Canonical Allele Identifier: CA942010242

Gene: ACAT1

Linked Data

• dbSNP Id: rs2077733556
• gnomAD v3: 11-108147196-A-ATTGGAATAGAAACATT
• gnomAD v4: 11-108147196-A-ATTGGAATAGAAACATT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108147201_108147216dup , CM000673.2:g.108147201_108147216dup	GRCh38
NC_000011.9:g.108017928_108017943dup , CM000673.1:g.108017928_108017943dup	GRCh37
NC_000011.8:g.107523138_107523153dup	NCBI36
NG_009888.1:g.30671_30686dup
NG_009888.2:g.35497_35512dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000265838.9:c.1164-69_1164-54dup MANE Select	ENSP00000265838.4:n.1164-69_1164-54dup
ENST00000671707.1:n.1259-69_1259-54dup
ENST00000672031.1:c.*151-69_*151-54dup	ENSP00000500463.1:n.*151-69_*151-54dup
ENST00000672284.1:c.894-69_894-54dup	ENSP00000500444.1:n.894-69_894-54dup
ENST00000672354.1:c.1164-48_1164-33dup	ENSP00000500490.1:n.1164-48_1164-33dup
ENST00000672367.1:c.801-69_801-54dup	ENSP00000500209.1:n.801-69_801-54dup
ENST00000672580.1:c.*419-69_*419-54dup	ENSP00000500366.1:n.*419-69_*419-54dup
ENST00000672907.1:c.849-69_849-54dup	ENSP00000500928.1:n.849-69_849-54dup
ENST00000673000.1:n.1252-69_1252-54dup
ENST00000673531.1:c.894-69_894-54dup	ENSP00000500163.1:n.894-69_894-54dup
ENST00000265838.8:c.1164-69_1164-54dup	ENSP00000265838.4:n.1164-69_1164-54dup
ENST00000533597.1:n.240-69_240-54dup
NM_000019.3:c.1164-69_1164-54dup	NP_000010.1:n.1164-69_1164-54dup
XM_006718834.2:c.894-69_894-54dup	XP_006718897.1:n.894-69_894-54dup
XM_006718835.2:c.894-69_894-54dup	XP_006718898.1:n.894-69_894-54dup
XM_006718835.3:c.894-69_894-54dup	XP_006718898.1:n.894-69_894-54dup
XM_017017681.1:c.894-69_894-54dup	XP_016873170.1:n.894-69_894-54dup
XM_017017682.2:c.786-69_786-54dup	XP_016873171.1:n.786-69_786-54dup
XM_017017683.2:c.786-69_786-54dup	XP_016873172.1:n.786-69_786-54dup
XM_024448511.1:c.894-69_894-54dup	XP_024304279.1:n.894-69_894-54dup
XM_024448512.1:c.894-69_894-54dup	XP_024304280.1:n.894-69_894-54dup
XM_024448513.1:c.894-69_894-54dup	XP_024304281.1:n.894-69_894-54dup
XM_024448514.1:c.894-69_894-54dup	XP_024304282.1:n.894-69_894-54dup
XM_024448515.1:c.894-69_894-54dup	XP_024304283.1:n.894-69_894-54dup
NM_000019.4:c.1164-69_1164-54dup MANE Select	NP_000010.1:n.1164-69_1164-54dup
NM_001386677.1:c.1164-48_1164-33dup	NP_001373606.1:n.1164-48_1164-33dup
NM_001386678.1:c.849-69_849-54dup	NP_001373607.1:n.849-69_849-54dup
NM_001386679.1:c.867-69_867-54dup	NP_001373608.1:n.867-69_867-54dup
NM_001386681.1:c.894-69_894-54dup	NP_001373610.1:n.894-69_894-54dup
NM_001386682.1:c.894-69_894-54dup	NP_001373611.1:n.894-69_894-54dup
NM_001386685.1:c.894-69_894-54dup	NP_001373614.1:n.894-69_894-54dup
NM_001386686.1:c.894-69_894-54dup	NP_001373615.1:n.894-69_894-54dup
NM_001386687.1:c.894-69_894-54dup	NP_001373616.1:n.894-69_894-54dup
NM_001386688.1:c.894-69_894-54dup	NP_001373617.1:n.894-69_894-54dup
NM_001386689.1:c.894-69_894-54dup	NP_001373618.1:n.894-69_894-54dup
NM_001386690.1:c.894-69_894-54dup	NP_001373619.1:n.894-69_894-54dup
NM_001386691.1:c.894-69_894-54dup	NP_001373620.1:n.894-69_894-54dup
NR_170162.1:n.1139-69_1139-54dup
NR_170163.1:n.1197-69_1197-54dup