Canonical Allele Identifier: CA10603786

Gene: ACAT1

Linked Data

• ClinVar Variation Id: 281026
• ClinVar RCV Id: RCV000370142 ; RCV000811411
• dbSNP Id: rs886042080
• gnomAD v4: 11-108147359-G-A
• MyVariant Identifiers: chr11:g.108018086G>A (hg19) ; chr11:g.108147359G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108147359G>A , CM000673.2:g.108147359G>A	GRCh38
NC_000011.9:g.108018086G>A , CM000673.1:g.108018086G>A	GRCh37
NC_000011.8:g.107523296G>A	NCBI36
NG_009888.1:g.30829G>A
NG_009888.2:g.35655G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265838.9:c.1253G>A MANE Select	ENSP00000265838.4:p.Gly418Asp
ENST00000671707.1:n.1348G>A
ENST00000672031.1:c.*240G>A	ENSP00000500463.1:n.*240G>A
ENST00000672284.1:c.983G>A	ENSP00000500444.1:p.Gly328Asp
ENST00000672354.1:c.1274G>A	ENSP00000500490.1:p.Gly425Asp
ENST00000672367.1:c.890G>A	ENSP00000500209.1:p.Gly297Asp
ENST00000672580.1:c.*508G>A	ENSP00000500366.1:n.*508G>A
ENST00000672907.1:c.938G>A	ENSP00000500928.1:p.Gly313Asp
ENST00000673000.1:n.1341G>A
ENST00000673531.1:c.983G>A	ENSP00000500163.1:p.Gly328Asp
ENST00000265838.8:c.1253G>A	ENSP00000265838.4:p.Gly418Asp
ENST00000533597.1:n.329G>A
NM_000019.3:c.1253G>A	NP_000010.1:p.Gly418Asp
XM_006718834.2:c.983G>A	XP_006718897.1:p.Gly328Asp
XM_006718835.2:c.983G>A	XP_006718898.1:p.Gly328Asp
XM_006718835.3:c.983G>A	XP_006718898.1:p.Gly328Asp
XM_017017681.1:c.983G>A	XP_016873170.1:p.Gly328Asp
XM_017017682.2:c.875G>A	XP_016873171.1:p.Gly292Asp
XM_017017683.2:c.875G>A	XP_016873172.1:p.Gly292Asp
XM_024448511.1:c.983G>A	XP_024304279.1:p.Gly328Asp
XM_024448512.1:c.983G>A	XP_024304280.1:p.Gly328Asp
XM_024448513.1:c.983G>A	XP_024304281.1:p.Gly328Asp
XM_024448514.1:c.983G>A	XP_024304282.1:p.Gly328Asp
XM_024448515.1:c.983G>A	XP_024304283.1:p.Gly328Asp
NM_000019.4:c.1253G>A MANE Select	NP_000010.1:p.Gly418Asp
NM_001386677.1:c.1274G>A	NP_001373606.1:p.Gly425Asp
NM_001386678.1:c.938G>A	NP_001373607.1:p.Gly313Asp
NM_001386679.1:c.956G>A	NP_001373608.1:p.Gly319Asp
NM_001386681.1:c.983G>A	NP_001373610.1:p.Gly328Asp
NM_001386682.1:c.983G>A	NP_001373611.1:p.Gly328Asp
NM_001386685.1:c.983G>A	NP_001373614.1:p.Gly328Asp
NM_001386686.1:c.983G>A	NP_001373615.1:p.Gly328Asp
NM_001386687.1:c.983G>A	NP_001373616.1:p.Gly328Asp
NM_001386688.1:c.983G>A	NP_001373617.1:p.Gly328Asp
NM_001386689.1:c.983G>A	NP_001373618.1:p.Gly328Asp
NM_001386690.1:c.983G>A	NP_001373619.1:p.Gly328Asp
NM_001386691.1:c.983G>A	NP_001373620.1:p.Gly328Asp
NR_170162.1:n.1228G>A
NR_170163.1:n.1286G>A