546.2:c.856G>C	XP_016873035.1:p.Val286Leu
XM_017017547.2:c.856G>C	XP_016873036.1:p.Val286Leu
XM_017017548.2:c.*1786G>C	XP_016873037.1:n.*1786G>C
XM_017017549.2:c.*1560G>C	XP_016873038.1:n.*1560G>C
XM_024448437.1:c.*297G>C	XP_024304205.1:n.*297G>C
XM_024448438.1:c.769G>C	XP_024304206.1:p.Val257Leu
NM_014384.3:c.1150G>C MANE Select	NP_055199.1:p.Val384Leu