Canonical Allele Identifier: CA383519357

Gene: ACAD8

Linked Data

• MyVariant Identifiers: chr11:g.134132498G>C (hg19) ; chr11:g.134262604G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262604G>C , CM000673.2:g.134262604G>C	GRCh38
NC_000011.9:g.134132498G>C , CM000673.1:g.134132498G>C	GRCh37
NC_000011.8:g.133637708G>C	NCBI36
NG_015842.1:g.14065G>C , LRG_448:g.14065G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1177G>C MANE Select	ENSP00000281182.5:p.Val393Leu
ENST00000281182.8:c.1177G>C	ENSP00000281182.4:p.Val393Leu
ENST00000374752.6:c.796G>C	ENSP00000363884.4:p.Val266Leu
ENST00000524426.5:c.*907G>C	ENSP00000431310.1:n.*907G>C
ENST00000524502.2:n.177G>C
ENST00000526026.5:c.*866G>C	ENSP00000431532.1:n.*866G>C
ENST00000531338.5:n.1421G>C
ENST00000533387.5:n.2236G>C
NM_014384.2:c.1177G>C , LRG_448t1:c.1177G>C	NP_055199.1:p.Val393Leu
XM_005271501.2:c.1177G>C	XP_005271558.1:p.Val393Leu
XM_011542750.1:c.1177G>C	XP_011541052.1:p.Val393Leu
XR_947819.1:n.1241G>C
XR_947820.1:n.1629G>C
XR_947822.1:n.1071G>C
XR_947823.1:n.1227G>C
XM_005271505.4:c.*1442G>C	XP_005271562.1:n.*1442G>C
XM_011542750.3:c.1177G>C	XP_011541052.1:p.Val393Leu
XM_017017542.2:c.1177G>C	XP_016873031.1:p.Val393Leu
XM_017017543.2:c.1177G>C	XP_016873032.1:p.Val393Leu
XM_017017544.2:c.*146G>C	XP_016873033.1:n.*146G>C
XM_017017545.2:c.*389G>C	XP_016873034.1:n.*389G>C
XM_017017546.2:c.883G>C	XP_016873035.1:p.Val295Leu
XM_017017547.2:c.883G>C	XP_016873036.1:p.Val295Leu
XM_017017548.2:c.*1813G>C	XP_016873037.1:n.*1813G>C
XM_017017549.2:c.*1587G>C	XP_016873038.1:n.*1587G>C
XM_024448437.1:c.*324G>C	XP_024304205.1:n.*324G>C
XM_024448438.1:c.796G>C	XP_024304206.1:p.Val266Leu
NM_014384.3:c.1177G>C MANE Select	NP_055199.1:p.Val393Leu