Canonical Allele Identifier: CA477723442

Gene: ACAD8

Linked Data

• gnomAD v4: 11-134262576-T-C
• MyVariant Identifiers: chr11:g.134132470T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262576T>C , CM000673.2:g.134262576T>C	GRCh38
NC_000011.9:g.134132470T>C , CM000673.1:g.134132470T>C	GRCh37
NC_000011.8:g.133637680T>C	NCBI36
NG_015842.1:g.14037T>C , LRG_448:g.14037T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1149T>C MANE Select	ENSP00000281182.5:p.Ala383=
ENST00000281182.8:c.1149T>C	ENSP00000281182.4:p.Ala383=
ENST00000374752.6:c.768T>C	ENSP00000363884.4:p.Ala256=
ENST00000524426.5:c.*879T>C	ENSP00000431310.1:n.*879T>C
ENST00000524502.2:n.149T>C
ENST00000526026.5:c.*838T>C	ENSP00000431532.1:n.*838T>C
ENST00000531338.5:n.1393T>C
ENST00000533387.5:n.2208T>C
NM_014384.2:c.1149T>C , LRG_448t1:c.1149T>C	NP_055199.1:p.Ala383=
XM_005271501.2:c.1149T>C	XP_005271558.1:p.Ala383=
XM_011542750.1:c.1149T>C	XP_011541052.1:p.Ala383=
XR_947819.1:n.1213T>C
XR_947820.1:n.1601T>C
XR_947821.1:n.1358T>C
XR_947822.1:n.1043T>C
XR_947823.1:n.1199T>C
XM_005271505.4:c.*1414T>C	XP_005271562.1:n.*1414T>C
XM_011542750.3:c.1149T>C	XP_011541052.1:p.Ala383=
XM_017017542.2:c.1149T>C	XP_016873031.1:p.Ala383=
XM_017017543.2:c.1149T>C	XP_016873032.1:p.Ala383=
XM_017017544.2:c.*118T>C	XP_016873033.1:n.*118T>C
XM_017017545.2:c.*361T>C	XP_016873034.1:n.*361T>C
XM_017017546.2:c.855T>C	XP_016873035.1:p.Ala285=
XM_017017547.2:c.855T>C	XP_016873036.1:p.Ala285=
XM_017017548.2:c.*1785T>C	XP_016873037.1:n.*1785T>C
XM_017017549.2:c.*1559T>C	XP_016873038.1:n.*1559T>C
XM_024448437.1:c.*296T>C	XP_024304205.1:n.*296T>C
XM_024448438.1:c.768T>C	XP_024304206.1:p.Ala256=
NM_014384.3:c.1149T>C MANE Select	NP_055199.1:p.Ala383=