Canonical Allele Identifier: CA1998720451
Gene: ACAT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108146225A= , CM000673.2:g.108146225A= GRCh38
NC_000011.9:g.108016952A= , CM000673.1:g.108016952A= GRCh37
NC_000011.8:g.107522162A= NCBI36
NG_009888.1:g.29695A=
NG_009888.2:g.34521A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265838.9:c.1029A= MANE Select ENSP00000265838.4:p.Lys343=
ENST00000671707.1:n.1124A=
ENST00000672031.1:c.*16A= ENSP00000500463.1:n.*16A=
ENST00000672284.1:c.759A= ENSP00000500444.1:p.Lys253=
ENST00000672354.1:c.1029A= ENSP00000500490.1:p.Lys343=
ENST00000672367.1:c.666A= ENSP00000500209.1:p.Lys222=
ENST00000672580.1:c.*284A= ENSP00000500366.1:n.*284A=
ENST00000672907.1:c.714A= ENSP00000500928.1:p.Lys238=
ENST00000673000.1:n.1117A=
ENST00000673531.1:c.759A= ENSP00000500163.1:p.Lys253=
ENST00000265838.8:c.1029A= ENSP00000265838.4:p.Lys343=
ENST00000533597.1:n.105A=
NM_000019.3:c.1029A= NP_000010.1:p.Lys343=
XM_006718834.2:c.759A= XP_006718897.1:p.Lys253=
XM_006718835.2:c.759A= XP_006718898.1:p.Lys253=
XM_006718835.3:c.759A= XP_006718898.1:p.Lys253=
XM_017017681.1:c.759A= XP_016873170.1:p.Lys253=
XM_017017682.2:c.651A= XP_016873171.1:p.Lys217=
XM_017017683.2:c.651A= XP_016873172.1:p.Lys217=
XM_024448511.1:c.759A= XP_024304279.1:p.Lys253=
XM_024448512.1:c.759A= XP_024304280.1:p.Lys253=
XM_024448513.1:c.759A= XP_024304281.1:p.Lys253=
XM_024448514.1:c.759A= XP_024304282.1:p.Lys253=
XM_024448515.1:c.759A= XP_024304283.1:p.Lys253=
NM_000019.4:c.1029A= MANE Select NP_000010.1:p.Lys343=
NM_001386677.1:c.1029A= NP_001373606.1:p.Lys343=
NM_001386678.1:c.714A= NP_001373607.1:p.Lys238=
NM_001386679.1:c.732A= NP_001373608.1:p.Lys244=
NM_001386681.1:c.759A= NP_001373610.1:p.Lys253=
NM_001386682.1:c.759A= NP_001373611.1:p.Lys253=
NM_001386685.1:c.759A= NP_001373614.1:p.Lys253=
NM_001386686.1:c.759A= NP_001373615.1:p.Lys253=
NM_001386687.1:c.759A= NP_001373616.1:p.Lys253=
NM_001386688.1:c.759A= NP_001373617.1:p.Lys253=
NM_001386689.1:c.759A= NP_001373618.1:p.Lys253=
NM_001386690.1:c.759A= NP_001373619.1:p.Lys253=
NM_001386691.1:c.759A= NP_001373620.1:p.Lys253=
NR_170162.1:n.1004A=
NR_170163.1:n.1062A=