Canonical Allele Identifier: CA2793550169
Gene: ACAT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108146179_108146182dup , CM000673.2:g.108146179_108146182dup GRCh38
NC_000011.9:g.108016906_108016909dup , CM000673.1:g.108016906_108016909dup GRCh37
NC_000011.8:g.107522116_107522119dup NCBI36
NG_009888.1:g.29649_29652dup
NG_009888.2:g.34475_34478dup

Transcript Alleles

HGVS Amino-acid change
ENST00000265838.9:c.1006-23_1006-20dup MANE Select ENSP00000265838.4:n.1006-23_1006-20dup
ENST00000671707.1:n.1101-23_1101-20dup
ENST00000672031.1:c.941-23_941-20dup ENSP00000500463.1:n.941-23_941-20dup
ENST00000672284.1:c.736-23_736-20dup ENSP00000500444.1:n.736-23_736-20dup
ENST00000672354.1:c.1006-23_1006-20dup ENSP00000500490.1:n.1006-23_1006-20dup
ENST00000672367.1:c.643-23_643-20dup ENSP00000500209.1:n.643-23_643-20dup
ENST00000672580.1:c.*261-23_*261-20dup ENSP00000500366.1:n.*261-23_*261-20dup
ENST00000672907.1:c.691-23_691-20dup ENSP00000500928.1:n.691-23_691-20dup
ENST00000673000.1:n.1094-23_1094-20dup
ENST00000673531.1:c.736-23_736-20dup ENSP00000500163.1:n.736-23_736-20dup
ENST00000265838.8:c.1006-23_1006-20dup ENSP00000265838.4:n.1006-23_1006-20dup
ENST00000533597.1:n.59_62dup
NM_000019.3:c.1006-23_1006-20dup NP_000010.1:n.1006-23_1006-20dup
XM_006718834.2:c.736-23_736-20dup XP_006718897.1:n.736-23_736-20dup
XM_006718835.2:c.736-23_736-20dup XP_006718898.1:n.736-23_736-20dup
XM_006718835.3:c.736-23_736-20dup XP_006718898.1:n.736-23_736-20dup
XM_017017681.1:c.736-23_736-20dup XP_016873170.1:n.736-23_736-20dup
XM_017017682.2:c.628-23_628-20dup XP_016873171.1:n.628-23_628-20dup
XM_017017683.2:c.628-23_628-20dup XP_016873172.1:n.628-23_628-20dup
XM_024448511.1:c.736-23_736-20dup XP_024304279.1:n.736-23_736-20dup
XM_024448512.1:c.736-23_736-20dup XP_024304280.1:n.736-23_736-20dup
XM_024448513.1:c.736-23_736-20dup XP_024304281.1:n.736-23_736-20dup
XM_024448514.1:c.736-23_736-20dup XP_024304282.1:n.736-23_736-20dup
XM_024448515.1:c.736-23_736-20dup XP_024304283.1:n.736-23_736-20dup
NM_000019.4:c.1006-23_1006-20dup MANE Select NP_000010.1:n.1006-23_1006-20dup
NM_001386677.1:c.1006-23_1006-20dup NP_001373606.1:n.1006-23_1006-20dup
NM_001386678.1:c.691-23_691-20dup NP_001373607.1:n.691-23_691-20dup
NM_001386679.1:c.709-23_709-20dup NP_001373608.1:n.709-23_709-20dup
NM_001386681.1:c.736-23_736-20dup NP_001373610.1:n.736-23_736-20dup
NM_001386682.1:c.736-23_736-20dup NP_001373611.1:n.736-23_736-20dup
NM_001386685.1:c.736-23_736-20dup NP_001373614.1:n.736-23_736-20dup
NM_001386686.1:c.736-23_736-20dup NP_001373615.1:n.736-23_736-20dup
NM_001386687.1:c.736-23_736-20dup NP_001373616.1:n.736-23_736-20dup
NM_001386688.1:c.736-23_736-20dup NP_001373617.1:n.736-23_736-20dup
NM_001386689.1:c.736-23_736-20dup NP_001373618.1:n.736-23_736-20dup
NM_001386690.1:c.736-23_736-20dup NP_001373619.1:n.736-23_736-20dup
NM_001386691.1:c.736-23_736-20dup NP_001373620.1:n.736-23_736-20dup
NR_170162.1:n.981-23_981-20dup
NR_170163.1:n.1039-23_1039-20dup