Canonical Allele Identifier: CA477723578

Gene: ACAD8

Linked Data

• MyVariant Identifiers: chr11:g.134132509T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.134262615T>C , CM000673.2:g.134262615T>C	GRCh38
NC_000011.9:g.134132509T>C , CM000673.1:g.134132509T>C	GRCh37
NC_000011.8:g.133637719T>C	NCBI36
NG_015842.1:g.14076T>C , LRG_448:g.14076T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281182.9:c.1188T>C MANE Select	ENSP00000281182.5:p.Ile396=
ENST00000281182.8:c.1188T>C	ENSP00000281182.4:p.Ile396=
ENST00000374752.6:c.807T>C	ENSP00000363884.4:p.Ile269=
ENST00000524502.2:n.188T>C
ENST00000526026.5:c.*877T>C	ENSP00000431532.1:n.*877T>C
ENST00000531338.5:n.1432T>C
ENST00000533387.5:n.2247T>C
NM_014384.2:c.1188T>C , LRG_448t1:c.1188T>C	NP_055199.1:p.Ile396=
XM_005271501.2:c.1188T>C	XP_005271558.1:p.Ile396=
XM_011542750.1:c.1188T>C	XP_011541052.1:p.Ile396=
XR_947819.1:n.1252T>C
XR_947820.1:n.1640T>C
XR_947822.1:n.1082T>C
XR_947823.1:n.1238T>C
XM_005271505.4:c.*1453T>C	XP_005271562.1:n.*1453T>C
XM_011542750.3:c.1188T>C	XP_011541052.1:p.Ile396=
XM_017017542.2:c.1188T>C	XP_016873031.1:p.Ile396=
XM_017017543.2:c.1188T>C	XP_016873032.1:p.Ile396=
XM_017017544.2:c.*157T>C	XP_016873033.1:n.*157T>C
XM_017017545.2:c.*400T>C	XP_016873034.1:n.*400T>C
XM_017017546.2:c.894T>C	XP_016873035.1:p.Ile298=
XM_017017547.2:c.894T>C	XP_016873036.1:p.Ile298=
XM_017017548.2:c.*1824T>C	XP_016873037.1:n.*1824T>C
XM_017017549.2:c.*1598T>C	XP_016873038.1:n.*1598T>C
XM_024448437.1:c.*335T>C	XP_024304205.1:n.*335T>C
XM_024448438.1:c.807T>C	XP_024304206.1:p.Ile269=
NM_014384.3:c.1188T>C MANE Select	NP_055199.1:p.Ile396=