Canonical Allele Identifier: CA2573146383

Gene: ACAT1

Linked Data

• ClinVar Variation Id: 1438212
• ClinVar RCV Id: RCV001957791
• dbSNP Id: rs2134791752

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108146324_108146327dup , CM000673.2:g.108146324_108146327dup	GRCh38
NC_000011.9:g.108017051_108017054dup , CM000673.1:g.108017051_108017054dup	GRCh37
NC_000011.8:g.107522261_107522264dup	NCBI36
NG_009888.1:g.29794_29797dup
NG_009888.2:g.34620_34623dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265838.9:c.1128_1131dup MANE Select	ENSP00000265838.4:p.Gly378GlnfsTer?
ENST00000671707.1:n.1223_1226dup
ENST00000672031.1:c.*115_*118dup	ENSP00000500463.1:n.*115_*118dup
ENST00000672284.1:c.858_861dup	ENSP00000500444.1:p.Gly288GlnfsTer?
ENST00000672354.1:c.1128_1131dup	ENSP00000500490.1:p.Gly378GlnfsTer13
ENST00000672367.1:c.765_768dup	ENSP00000500209.1:p.Gly257GlnfsTer?
ENST00000672580.1:c.*383_*386dup	ENSP00000500366.1:n.*383_*386dup
ENST00000672907.1:c.813_816dup	ENSP00000500928.1:p.Gly273GlnfsTer?
ENST00000673000.1:n.1216_1219dup
ENST00000673531.1:c.858_861dup	ENSP00000500163.1:p.Gly288GlnfsTer?
ENST00000265838.8:c.1128_1131dup	ENSP00000265838.4:p.Gly378GlnfsTer?
ENST00000533597.1:n.204_207dup
NM_000019.3:c.1128_1131dup	NP_000010.1:p.Gly378GlnfsTer?
XM_006718834.2:c.858_861dup	XP_006718897.1:p.Gly288GlnfsTer?
XM_006718835.2:c.858_861dup	XP_006718898.1:p.Gly288GlnfsTer?
XM_006718835.3:c.858_861dup	XP_006718898.1:p.Gly288GlnfsTer?
XM_017017681.1:c.858_861dup	XP_016873170.1:p.Gly288GlnfsTer?
XM_017017682.2:c.750_753dup	XP_016873171.1:p.Gly252GlnfsTer?
XM_017017683.2:c.750_753dup	XP_016873172.1:p.Gly252GlnfsTer?
XM_024448511.1:c.858_861dup	XP_024304279.1:p.Gly288GlnfsTer?
XM_024448512.1:c.858_861dup	XP_024304280.1:p.Gly288GlnfsTer?
XM_024448513.1:c.858_861dup	XP_024304281.1:p.Gly288GlnfsTer?
XM_024448514.1:c.858_861dup	XP_024304282.1:p.Gly288GlnfsTer?
XM_024448515.1:c.858_861dup	XP_024304283.1:p.Gly288GlnfsTer?
NM_000019.4:c.1128_1131dup MANE Select	NP_000010.1:p.Gly378GlnfsTer?
NM_001386677.1:c.1128_1131dup	NP_001373606.1:p.Gly378GlnfsTer13
NM_001386678.1:c.813_816dup	NP_001373607.1:p.Gly273GlnfsTer?
NM_001386679.1:c.831_834dup	NP_001373608.1:p.Gly279GlnfsTer?
NM_001386681.1:c.858_861dup	NP_001373610.1:p.Gly288GlnfsTer?
NM_001386682.1:c.858_861dup	NP_001373611.1:p.Gly288GlnfsTer?
NM_001386685.1:c.858_861dup	NP_001373614.1:p.Gly288GlnfsTer?
NM_001386686.1:c.858_861dup	NP_001373615.1:p.Gly288GlnfsTer?
NM_001386687.1:c.858_861dup	NP_001373616.1:p.Gly288GlnfsTer?
NM_001386688.1:c.858_861dup	NP_001373617.1:p.Gly288GlnfsTer?
NM_001386689.1:c.858_861dup	NP_001373618.1:p.Gly288GlnfsTer?
NM_001386690.1:c.858_861dup	NP_001373619.1:p.Gly288GlnfsTer?
NM_001386691.1:c.858_861dup	NP_001373620.1:p.Gly288GlnfsTer?
NR_170162.1:n.1103_1106dup
NR_170163.1:n.1161_1164dup