Canonical Allele Identifier: CA915947697

Gene: ACAT1

Linked Data

• ClinVar Variation Id: 666521
• ClinVar RCV Id: RCV000844829
• dbSNP Id: rs1591374544

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108146209_108146212dup , CM000673.2:g.108146209_108146212dup	GRCh38
NC_000011.9:g.108016936_108016939dup , CM000673.1:g.108016936_108016939dup	GRCh37
NC_000011.8:g.107522146_107522149dup	NCBI36
NG_009888.1:g.29679_29682dup
NG_009888.2:g.34505_34508dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265838.9:c.1013_1016dup MANE Select	ENSP00000265838.4:p.Asp339GlufsTer17
ENST00000671707.1:n.1108_1111dup
ENST00000672031.1:c.948_*3dup	ENSP00000500463.1:n.948_*3dup
ENST00000672284.1:c.743_746dup	ENSP00000500444.1:p.Asp249GlufsTer17
ENST00000672354.1:c.1013_1016dup	ENSP00000500490.1:p.Asp339GlufsTer17
ENST00000672367.1:c.650_653dup	ENSP00000500209.1:p.Asp218GlufsTer17
ENST00000672580.1:c.*268_*271dup	ENSP00000500366.1:n.*268_*271dup
ENST00000672907.1:c.698_701dup	ENSP00000500928.1:p.Asp234GlufsTer17
ENST00000673000.1:n.1101_1104dup
ENST00000673531.1:c.743_746dup	ENSP00000500163.1:p.Asp249GlufsTer17
ENST00000265838.8:c.1013_1016dup	ENSP00000265838.4:p.Asp339GlufsTer17
ENST00000533597.1:n.89_92dup
NM_000019.3:c.1013_1016dup	NP_000010.1:p.Asp339GlufsTer17
XM_006718834.2:c.743_746dup	XP_006718897.1:p.Asp249GlufsTer17
XM_006718835.2:c.743_746dup	XP_006718898.1:p.Asp249GlufsTer17
XM_006718835.3:c.743_746dup	XP_006718898.1:p.Asp249GlufsTer17
XM_017017681.1:c.743_746dup	XP_016873170.1:p.Asp249GlufsTer17
XM_017017682.2:c.635_638dup	XP_016873171.1:p.Asp213GlufsTer17
XM_017017683.2:c.635_638dup	XP_016873172.1:p.Asp213GlufsTer17
XM_024448511.1:c.743_746dup	XP_024304279.1:p.Asp249GlufsTer17
XM_024448512.1:c.743_746dup	XP_024304280.1:p.Asp249GlufsTer17
XM_024448513.1:c.743_746dup	XP_024304281.1:p.Asp249GlufsTer17
XM_024448514.1:c.743_746dup	XP_024304282.1:p.Asp249GlufsTer17
XM_024448515.1:c.743_746dup	XP_024304283.1:p.Asp249GlufsTer17
NM_000019.4:c.1013_1016dup MANE Select	NP_000010.1:p.Asp339GlufsTer17
NM_001386677.1:c.1013_1016dup	NP_001373606.1:p.Asp339GlufsTer17
NM_001386678.1:c.698_701dup	NP_001373607.1:p.Asp234GlufsTer17
NM_001386679.1:c.716_719dup	NP_001373608.1:p.Asp240GlufsTer17
NM_001386681.1:c.743_746dup	NP_001373610.1:p.Asp249GlufsTer17
NM_001386682.1:c.743_746dup	NP_001373611.1:p.Asp249GlufsTer17
NM_001386685.1:c.743_746dup	NP_001373614.1:p.Asp249GlufsTer17
NM_001386686.1:c.743_746dup	NP_001373615.1:p.Asp249GlufsTer17
NM_001386687.1:c.743_746dup	NP_001373616.1:p.Asp249GlufsTer17
NM_001386688.1:c.743_746dup	NP_001373617.1:p.Asp249GlufsTer17
NM_001386689.1:c.743_746dup	NP_001373618.1:p.Asp249GlufsTer17
NM_001386690.1:c.743_746dup	NP_001373619.1:p.Asp249GlufsTer17
NM_001386691.1:c.743_746dup	NP_001373620.1:p.Asp249GlufsTer17
NR_170162.1:n.988_991dup
NR_170163.1:n.1046_1049dup