Canonical Allele Identifier: CA382508721

Gene: ACAT1

Linked Data

• dbSNP Id: rs1377144871
• gnomAD v3: 11-108147285-G-C
• gnomAD v4: 11-108147285-G-C
• MyVariant Identifiers: chr11:g.108018012G>C (hg19) ; chr11:g.108147285G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108147285G>C , CM000673.2:g.108147285G>C	GRCh38
NC_000011.9:g.108018012G>C , CM000673.1:g.108018012G>C	GRCh37
NC_000011.8:g.107523222G>C	NCBI36
NG_009888.1:g.30755G>C
NG_009888.2:g.35581G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265838.9:c.1179G>C MANE Select	ENSP00000265838.4:p.Arg393Ser
ENST00000671707.1:n.1274G>C
ENST00000672031.1:c.*166G>C	ENSP00000500463.1:n.*166G>C
ENST00000672284.1:c.909G>C	ENSP00000500444.1:p.Arg303Ser
ENST00000672354.1:c.1200G>C	ENSP00000500490.1:p.Arg400Ser
ENST00000672367.1:c.816G>C	ENSP00000500209.1:p.Arg272Ser
ENST00000672580.1:c.*434G>C	ENSP00000500366.1:n.*434G>C
ENST00000672907.1:c.864G>C	ENSP00000500928.1:p.Arg288Ser
ENST00000673000.1:n.1267G>C
ENST00000673531.1:c.909G>C	ENSP00000500163.1:p.Arg303Ser
ENST00000265838.8:c.1179G>C	ENSP00000265838.4:p.Arg393Ser
ENST00000533597.1:n.255G>C
NM_000019.3:c.1179G>C	NP_000010.1:p.Arg393Ser
XM_006718834.2:c.909G>C	XP_006718897.1:p.Arg303Ser
XM_006718835.2:c.909G>C	XP_006718898.1:p.Arg303Ser
XM_006718835.3:c.909G>C	XP_006718898.1:p.Arg303Ser
XM_017017681.1:c.909G>C	XP_016873170.1:p.Arg303Ser
XM_017017682.2:c.801G>C	XP_016873171.1:p.Arg267Ser
XM_017017683.2:c.801G>C	XP_016873172.1:p.Arg267Ser
XM_024448511.1:c.909G>C	XP_024304279.1:p.Arg303Ser
XM_024448512.1:c.909G>C	XP_024304280.1:p.Arg303Ser
XM_024448513.1:c.909G>C	XP_024304281.1:p.Arg303Ser
XM_024448514.1:c.909G>C	XP_024304282.1:p.Arg303Ser
XM_024448515.1:c.909G>C	XP_024304283.1:p.Arg303Ser
NM_000019.4:c.1179G>C MANE Select	NP_000010.1:p.Arg393Ser
NM_001386677.1:c.1200G>C	NP_001373606.1:p.Arg400Ser
NM_001386678.1:c.864G>C	NP_001373607.1:p.Arg288Ser
NM_001386679.1:c.882G>C	NP_001373608.1:p.Arg294Ser
NM_001386681.1:c.909G>C	NP_001373610.1:p.Arg303Ser
NM_001386682.1:c.909G>C	NP_001373611.1:p.Arg303Ser
NM_001386685.1:c.909G>C	NP_001373614.1:p.Arg303Ser
NM_001386686.1:c.909G>C	NP_001373615.1:p.Arg303Ser
NM_001386687.1:c.909G>C	NP_001373616.1:p.Arg303Ser
NM_001386688.1:c.909G>C	NP_001373617.1:p.Arg303Ser
NM_001386689.1:c.909G>C	NP_001373618.1:p.Arg303Ser
NM_001386690.1:c.909G>C	NP_001373619.1:p.Arg303Ser
NM_001386691.1:c.909G>C	NP_001373620.1:p.Arg303Ser
NR_170162.1:n.1154G>C
NR_170163.1:n.1212G>C