Canonical Allele Identifier: CA382508496
Gene: ACAT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108146275T>A , CM000673.2:g.108146275T>A GRCh38
NC_000011.9:g.108017002T>A , CM000673.1:g.108017002T>A GRCh37
NC_000011.8:g.107522212T>A NCBI36
NG_009888.1:g.29745T>A
NG_009888.2:g.34571T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265838.9:c.1079T>A MANE Select ENSP00000265838.4:p.Val360Glu
ENST00000671707.1:n.1174T>A
ENST00000672031.1:c.*66T>A ENSP00000500463.1:n.*66T>A
ENST00000672284.1:c.809T>A ENSP00000500444.1:p.Val270Glu
ENST00000672354.1:c.1079T>A ENSP00000500490.1:p.Val360Glu
ENST00000672367.1:c.716T>A ENSP00000500209.1:p.Val239Glu
ENST00000672580.1:c.*334T>A ENSP00000500366.1:n.*334T>A
ENST00000672907.1:c.764T>A ENSP00000500928.1:p.Val255Glu
ENST00000673000.1:n.1167T>A
ENST00000673531.1:c.809T>A ENSP00000500163.1:p.Val270Glu
ENST00000265838.8:c.1079T>A ENSP00000265838.4:p.Val360Glu
ENST00000533597.1:n.155T>A
NM_000019.3:c.1079T>A NP_000010.1:p.Val360Glu
XM_006718834.2:c.809T>A XP_006718897.1:p.Val270Glu
XM_006718835.2:c.809T>A XP_006718898.1:p.Val270Glu
XM_006718835.3:c.809T>A XP_006718898.1:p.Val270Glu
XM_017017681.1:c.809T>A XP_016873170.1:p.Val270Glu
XM_017017682.2:c.701T>A XP_016873171.1:p.Val234Glu
XM_017017683.2:c.701T>A XP_016873172.1:p.Val234Glu
XM_024448511.1:c.809T>A XP_024304279.1:p.Val270Glu
XM_024448512.1:c.809T>A XP_024304280.1:p.Val270Glu
XM_024448513.1:c.809T>A XP_024304281.1:p.Val270Glu
XM_024448514.1:c.809T>A XP_024304282.1:p.Val270Glu
XM_024448515.1:c.809T>A XP_024304283.1:p.Val270Glu
NM_000019.4:c.1079T>A MANE Select NP_000010.1:p.Val360Glu
NM_001386677.1:c.1079T>A NP_001373606.1:p.Val360Glu
NM_001386678.1:c.764T>A NP_001373607.1:p.Val255Glu
NM_001386679.1:c.782T>A NP_001373608.1:p.Val261Glu
NM_001386681.1:c.809T>A NP_001373610.1:p.Val270Glu
NM_001386682.1:c.809T>A NP_001373611.1:p.Val270Glu
NM_001386685.1:c.809T>A NP_001373614.1:p.Val270Glu
NM_001386686.1:c.809T>A NP_001373615.1:p.Val270Glu
NM_001386687.1:c.809T>A NP_001373616.1:p.Val270Glu
NM_001386688.1:c.809T>A NP_001373617.1:p.Val270Glu
NM_001386689.1:c.809T>A NP_001373618.1:p.Val270Glu
NM_001386690.1:c.809T>A NP_001373619.1:p.Val270Glu
NM_001386691.1:c.809T>A NP_001373620.1:p.Val270Glu
NR_170162.1:n.1054T>A
NR_170163.1:n.1112T>A