Canonical Allele Identifier: CA942015592

Gene: ACAT1

Linked Data

• dbSNP Id: rs748649526
• gnomAD v3: 11-108141703-T-C
• gnomAD v4: 11-108141703-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108141703T>C , CM000673.2:g.108141703T>C	GRCh38
NC_000011.9:g.108012430T>C , CM000673.1:g.108012430T>C	GRCh37
NC_000011.8:g.107517640T>C	NCBI36
NG_009888.1:g.25173T>C
NG_009888.2:g.29999T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265838.9:c.826+3T>C MANE Select	ENSP00000265838.4:n.826+3T>C
ENST00000671707.1:n.921+3T>C
ENST00000672031.1:c.826+3T>C	ENSP00000500463.1:n.826+3T>C
ENST00000672284.1:c.556+3T>C	ENSP00000500444.1:n.556+3T>C
ENST00000672354.1:c.826+3T>C	ENSP00000500490.1:n.826+3T>C
ENST00000672367.1:c.463+3T>C	ENSP00000500209.1:n.463+3T>C
ENST00000672580.1:c.*81+3T>C	ENSP00000500366.1:n.*81+3T>C
ENST00000672907.1:c.511+3T>C	ENSP00000500928.1:n.511+3T>C
ENST00000673000.1:n.914+3T>C
ENST00000673531.1:c.556+3T>C	ENSP00000500163.1:n.556+3T>C
ENST00000265838.8:c.826+3T>C	ENSP00000265838.4:n.826+3T>C
ENST00000531813.5:c.*299+3T>C	ENSP00000435965.1:n.*299+3T>C
ENST00000532792.5:n.321+3T>C
ENST00000533610.1:n.287+3T>C
NM_000019.3:c.826+3T>C	NP_000010.1:n.826+3T>C
XM_006718834.2:c.556+3T>C	XP_006718897.1:n.556+3T>C
XM_006718835.2:c.556+3T>C	XP_006718898.1:n.556+3T>C
XM_006718835.3:c.556+3T>C	XP_006718898.1:n.556+3T>C
XM_017017681.1:c.556+3T>C	XP_016873170.1:n.556+3T>C
XM_017017682.2:c.448+3T>C	XP_016873171.1:n.448+3T>C
XM_017017683.2:c.448+3T>C	XP_016873172.1:n.448+3T>C
XM_024448511.1:c.556+3T>C	XP_024304279.1:n.556+3T>C
XM_024448512.1:c.556+3T>C	XP_024304280.1:n.556+3T>C
XM_024448513.1:c.556+3T>C	XP_024304281.1:n.556+3T>C
XM_024448514.1:c.556+3T>C	XP_024304282.1:n.556+3T>C
XM_024448515.1:c.556+3T>C	XP_024304283.1:n.556+3T>C
NM_000019.4:c.826+3T>C MANE Select	NP_000010.1:n.826+3T>C
NM_001386677.1:c.826+3T>C	NP_001373606.1:n.826+3T>C
NM_001386678.1:c.511+3T>C	NP_001373607.1:n.511+3T>C
NM_001386679.1:c.529+3T>C	NP_001373608.1:n.529+3T>C
NM_001386681.1:c.556+3T>C	NP_001373610.1:n.556+3T>C
NM_001386682.1:c.556+3T>C	NP_001373611.1:n.556+3T>C
NM_001386685.1:c.556+3T>C	NP_001373614.1:n.556+3T>C
NM_001386686.1:c.556+3T>C	NP_001373615.1:n.556+3T>C
NM_001386687.1:c.556+3T>C	NP_001373616.1:n.556+3T>C
NM_001386688.1:c.556+3T>C	NP_001373617.1:n.556+3T>C
NM_001386689.1:c.556+3T>C	NP_001373618.1:n.556+3T>C
NM_001386690.1:c.556+3T>C	NP_001373619.1:n.556+3T>C
NM_001386691.1:c.556+3T>C	NP_001373620.1:n.556+3T>C
NR_170162.1:n.866+3T>C
NR_170163.1:n.859+3T>C