Canonical Allele Identifier: CA1998721103
Gene: ACAT1 HGNC NCBI

Linked Data

dbSNP Id: rs2077745134

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108147509_108147513dup , CM000673.2:g.108147509_108147513dup GRCh38
NC_000011.9:g.108018236_108018240dup , CM000673.1:g.108018236_108018240dup GRCh37
NC_000011.8:g.107523446_107523450dup NCBI36
NG_009888.1:g.30979_30983dup
NG_009888.2:g.35805_35809dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000265838.9:c.*119_*123dup MANE Select ENSP00000265838.4:n.*119_*123dup
ENST00000672284.1:c.*119_*123dup ENSP00000500444.1:n.*119_*123dup
ENST00000672367.1:c.*119_*123dup ENSP00000500209.1:n.*119_*123dup
ENST00000672580.1:c.*658_*662dup ENSP00000500366.1:n.*658_*662dup
ENST00000672907.1:c.*119_*123dup ENSP00000500928.1:n.*119_*123dup
ENST00000265838.8:c.*119_*123dup ENSP00000265838.4:n.*119_*123dup
ENST00000533597.1:n.479_483dup
NM_000019.3:c.*119_*123dup NP_000010.1:n.*119_*123dup
XM_006718834.2:c.*119_*123dup XP_006718897.1:n.*119_*123dup
XM_006718835.2:c.*119_*123dup XP_006718898.1:n.*119_*123dup
XM_006718835.3:c.*119_*123dup XP_006718898.1:n.*119_*123dup
XM_017017681.1:c.*119_*123dup XP_016873170.1:n.*119_*123dup
XM_017017682.2:c.*119_*123dup XP_016873171.1:n.*119_*123dup
XM_017017683.2:c.*119_*123dup XP_016873172.1:n.*119_*123dup
XM_024448511.1:c.*119_*123dup XP_024304279.1:n.*119_*123dup
XM_024448512.1:c.*119_*123dup XP_024304280.1:n.*119_*123dup
XM_024448513.1:c.*119_*123dup XP_024304281.1:n.*119_*123dup
XM_024448514.1:c.*119_*123dup XP_024304282.1:n.*119_*123dup
XM_024448515.1:c.*119_*123dup XP_024304283.1:n.*119_*123dup
NM_000019.4:c.*119_*123dup MANE Select NP_000010.1:n.*119_*123dup
NM_001386677.1:c.*119_*123dup NP_001373606.1:n.*119_*123dup
NM_001386678.1:c.*119_*123dup NP_001373607.1:n.*119_*123dup
NM_001386679.1:c.*119_*123dup NP_001373608.1:n.*119_*123dup
NM_001386681.1:c.*119_*123dup NP_001373610.1:n.*119_*123dup
NM_001386682.1:c.*119_*123dup NP_001373611.1:n.*119_*123dup
NM_001386685.1:c.*119_*123dup NP_001373614.1:n.*119_*123dup
NM_001386686.1:c.*119_*123dup NP_001373615.1:n.*119_*123dup
NM_001386687.1:c.*119_*123dup NP_001373616.1:n.*119_*123dup
NM_001386688.1:c.*119_*123dup NP_001373617.1:n.*119_*123dup
NM_001386689.1:c.*119_*123dup NP_001373618.1:n.*119_*123dup
NM_001386690.1:c.*119_*123dup NP_001373619.1:n.*119_*123dup
NM_001386691.1:c.*119_*123dup NP_001373620.1:n.*119_*123dup
NR_170162.1:n.1378_1382dup
NR_170163.1:n.1436_1440dup