Canonical Allele Identifier: CA382508439

Gene: ACAT1

Linked Data

• gnomAD v4: 11-108146250-G-A
• MyVariant Identifiers: chr11:g.108016977G>A (hg19) ; chr11:g.108146250G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108146250G>A , CM000673.2:g.108146250G>A	GRCh38
NC_000011.9:g.108016977G>A , CM000673.1:g.108016977G>A	GRCh37
NC_000011.8:g.107522187G>A	NCBI36
NG_009888.1:g.29720G>A
NG_009888.2:g.34546G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265838.9:c.1054G>A MANE Select	ENSP00000265838.4:p.Val352Ile
ENST00000671707.1:n.1149G>A
ENST00000672031.1:c.*41G>A	ENSP00000500463.1:n.*41G>A
ENST00000672284.1:c.784G>A	ENSP00000500444.1:p.Val262Ile
ENST00000672354.1:c.1054G>A	ENSP00000500490.1:p.Val352Ile
ENST00000672367.1:c.691G>A	ENSP00000500209.1:p.Val231Ile
ENST00000672580.1:c.*309G>A	ENSP00000500366.1:n.*309G>A
ENST00000672907.1:c.739G>A	ENSP00000500928.1:p.Val247Ile
ENST00000673000.1:n.1142G>A
ENST00000673531.1:c.784G>A	ENSP00000500163.1:p.Val262Ile
ENST00000265838.8:c.1054G>A	ENSP00000265838.4:p.Val352Ile
ENST00000533597.1:n.130G>A
NM_000019.3:c.1054G>A	NP_000010.1:p.Val352Ile
XM_006718834.2:c.784G>A	XP_006718897.1:p.Val262Ile
XM_006718835.2:c.784G>A	XP_006718898.1:p.Val262Ile
XM_006718835.3:c.784G>A	XP_006718898.1:p.Val262Ile
XM_017017681.1:c.784G>A	XP_016873170.1:p.Val262Ile
XM_017017682.2:c.676G>A	XP_016873171.1:p.Val226Ile
XM_017017683.2:c.676G>A	XP_016873172.1:p.Val226Ile
XM_024448511.1:c.784G>A	XP_024304279.1:p.Val262Ile
XM_024448512.1:c.784G>A	XP_024304280.1:p.Val262Ile
XM_024448513.1:c.784G>A	XP_024304281.1:p.Val262Ile
XM_024448514.1:c.784G>A	XP_024304282.1:p.Val262Ile
XM_024448515.1:c.784G>A	XP_024304283.1:p.Val262Ile
NM_000019.4:c.1054G>A MANE Select	NP_000010.1:p.Val352Ile
NM_001386677.1:c.1054G>A	NP_001373606.1:p.Val352Ile
NM_001386678.1:c.739G>A	NP_001373607.1:p.Val247Ile
NM_001386679.1:c.757G>A	NP_001373608.1:p.Val253Ile
NM_001386681.1:c.784G>A	NP_001373610.1:p.Val262Ile
NM_001386682.1:c.784G>A	NP_001373611.1:p.Val262Ile
NM_001386685.1:c.784G>A	NP_001373614.1:p.Val262Ile
NM_001386686.1:c.784G>A	NP_001373615.1:p.Val262Ile
NM_001386687.1:c.784G>A	NP_001373616.1:p.Val262Ile
NM_001386688.1:c.784G>A	NP_001373617.1:p.Val262Ile
NM_001386689.1:c.784G>A	NP_001373618.1:p.Val262Ile
NM_001386690.1:c.784G>A	NP_001373619.1:p.Val262Ile
NM_001386691.1:c.784G>A	NP_001373620.1:p.Val262Ile
NR_170162.1:n.1029G>A
NR_170163.1:n.1087G>A