Canonical Allele Identifier: CA6263371
Gene: ACAT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 429773
dbSNP Id: rs748303093

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108146356T>C , CM000673.2:g.108146356T>C GRCh38
NC_000011.9:g.108017083T>C , CM000673.1:g.108017083T>C GRCh37
NC_000011.8:g.107522293T>C NCBI36
NG_009888.1:g.29826T>C
NG_009888.2:g.34652T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265838.9:c.1160T>C MANE Select ENSP00000265838.4:p.Ile387Thr
ENST00000671707.1:n.1255T>C
ENST00000672031.1:c.*147T>C ENSP00000500463.1:n.*147T>C
ENST00000672284.1:c.890T>C ENSP00000500444.1:p.Ile297Thr
ENST00000672354.1:c.1160T>C ENSP00000500490.1:p.Ile387Thr
ENST00000672367.1:c.797T>C ENSP00000500209.1:p.Ile266Thr
ENST00000672580.1:c.*415T>C ENSP00000500366.1:n.*415T>C
ENST00000672907.1:c.845T>C ENSP00000500928.1:p.Ile282Thr
ENST00000673000.1:n.1248T>C
ENST00000673531.1:c.890T>C ENSP00000500163.1:p.Ile297Thr
ENST00000265838.8:c.1160T>C ENSP00000265838.4:p.Ile387Thr
ENST00000533597.1:n.236T>C
NM_000019.3:c.1160T>C NP_000010.1:p.Ile387Thr
XM_006718834.2:c.890T>C XP_006718897.1:p.Ile297Thr
XM_006718835.2:c.890T>C XP_006718898.1:p.Ile297Thr
XM_006718835.3:c.890T>C XP_006718898.1:p.Ile297Thr
XM_017017681.1:c.890T>C XP_016873170.1:p.Ile297Thr
XM_017017682.2:c.782T>C XP_016873171.1:p.Ile261Thr
XM_017017683.2:c.782T>C XP_016873172.1:p.Ile261Thr
XM_024448511.1:c.890T>C XP_024304279.1:p.Ile297Thr
XM_024448512.1:c.890T>C XP_024304280.1:p.Ile297Thr
XM_024448513.1:c.890T>C XP_024304281.1:p.Ile297Thr
XM_024448514.1:c.890T>C XP_024304282.1:p.Ile297Thr
XM_024448515.1:c.890T>C XP_024304283.1:p.Ile297Thr
NM_000019.4:c.1160T>C MANE Select NP_000010.1:p.Ile387Thr
NM_001386677.1:c.1160T>C NP_001373606.1:p.Ile387Thr
NM_001386678.1:c.845T>C NP_001373607.1:p.Ile282Thr
NM_001386679.1:c.863T>C NP_001373608.1:p.Ile288Thr
NM_001386681.1:c.890T>C NP_001373610.1:p.Ile297Thr
NM_001386682.1:c.890T>C NP_001373611.1:p.Ile297Thr
NM_001386685.1:c.890T>C NP_001373614.1:p.Ile297Thr
NM_001386686.1:c.890T>C NP_001373615.1:p.Ile297Thr
NM_001386687.1:c.890T>C NP_001373616.1:p.Ile297Thr
NM_001386688.1:c.890T>C NP_001373617.1:p.Ile297Thr
NM_001386689.1:c.890T>C NP_001373618.1:p.Ile297Thr
NM_001386690.1:c.890T>C NP_001373619.1:p.Ile297Thr
NM_001386691.1:c.890T>C NP_001373620.1:p.Ile297Thr
NR_170162.1:n.1135T>C
NR_170163.1:n.1193T>C