Canonical Allele Identifier: CA2739270886

Gene: ACAT1

Linked Data

• ClinVar Variation Id: 2874868
• ClinVar RCV Id: RCV003605576

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108135262C>T , CM000673.2:g.108135262C>T	GRCh38
NC_000011.9:g.108005989C>T , CM000673.1:g.108005989C>T	GRCh37
NC_000011.8:g.107511199C>T	NCBI36
NG_009888.1:g.18732C>T
NG_009888.2:g.23558C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265838.9:c.435+20C>T MANE Select	ENSP00000265838.4:n.435+20C>T
ENST00000671707.1:n.530+20C>T
ENST00000672008.1:c.314+966C>T	ENSP00000500499.1:n.314+966C>T
ENST00000672031.1:c.435+20C>T	ENSP00000500463.1:n.435+20C>T
ENST00000672284.1:c.165+20C>T	ENSP00000500444.1:n.165+20C>T
ENST00000672354.1:c.435+20C>T	ENSP00000500490.1:n.435+20C>T
ENST00000672367.1:c.73-3636C>T	ENSP00000500209.1:n.73-3636C>T
ENST00000672580.1:c.435+20C>T	ENSP00000500366.1:n.435+20C>T
ENST00000672907.1:c.120+3308C>T	ENSP00000500928.1:n.120+3308C>T
ENST00000673000.1:n.523+20C>T
ENST00000673531.1:c.165+20C>T	ENSP00000500163.1:n.165+20C>T
ENST00000265838.8:c.435+20C>T	ENSP00000265838.4:n.435+20C>T
ENST00000299355.10:c.435+20C>T	ENSP00000299355.6:n.435+20C>T
ENST00000528370.1:c.241+20C>T
ENST00000531813.5:c.334+946C>T	ENSP00000435965.1:n.334+946C>T
NM_000019.3:c.435+20C>T	NP_000010.1:n.435+20C>T
XM_006718834.2:c.165+20C>T	XP_006718897.1:n.165+20C>T
XM_006718835.2:c.165+20C>T	XP_006718898.1:n.165+20C>T
XM_006718835.3:c.165+20C>T	XP_006718898.1:n.165+20C>T
XM_017017681.1:c.165+20C>T	XP_016873170.1:n.165+20C>T
XM_017017682.2:c.57+946C>T	XP_016873171.1:n.57+946C>T
XM_017017683.2:c.57+946C>T	XP_016873172.1:n.57+946C>T
XM_024448511.1:c.165+20C>T	XP_024304279.1:n.165+20C>T
XM_024448512.1:c.165+20C>T	XP_024304280.1:n.165+20C>T
XM_024448513.1:c.165+20C>T	XP_024304281.1:n.165+20C>T
XM_024448514.1:c.165+20C>T	XP_024304282.1:n.165+20C>T
XM_024448515.1:c.165+20C>T	XP_024304283.1:n.165+20C>T
NM_000019.4:c.435+20C>T MANE Select	NP_000010.1:n.435+20C>T
NM_001386677.1:c.435+20C>T	NP_001373606.1:n.435+20C>T
NM_001386678.1:c.120+3308C>T	NP_001373607.1:n.120+3308C>T
NM_001386679.1:c.138+20C>T	NP_001373608.1:n.138+20C>T
NM_001386681.1:c.165+20C>T	NP_001373610.1:n.165+20C>T
NM_001386682.1:c.165+20C>T	NP_001373611.1:n.165+20C>T
NM_001386685.1:c.165+20C>T	NP_001373614.1:n.165+20C>T
NM_001386686.1:c.165+20C>T	NP_001373615.1:n.165+20C>T
NM_001386687.1:c.165+20C>T	NP_001373616.1:n.165+20C>T
NM_001386688.1:c.165+20C>T	NP_001373617.1:n.165+20C>T
NM_001386689.1:c.165+20C>T	NP_001373618.1:n.165+20C>T
NM_001386690.1:c.165+20C>T	NP_001373619.1:n.165+20C>T
NM_001386691.1:c.165+20C>T	NP_001373620.1:n.165+20C>T
NR_170162.1:n.475+20C>T
NR_170163.1:n.468+946C>T