Canonical Allele Identifier: CA6373247

Gene: ACAD8

Linked Data

• dbSNP Id: rs773332878
• ExAC: 11:134132492 T / C
• gnomAD v2: 11-134132492-T-C
• gnomAD v4: 11-134262598-T-C
• MyVariant Identifiers: chr11:g.134132492T>C (hg19) ; chr11:g.134262598T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262598T>C , CM000673.2:g.134262598T>C	GRCh38
NC_000011.9:g.134132492T>C , CM000673.1:g.134132492T>C	GRCh37
NC_000011.8:g.133637702T>C	NCBI36
NG_015842.1:g.14059T>C , LRG_448:g.14059T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1171T>C MANE Select	ENSP00000281182.5:p.Ser391Pro
ENST00000281182.8:c.1171T>C	ENSP00000281182.4:p.Ser391Pro
ENST00000374752.6:c.790T>C	ENSP00000363884.4:p.Ser264Pro
ENST00000524426.5:c.*901T>C	ENSP00000431310.1:n.*901T>C
ENST00000524502.2:n.171T>C
ENST00000526026.5:c.*860T>C	ENSP00000431532.1:n.*860T>C
ENST00000531338.5:n.1415T>C
ENST00000533387.5:n.2230T>C
NM_014384.2:c.1171T>C , LRG_448t1:c.1171T>C	NP_055199.1:p.Ser391Pro
XM_005271501.2:c.1171T>C	XP_005271558.1:p.Ser391Pro
XM_011542750.1:c.1171T>C	XP_011541052.1:p.Ser391Pro
XR_947819.1:n.1235T>C
XR_947820.1:n.1623T>C
XR_947821.1:n.1380T>C
XR_947822.1:n.1065T>C
XR_947823.1:n.1221T>C
XM_005271505.4:c.*1436T>C	XP_005271562.1:n.*1436T>C
XM_011542750.3:c.1171T>C	XP_011541052.1:p.Ser391Pro
XM_017017542.2:c.1171T>C	XP_016873031.1:p.Ser391Pro
XM_017017543.2:c.1171T>C	XP_016873032.1:p.Ser391Pro
XM_017017544.2:c.*140T>C	XP_016873033.1:n.*140T>C
XM_017017545.2:c.*383T>C	XP_016873034.1:n.*383T>C
XM_017017546.2:c.877T>C	XP_016873035.1:p.Ser293Pro
XM_017017547.2:c.877T>C	XP_016873036.1:p.Ser293Pro
XM_017017548.2:c.*1807T>C	XP_016873037.1:n.*1807T>C
XM_017017549.2:c.*1581T>C	XP_016873038.1:n.*1581T>C
XM_024448437.1:c.*318T>C	XP_024304205.1:n.*318T>C
XM_024448438.1:c.790T>C	XP_024304206.1:p.Ser264Pro
NM_014384.3:c.1171T>C MANE Select	NP_055199.1:p.Ser391Pro