Canonical Allele Identifier: CA476665502
Gene: ACAT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.108016964T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108146237T>A , CM000673.2:g.108146237T>A GRCh38
NC_000011.9:g.108016964T>A , CM000673.1:g.108016964T>A GRCh37
NC_000011.8:g.107522174T>A NCBI36
NG_009888.1:g.29707T>A
NG_009888.2:g.34533T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000265838.9:c.1041T>A MANE Select ENSP00000265838.4:p.Ile347=
ENST00000671707.1:n.1136T>A
ENST00000672031.1:c.*28T>A ENSP00000500463.1:n.*28T>A
ENST00000672284.1:c.771T>A ENSP00000500444.1:p.Ile257=
ENST00000672354.1:c.1041T>A ENSP00000500490.1:p.Ile347=
ENST00000672367.1:c.678T>A ENSP00000500209.1:p.Ile226=
ENST00000672580.1:c.*296T>A ENSP00000500366.1:n.*296T>A
ENST00000672907.1:c.726T>A ENSP00000500928.1:p.Ile242=
ENST00000673000.1:n.1129T>A
ENST00000673531.1:c.771T>A ENSP00000500163.1:p.Ile257=
ENST00000265838.8:c.1041T>A ENSP00000265838.4:p.Ile347=
ENST00000533597.1:n.117T>A
NM_000019.3:c.1041T>A NP_000010.1:p.Ile347=
XM_006718834.2:c.771T>A XP_006718897.1:p.Ile257=
XM_006718835.2:c.771T>A XP_006718898.1:p.Ile257=
XM_006718835.3:c.771T>A XP_006718898.1:p.Ile257=
XM_017017681.1:c.771T>A XP_016873170.1:p.Ile257=
XM_017017682.2:c.663T>A XP_016873171.1:p.Ile221=
XM_017017683.2:c.663T>A XP_016873172.1:p.Ile221=
XM_024448511.1:c.771T>A XP_024304279.1:p.Ile257=
XM_024448512.1:c.771T>A XP_024304280.1:p.Ile257=
XM_024448513.1:c.771T>A XP_024304281.1:p.Ile257=
XM_024448514.1:c.771T>A XP_024304282.1:p.Ile257=
XM_024448515.1:c.771T>A XP_024304283.1:p.Ile257=
NM_000019.4:c.1041T>A MANE Select NP_000010.1:p.Ile347=
NM_001386677.1:c.1041T>A NP_001373606.1:p.Ile347=
NM_001386678.1:c.726T>A NP_001373607.1:p.Ile242=
NM_001386679.1:c.744T>A NP_001373608.1:p.Ile248=
NM_001386681.1:c.771T>A NP_001373610.1:p.Ile257=
NM_001386682.1:c.771T>A NP_001373611.1:p.Ile257=
NM_001386685.1:c.771T>A NP_001373614.1:p.Ile257=
NM_001386686.1:c.771T>A NP_001373615.1:p.Ile257=
NM_001386687.1:c.771T>A NP_001373616.1:p.Ile257=
NM_001386688.1:c.771T>A NP_001373617.1:p.Ile257=
NM_001386689.1:c.771T>A NP_001373618.1:p.Ile257=
NM_001386690.1:c.771T>A NP_001373619.1:p.Ile257=
NM_001386691.1:c.771T>A NP_001373620.1:p.Ile257=
NR_170162.1:n.1016T>A
NR_170163.1:n.1074T>A