Canonical Allele Identifier: CA252461
Gene: ACAT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2832
ClinVar RCV Id: RCV000002966
dbSNP Id: rs120074140

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108146334G>A , CM000673.2:g.108146334G>A GRCh38
NC_000011.9:g.108017061G>A , CM000673.1:g.108017061G>A GRCh37
NC_000011.8:g.107522271G>A NCBI36
NG_009888.1:g.29804G>A
NG_009888.2:g.34630G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265838.9:c.1138G>A MANE Select ENSP00000265838.4:p.Ala380Thr
ENST00000671707.1:n.1233G>A
ENST00000672031.1:c.*125G>A ENSP00000500463.1:n.*125G>A
ENST00000672284.1:c.868G>A ENSP00000500444.1:p.Ala290Thr
ENST00000672354.1:c.1138G>A ENSP00000500490.1:p.Ala380Thr
ENST00000672367.1:c.775G>A ENSP00000500209.1:p.Ala259Thr
ENST00000672580.1:c.*393G>A ENSP00000500366.1:n.*393G>A
ENST00000672907.1:c.823G>A ENSP00000500928.1:p.Ala275Thr
ENST00000673000.1:n.1226G>A
ENST00000673531.1:c.868G>A ENSP00000500163.1:p.Ala290Thr
ENST00000265838.8:c.1138G>A ENSP00000265838.4:p.Ala380Thr
ENST00000533597.1:n.214G>A
NM_000019.3:c.1138G>A NP_000010.1:p.Ala380Thr
XM_006718834.2:c.868G>A XP_006718897.1:p.Ala290Thr
XM_006718835.2:c.868G>A XP_006718898.1:p.Ala290Thr
XM_006718835.3:c.868G>A XP_006718898.1:p.Ala290Thr
XM_017017681.1:c.868G>A XP_016873170.1:p.Ala290Thr
XM_017017682.2:c.760G>A XP_016873171.1:p.Ala254Thr
XM_017017683.2:c.760G>A XP_016873172.1:p.Ala254Thr
XM_024448511.1:c.868G>A XP_024304279.1:p.Ala290Thr
XM_024448512.1:c.868G>A XP_024304280.1:p.Ala290Thr
XM_024448513.1:c.868G>A XP_024304281.1:p.Ala290Thr
XM_024448514.1:c.868G>A XP_024304282.1:p.Ala290Thr
XM_024448515.1:c.868G>A XP_024304283.1:p.Ala290Thr
NM_000019.4:c.1138G>A MANE Select NP_000010.1:p.Ala380Thr
NM_001386677.1:c.1138G>A NP_001373606.1:p.Ala380Thr
NM_001386678.1:c.823G>A NP_001373607.1:p.Ala275Thr
NM_001386679.1:c.841G>A NP_001373608.1:p.Ala281Thr
NM_001386681.1:c.868G>A NP_001373610.1:p.Ala290Thr
NM_001386682.1:c.868G>A NP_001373611.1:p.Ala290Thr
NM_001386685.1:c.868G>A NP_001373614.1:p.Ala290Thr
NM_001386686.1:c.868G>A NP_001373615.1:p.Ala290Thr
NM_001386687.1:c.868G>A NP_001373616.1:p.Ala290Thr
NM_001386688.1:c.868G>A NP_001373617.1:p.Ala290Thr
NM_001386689.1:c.868G>A NP_001373618.1:p.Ala290Thr
NM_001386690.1:c.868G>A NP_001373619.1:p.Ala290Thr
NM_001386691.1:c.868G>A NP_001373620.1:p.Ala290Thr
NR_170162.1:n.1113G>A
NR_170163.1:n.1171G>A