Canonical Allele Identifier: CA476671986
Gene: ACAT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.108005903C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108135176C>T , CM000673.2:g.108135176C>T GRCh38
NC_000011.9:g.108005903C>T , CM000673.1:g.108005903C>T GRCh37
NC_000011.8:g.107511113C>T NCBI36
NG_009888.1:g.18646C>T
NG_009888.2:g.23472C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265838.9:c.369C>T MANE Select ENSP00000265838.4:p.Asn123=
ENST00000671707.1:n.464C>T
ENST00000672008.1:c.314+880C>T ENSP00000500499.1:n.314+880C>T
ENST00000672031.1:c.369C>T ENSP00000500463.1:p.Asn123=
ENST00000672284.1:c.99C>T ENSP00000500444.1:p.Asn33=
ENST00000672354.1:c.369C>T ENSP00000500490.1:p.Asn123=
ENST00000672367.1:c.73-3722C>T ENSP00000500209.1:n.73-3722C>T
ENST00000672580.1:c.369C>T ENSP00000500366.1:p.Asn123=
ENST00000672907.1:c.120+3222C>T ENSP00000500928.1:n.120+3222C>T
ENST00000673000.1:n.457C>T
ENST00000673531.1:c.99C>T ENSP00000500163.1:p.Asn33=
ENST00000265838.8:c.369C>T ENSP00000265838.4:p.Asn123=
ENST00000299355.10:c.369C>T ENSP00000299355.6:p.Asn123=
ENST00000527942.5:c.99C>T ENSP00000433568.1:p.Asn33=
ENST00000528370.1:c.175C>T
ENST00000531813.5:c.334+860C>T ENSP00000435965.1:n.334+860C>T
NM_000019.3:c.369C>T NP_000010.1:p.Asn123=
XM_006718834.2:c.99C>T XP_006718897.1:p.Asn33=
XM_006718835.2:c.99C>T XP_006718898.1:p.Asn33=
XM_006718835.3:c.99C>T XP_006718898.1:p.Asn33=
XM_017017681.1:c.99C>T XP_016873170.1:p.Asn33=
XM_017017682.2:c.57+860C>T XP_016873171.1:n.57+860C>T
XM_017017683.2:c.57+860C>T XP_016873172.1:n.57+860C>T
XM_024448511.1:c.99C>T XP_024304279.1:p.Asn33=
XM_024448512.1:c.99C>T XP_024304280.1:p.Asn33=
XM_024448513.1:c.99C>T XP_024304281.1:p.Asn33=
XM_024448514.1:c.99C>T XP_024304282.1:p.Asn33=
XM_024448515.1:c.99C>T XP_024304283.1:p.Asn33=
NM_000019.4:c.369C>T MANE Select NP_000010.1:p.Asn123=
NM_001386677.1:c.369C>T NP_001373606.1:p.Asn123=
NM_001386678.1:c.120+3222C>T NP_001373607.1:n.120+3222C>T
NM_001386679.1:c.72C>T NP_001373608.1:p.Asn24=
NM_001386681.1:c.99C>T NP_001373610.1:p.Asn33=
NM_001386682.1:c.99C>T NP_001373611.1:p.Asn33=
NM_001386685.1:c.99C>T NP_001373614.1:p.Asn33=
NM_001386686.1:c.99C>T NP_001373615.1:p.Asn33=
NM_001386687.1:c.99C>T NP_001373616.1:p.Asn33=
NM_001386688.1:c.99C>T NP_001373617.1:p.Asn33=
NM_001386689.1:c.99C>T NP_001373618.1:p.Asn33=
NM_001386690.1:c.99C>T NP_001373619.1:p.Asn33=
NM_001386691.1:c.99C>T NP_001373620.1:p.Asn33=
NR_170162.1:n.409C>T
NR_170163.1:n.468+860C>T