Canonical Allele Identifier: CA382508161

Gene: ACAT1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108142545T>G , CM000673.2:g.108142545T>G	GRCh38
NC_000011.9:g.108013272T>G , CM000673.1:g.108013272T>G	GRCh37
NC_000011.8:g.107518482T>G	NCBI36
NG_009888.1:g.26015T>G
NG_009888.2:g.30841T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265838.9:c.935T>G MANE Select	ENSP00000265838.4:p.Ile312Arg
ENST00000671707.1:n.1030T>G
ENST00000672031.1:c.935T>G	ENSP00000500463.1:p.Ile312Arg
ENST00000672284.1:c.665T>G	ENSP00000500444.1:p.Ile222Arg
ENST00000672354.1:c.935T>G	ENSP00000500490.1:p.Ile312Arg
ENST00000672367.1:c.572T>G	ENSP00000500209.1:p.Ile191Arg
ENST00000672580.1:c.*190T>G	ENSP00000500366.1:n.*190T>G
ENST00000672907.1:c.620T>G	ENSP00000500928.1:p.Ile207Arg
ENST00000673000.1:n.1023T>G
ENST00000673531.1:c.665T>G	ENSP00000500163.1:p.Ile222Arg
ENST00000265838.8:c.935T>G	ENSP00000265838.4:p.Ile312Arg
ENST00000531813.5:c.*408T>G	ENSP00000435965.1:n.*408T>G
ENST00000532792.5:n.430T>G
ENST00000533610.1:n.396T>G
NM_000019.3:c.935T>G	NP_000010.1:p.Ile312Arg
XM_006718834.2:c.665T>G	XP_006718897.1:p.Ile222Arg
XM_006718835.2:c.665T>G	XP_006718898.1:p.Ile222Arg
XM_006718835.3:c.665T>G	XP_006718898.1:p.Ile222Arg
XM_017017681.1:c.665T>G	XP_016873170.1:p.Ile222Arg
XM_017017682.2:c.557T>G	XP_016873171.1:p.Ile186Arg
XM_017017683.2:c.557T>G	XP_016873172.1:p.Ile186Arg
XM_024448511.1:c.665T>G	XP_024304279.1:p.Ile222Arg
XM_024448512.1:c.665T>G	XP_024304280.1:p.Ile222Arg
XM_024448513.1:c.665T>G	XP_024304281.1:p.Ile222Arg
XM_024448514.1:c.665T>G	XP_024304282.1:p.Ile222Arg
XM_024448515.1:c.665T>G	XP_024304283.1:p.Ile222Arg
NM_000019.4:c.935T>G MANE Select	NP_000010.1:p.Ile312Arg
NM_001386677.1:c.935T>G	NP_001373606.1:p.Ile312Arg
NM_001386678.1:c.620T>G	NP_001373607.1:p.Ile207Arg
NM_001386679.1:c.638T>G	NP_001373608.1:p.Ile213Arg
NM_001386681.1:c.665T>G	NP_001373610.1:p.Ile222Arg
NM_001386682.1:c.665T>G	NP_001373611.1:p.Ile222Arg
NM_001386685.1:c.665T>G	NP_001373614.1:p.Ile222Arg
NM_001386686.1:c.665T>G	NP_001373615.1:p.Ile222Arg
NM_001386687.1:c.665T>G	NP_001373616.1:p.Ile222Arg
NM_001386688.1:c.665T>G	NP_001373617.1:p.Ile222Arg
NM_001386689.1:c.665T>G	NP_001373618.1:p.Ile222Arg
NM_001386690.1:c.665T>G	NP_001373619.1:p.Ile222Arg
NM_001386691.1:c.665T>G	NP_001373620.1:p.Ile222Arg
NR_170162.1:n.975T>G
NR_170163.1:n.968T>G