Canonical Allele Identifier: CA476663964
Gene: ACAT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.108012420A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108141693A>G , CM000673.2:g.108141693A>G GRCh38
NC_000011.9:g.108012420A>G , CM000673.1:g.108012420A>G GRCh37
NC_000011.8:g.107517630A>G NCBI36
NG_009888.1:g.25163A>G
NG_009888.2:g.29989A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000265838.9:c.819A>G MANE Select ENSP00000265838.4:p.Lys273=
ENST00000671707.1:n.914A>G
ENST00000672031.1:c.819A>G ENSP00000500463.1:p.Lys273=
ENST00000672284.1:c.549A>G ENSP00000500444.1:p.Lys183=
ENST00000672354.1:c.819A>G ENSP00000500490.1:p.Lys273=
ENST00000672367.1:c.456A>G ENSP00000500209.1:p.Lys152=
ENST00000672580.1:c.*74A>G ENSP00000500366.1:n.*74A>G
ENST00000672907.1:c.504A>G ENSP00000500928.1:p.Lys168=
ENST00000673000.1:n.907A>G
ENST00000673531.1:c.549A>G ENSP00000500163.1:p.Lys183=
ENST00000265838.8:c.819A>G ENSP00000265838.4:p.Lys273=
ENST00000531813.5:c.*292A>G ENSP00000435965.1:n.*292A>G
ENST00000532792.5:n.314A>G
ENST00000533610.1:n.280A>G
NM_000019.3:c.819A>G NP_000010.1:p.Lys273=
XM_006718834.2:c.549A>G XP_006718897.1:p.Lys183=
XM_006718835.2:c.549A>G XP_006718898.1:p.Lys183=
XM_006718835.3:c.549A>G XP_006718898.1:p.Lys183=
XM_017017681.1:c.549A>G XP_016873170.1:p.Lys183=
XM_017017682.2:c.441A>G XP_016873171.1:p.Lys147=
XM_017017683.2:c.441A>G XP_016873172.1:p.Lys147=
XM_024448511.1:c.549A>G XP_024304279.1:p.Lys183=
XM_024448512.1:c.549A>G XP_024304280.1:p.Lys183=
XM_024448513.1:c.549A>G XP_024304281.1:p.Lys183=
XM_024448514.1:c.549A>G XP_024304282.1:p.Lys183=
XM_024448515.1:c.549A>G XP_024304283.1:p.Lys183=
NM_000019.4:c.819A>G MANE Select NP_000010.1:p.Lys273=
NM_001386677.1:c.819A>G NP_001373606.1:p.Lys273=
NM_001386678.1:c.504A>G NP_001373607.1:p.Lys168=
NM_001386679.1:c.522A>G NP_001373608.1:p.Lys174=
NM_001386681.1:c.549A>G NP_001373610.1:p.Lys183=
NM_001386682.1:c.549A>G NP_001373611.1:p.Lys183=
NM_001386685.1:c.549A>G NP_001373614.1:p.Lys183=
NM_001386686.1:c.549A>G NP_001373615.1:p.Lys183=
NM_001386687.1:c.549A>G NP_001373616.1:p.Lys183=
NM_001386688.1:c.549A>G NP_001373617.1:p.Lys183=
NM_001386689.1:c.549A>G NP_001373618.1:p.Lys183=
NM_001386690.1:c.549A>G NP_001373619.1:p.Lys183=
NM_001386691.1:c.549A>G NP_001373620.1:p.Lys183=
NR_170162.1:n.859A>G
NR_170163.1:n.852A>G