Canonical Allele Identifier: CA601679541

Gene: ACAT1

Linked Data

• ClinVar Variation Id: 1069757
• ClinVar RCV Id: RCV001381721
• dbSNP Id: rs1565298653
• gnomAD v2: 11-108018005-G-GA
• gnomAD v4: 11-108147278-G-GA
• MyVariant Identifiers: chr11:g.108018005_108018006insA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108147279dup , CM000673.2:g.108147279dup	GRCh38
NC_000011.9:g.108018006dup , CM000673.1:g.108018006dup	GRCh37
NC_000011.8:g.107523216dup	NCBI36
NG_009888.1:g.30749dup
NG_009888.2:g.35575dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265838.9:c.1173dup MANE Select	ENSP00000265838.4:p.Ala392SerfsTer?
ENST00000671707.1:n.1268dup
ENST00000672031.1:c.*160dup	ENSP00000500463.1:n.*160dup
ENST00000672284.1:c.903dup	ENSP00000500444.1:p.Ala302SerfsTer?
ENST00000672354.1:c.1194dup	ENSP00000500490.1:p.Ala399SerfsTer?
ENST00000672367.1:c.810dup	ENSP00000500209.1:p.Ala271SerfsTer?
ENST00000672580.1:c.*428dup	ENSP00000500366.1:n.*428dup
ENST00000672907.1:c.858dup	ENSP00000500928.1:p.Ala287SerfsTer?
ENST00000673000.1:n.1261dup
ENST00000673531.1:c.903dup	ENSP00000500163.1:p.Ala302SerfsTer?
ENST00000265838.8:c.1173dup	ENSP00000265838.4:p.Ala392SerfsTer?
ENST00000533597.1:n.249dup
NM_000019.3:c.1173dup	NP_000010.1:p.Ala392SerfsTer?
XM_006718834.2:c.903dup	XP_006718897.1:p.Ala302SerfsTer?
XM_006718835.2:c.903dup	XP_006718898.1:p.Ala302SerfsTer?
XM_006718835.3:c.903dup	XP_006718898.1:p.Ala302SerfsTer?
XM_017017681.1:c.903dup	XP_016873170.1:p.Ala302SerfsTer?
XM_017017682.2:c.795dup	XP_016873171.1:p.Ala266SerfsTer?
XM_017017683.2:c.795dup	XP_016873172.1:p.Ala266SerfsTer?
XM_024448511.1:c.903dup	XP_024304279.1:p.Ala302SerfsTer?
XM_024448512.1:c.903dup	XP_024304280.1:p.Ala302SerfsTer?
XM_024448513.1:c.903dup	XP_024304281.1:p.Ala302SerfsTer?
XM_024448514.1:c.903dup	XP_024304282.1:p.Ala302SerfsTer?
XM_024448515.1:c.903dup	XP_024304283.1:p.Ala302SerfsTer?
NM_000019.4:c.1173dup MANE Select	NP_000010.1:p.Ala392SerfsTer?
NM_001386677.1:c.1194dup	NP_001373606.1:p.Ala399SerfsTer?
NM_001386678.1:c.858dup	NP_001373607.1:p.Ala287SerfsTer?
NM_001386679.1:c.876dup	NP_001373608.1:p.Ala293SerfsTer?
NM_001386681.1:c.903dup	NP_001373610.1:p.Ala302SerfsTer?
NM_001386682.1:c.903dup	NP_001373611.1:p.Ala302SerfsTer?
NM_001386685.1:c.903dup	NP_001373614.1:p.Ala302SerfsTer?
NM_001386686.1:c.903dup	NP_001373615.1:p.Ala302SerfsTer?
NM_001386687.1:c.903dup	NP_001373616.1:p.Ala302SerfsTer?
NM_001386688.1:c.903dup	NP_001373617.1:p.Ala302SerfsTer?
NM_001386689.1:c.903dup	NP_001373618.1:p.Ala302SerfsTer?
NM_001386690.1:c.903dup	NP_001373619.1:p.Ala302SerfsTer?
NM_001386691.1:c.903dup	NP_001373620.1:p.Ala302SerfsTer?
NR_170162.1:n.1148dup
NR_170163.1:n.1206dup