Canonical Allele Identifier: CA382507715
Gene: ACAT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108141604G>C , CM000673.2:g.108141604G>C GRCh38
NC_000011.9:g.108012331G>C , CM000673.1:g.108012331G>C GRCh37
NC_000011.8:g.107517541G>C NCBI36
NG_009888.1:g.25074G>C
NG_009888.2:g.29900G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000265838.9:c.731-1G>C MANE Select ENSP00000265838.4:n.731-1G>C
ENST00000671707.1:n.826-1G>C
ENST00000672008.1:c.*289-1G>C ENSP00000500499.1:n.*289-1G>C
ENST00000672031.1:c.731-1G>C ENSP00000500463.1:n.731-1G>C
ENST00000672284.1:c.461-1G>C ENSP00000500444.1:n.461-1G>C
ENST00000672354.1:c.731-1G>C ENSP00000500490.1:n.731-1G>C
ENST00000672367.1:c.368-1G>C ENSP00000500209.1:n.368-1G>C
ENST00000672580.1:c.580-1G>C ENSP00000500366.1:n.580-1G>C
ENST00000672907.1:c.416-1G>C ENSP00000500928.1:n.416-1G>C
ENST00000673000.1:n.819-1G>C
ENST00000673531.1:c.461-1G>C ENSP00000500163.1:n.461-1G>C
ENST00000265838.8:c.731-1G>C ENSP00000265838.4:n.731-1G>C
ENST00000531813.5:c.*204-1G>C ENSP00000435965.1:n.*204-1G>C
ENST00000532792.5:n.226-1G>C
ENST00000533610.1:n.192-1G>C
NM_000019.3:c.731-1G>C NP_000010.1:n.731-1G>C
XM_006718834.2:c.461-1G>C XP_006718897.1:n.461-1G>C
XM_006718835.2:c.461-1G>C XP_006718898.1:n.461-1G>C
XM_006718835.3:c.461-1G>C XP_006718898.1:n.461-1G>C
XM_017017681.1:c.461-1G>C XP_016873170.1:n.461-1G>C
XM_017017682.2:c.353-1G>C XP_016873171.1:n.353-1G>C
XM_017017683.2:c.353-1G>C XP_016873172.1:n.353-1G>C
XM_024448511.1:c.461-1G>C XP_024304279.1:n.461-1G>C
XM_024448512.1:c.461-1G>C XP_024304280.1:n.461-1G>C
XM_024448513.1:c.461-1G>C XP_024304281.1:n.461-1G>C
XM_024448514.1:c.461-1G>C XP_024304282.1:n.461-1G>C
XM_024448515.1:c.461-1G>C XP_024304283.1:n.461-1G>C
NM_000019.4:c.731-1G>C MANE Select NP_000010.1:n.731-1G>C
NM_001386677.1:c.731-1G>C NP_001373606.1:n.731-1G>C
NM_001386678.1:c.416-1G>C NP_001373607.1:n.416-1G>C
NM_001386679.1:c.434-1G>C NP_001373608.1:n.434-1G>C
NM_001386681.1:c.461-1G>C NP_001373610.1:n.461-1G>C
NM_001386682.1:c.461-1G>C NP_001373611.1:n.461-1G>C
NM_001386685.1:c.461-1G>C NP_001373614.1:n.461-1G>C
NM_001386686.1:c.461-1G>C NP_001373615.1:n.461-1G>C
NM_001386687.1:c.461-1G>C NP_001373616.1:n.461-1G>C
NM_001386688.1:c.461-1G>C NP_001373617.1:n.461-1G>C
NM_001386689.1:c.461-1G>C NP_001373618.1:n.461-1G>C
NM_001386690.1:c.461-1G>C NP_001373619.1:n.461-1G>C
NM_001386691.1:c.461-1G>C NP_001373620.1:n.461-1G>C
NR_170162.1:n.771-1G>C
NR_170163.1:n.764-1G>C