Canonical Allele Identifier: CA228358332
Gene: ACAT1 HGNC NCBI

Linked Data

dbSNP Id: rs756038636

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108146143_108146146dup , CM000673.2:g.108146143_108146146dup GRCh38
NC_000011.9:g.108016870_108016873dup , CM000673.1:g.108016870_108016873dup GRCh37
NC_000011.8:g.107522080_107522083dup NCBI36
NG_009888.1:g.29613_29616dup
NG_009888.2:g.34439_34442dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000265838.9:c.1006-59_1006-56dup MANE Select ENSP00000265838.4:n.1006-59_1006-56dup
ENST00000671707.1:n.1101-59_1101-56dup
ENST00000672031.1:c.941-59_941-56dup ENSP00000500463.1:n.941-59_941-56dup
ENST00000672284.1:c.736-59_736-56dup ENSP00000500444.1:n.736-59_736-56dup
ENST00000672354.1:c.1006-59_1006-56dup ENSP00000500490.1:n.1006-59_1006-56dup
ENST00000672367.1:c.643-59_643-56dup ENSP00000500209.1:n.643-59_643-56dup
ENST00000672580.1:c.*261-59_*261-56dup ENSP00000500366.1:n.*261-59_*261-56dup
ENST00000672907.1:c.691-59_691-56dup ENSP00000500928.1:n.691-59_691-56dup
ENST00000673000.1:n.1094-59_1094-56dup
ENST00000673531.1:c.736-59_736-56dup ENSP00000500163.1:n.736-59_736-56dup
ENST00000265838.8:c.1006-59_1006-56dup ENSP00000265838.4:n.1006-59_1006-56dup
ENST00000533597.1:n.23_26dup
NM_000019.3:c.1006-59_1006-56dup NP_000010.1:n.1006-59_1006-56dup
XM_006718834.2:c.736-59_736-56dup XP_006718897.1:n.736-59_736-56dup
XM_006718835.2:c.736-59_736-56dup XP_006718898.1:n.736-59_736-56dup
XM_006718835.3:c.736-59_736-56dup XP_006718898.1:n.736-59_736-56dup
XM_017017681.1:c.736-59_736-56dup XP_016873170.1:n.736-59_736-56dup
XM_017017682.2:c.628-59_628-56dup XP_016873171.1:n.628-59_628-56dup
XM_017017683.2:c.628-59_628-56dup XP_016873172.1:n.628-59_628-56dup
XM_024448511.1:c.736-59_736-56dup XP_024304279.1:n.736-59_736-56dup
XM_024448512.1:c.736-59_736-56dup XP_024304280.1:n.736-59_736-56dup
XM_024448513.1:c.736-59_736-56dup XP_024304281.1:n.736-59_736-56dup
XM_024448514.1:c.736-59_736-56dup XP_024304282.1:n.736-59_736-56dup
XM_024448515.1:c.736-59_736-56dup XP_024304283.1:n.736-59_736-56dup
NM_000019.4:c.1006-59_1006-56dup MANE Select NP_000010.1:n.1006-59_1006-56dup
NM_001386677.1:c.1006-59_1006-56dup NP_001373606.1:n.1006-59_1006-56dup
NM_001386678.1:c.691-59_691-56dup NP_001373607.1:n.691-59_691-56dup
NM_001386679.1:c.709-59_709-56dup NP_001373608.1:n.709-59_709-56dup
NM_001386681.1:c.736-59_736-56dup NP_001373610.1:n.736-59_736-56dup
NM_001386682.1:c.736-59_736-56dup NP_001373611.1:n.736-59_736-56dup
NM_001386685.1:c.736-59_736-56dup NP_001373614.1:n.736-59_736-56dup
NM_001386686.1:c.736-59_736-56dup NP_001373615.1:n.736-59_736-56dup
NM_001386687.1:c.736-59_736-56dup NP_001373616.1:n.736-59_736-56dup
NM_001386688.1:c.736-59_736-56dup NP_001373617.1:n.736-59_736-56dup
NM_001386689.1:c.736-59_736-56dup NP_001373618.1:n.736-59_736-56dup
NM_001386690.1:c.736-59_736-56dup NP_001373619.1:n.736-59_736-56dup
NM_001386691.1:c.736-59_736-56dup NP_001373620.1:n.736-59_736-56dup
NR_170162.1:n.981-59_981-56dup
NR_170163.1:n.1039-59_1039-56dup