Canonical Allele Identifier: CA220227
Gene: ACAT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 92298
dbSNP Id: rs398123096

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108140217T>C , CM000673.2:g.108140217T>C GRCh38
NC_000011.9:g.108010944T>C , CM000673.1:g.108010944T>C GRCh37
NC_000011.8:g.107516154T>C NCBI36
NG_009888.1:g.23687T>C
NG_009888.2:g.28513T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000265838.9:c.730+2T>C MANE Select ENSP00000265838.4:n.730+2T>C
ENST00000671707.1:n.825+2T>C
ENST00000672008.1:c.*288+2T>C ENSP00000500499.1:n.*288+2T>C
ENST00000672031.1:c.730+2T>C ENSP00000500463.1:n.730+2T>C
ENST00000672284.1:c.460+2T>C ENSP00000500444.1:n.460+2T>C
ENST00000672354.1:c.730+2T>C ENSP00000500490.1:n.730+2T>C
ENST00000672367.1:c.367+2T>C ENSP00000500209.1:n.367+2T>C
ENST00000672580.1:c.579+1176T>C ENSP00000500366.1:n.579+1176T>C
ENST00000672907.1:c.415+2T>C ENSP00000500928.1:n.415+2T>C
ENST00000673000.1:n.818+2T>C
ENST00000673531.1:c.460+2T>C ENSP00000500163.1:n.460+2T>C
ENST00000265838.8:c.730+2T>C ENSP00000265838.4:n.730+2T>C
ENST00000531813.5:c.*203+2T>C ENSP00000435965.1:n.*203+2T>C
ENST00000532792.5:n.225+2T>C
ENST00000533610.1:n.191+2T>C
NM_000019.3:c.730+2T>C NP_000010.1:n.730+2T>C
XM_006718834.2:c.460+2T>C XP_006718897.1:n.460+2T>C
XM_006718835.2:c.460+2T>C XP_006718898.1:n.460+2T>C
XM_006718835.3:c.460+2T>C XP_006718898.1:n.460+2T>C
XM_017017681.1:c.460+2T>C XP_016873170.1:n.460+2T>C
XM_017017682.2:c.352+2T>C XP_016873171.1:n.352+2T>C
XM_017017683.2:c.352+2T>C XP_016873172.1:n.352+2T>C
XM_024448511.1:c.460+2T>C XP_024304279.1:n.460+2T>C
XM_024448512.1:c.460+2T>C XP_024304280.1:n.460+2T>C
XM_024448513.1:c.460+2T>C XP_024304281.1:n.460+2T>C
XM_024448514.1:c.460+2T>C XP_024304282.1:n.460+2T>C
XM_024448515.1:c.460+2T>C XP_024304283.1:n.460+2T>C
NM_000019.4:c.730+2T>C MANE Select NP_000010.1:n.730+2T>C
NM_001386677.1:c.730+2T>C NP_001373606.1:n.730+2T>C
NM_001386678.1:c.415+2T>C NP_001373607.1:n.415+2T>C
NM_001386679.1:c.433+2T>C NP_001373608.1:n.433+2T>C
NM_001386681.1:c.460+2T>C NP_001373610.1:n.460+2T>C
NM_001386682.1:c.460+2T>C NP_001373611.1:n.460+2T>C
NM_001386685.1:c.460+2T>C NP_001373614.1:n.460+2T>C
NM_001386686.1:c.460+2T>C NP_001373615.1:n.460+2T>C
NM_001386687.1:c.460+2T>C NP_001373616.1:n.460+2T>C
NM_001386688.1:c.460+2T>C NP_001373617.1:n.460+2T>C
NM_001386689.1:c.460+2T>C NP_001373618.1:n.460+2T>C
NM_001386690.1:c.460+2T>C NP_001373619.1:n.460+2T>C
NM_001386691.1:c.460+2T>C NP_001373620.1:n.460+2T>C
NR_170162.1:n.770+2T>C
NR_170163.1:n.763+2T>C