Canonical Allele Identifier: CA252471
Gene: ACAT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2845
ClinVar RCV Id: RCV000002979
dbSNP Id: rs120074147

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108144039G>C , CM000673.2:g.108144039G>C GRCh38
NC_000011.9:g.108014766G>C , CM000673.1:g.108014766G>C GRCh37
NC_000011.8:g.107519976G>C NCBI36
NG_009888.1:g.27509G>C
NG_009888.2:g.32335G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265838.9:c.997G>C MANE Select ENSP00000265838.4:p.Ala333Pro
ENST00000671707.1:n.1092G>C
ENST00000672031.1:c.940+1489G>C ENSP00000500463.1:n.940+1489G>C
ENST00000672284.1:c.727G>C ENSP00000500444.1:p.Ala243Pro
ENST00000672354.1:c.997G>C ENSP00000500490.1:p.Ala333Pro
ENST00000672367.1:c.634G>C ENSP00000500209.1:p.Ala212Pro
ENST00000672580.1:c.*252G>C ENSP00000500366.1:n.*252G>C
ENST00000672907.1:c.682G>C ENSP00000500928.1:p.Ala228Pro
ENST00000673000.1:n.1085G>C
ENST00000673531.1:c.727G>C ENSP00000500163.1:p.Ala243Pro
ENST00000265838.8:c.997G>C ENSP00000265838.4:p.Ala333Pro
ENST00000532792.5:n.492G>C
ENST00000533610.1:n.458G>C
NM_000019.3:c.997G>C NP_000010.1:p.Ala333Pro
XM_006718834.2:c.727G>C XP_006718897.1:p.Ala243Pro
XM_006718835.2:c.727G>C XP_006718898.1:p.Ala243Pro
XM_006718835.3:c.727G>C XP_006718898.1:p.Ala243Pro
XM_017017681.1:c.727G>C XP_016873170.1:p.Ala243Pro
XM_017017682.2:c.619G>C XP_016873171.1:p.Ala207Pro
XM_017017683.2:c.619G>C XP_016873172.1:p.Ala207Pro
XM_024448511.1:c.727G>C XP_024304279.1:p.Ala243Pro
XM_024448512.1:c.727G>C XP_024304280.1:p.Ala243Pro
XM_024448513.1:c.727G>C XP_024304281.1:p.Ala243Pro
XM_024448514.1:c.727G>C XP_024304282.1:p.Ala243Pro
XM_024448515.1:c.727G>C XP_024304283.1:p.Ala243Pro
NM_000019.4:c.997G>C MANE Select NP_000010.1:p.Ala333Pro
NM_001386677.1:c.997G>C NP_001373606.1:p.Ala333Pro
NM_001386678.1:c.682G>C NP_001373607.1:p.Ala228Pro
NM_001386679.1:c.700G>C NP_001373608.1:p.Ala234Pro
NM_001386681.1:c.727G>C NP_001373610.1:p.Ala243Pro
NM_001386682.1:c.727G>C NP_001373611.1:p.Ala243Pro
NM_001386685.1:c.727G>C NP_001373614.1:p.Ala243Pro
NM_001386686.1:c.727G>C NP_001373615.1:p.Ala243Pro
NM_001386687.1:c.727G>C NP_001373616.1:p.Ala243Pro
NM_001386688.1:c.727G>C NP_001373617.1:p.Ala243Pro
NM_001386689.1:c.727G>C NP_001373618.1:p.Ala243Pro
NM_001386690.1:c.727G>C NP_001373619.1:p.Ala243Pro
NM_001386691.1:c.727G>C NP_001373620.1:p.Ala243Pro
NR_170162.1:n.980+1489G>C
NR_170163.1:n.1030G>C