Canonical Allele Identifier: CA476663914
Gene: ACAT1 HGNC NCBI

Linked Data

dbSNP Id: rs2134768532
MyVariant Identifiers: chr11:g.108012336A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108141609A>G , CM000673.2:g.108141609A>G GRCh38
NC_000011.9:g.108012336A>G , CM000673.1:g.108012336A>G GRCh37
NC_000011.8:g.107517546A>G NCBI36
NG_009888.1:g.25079A>G
NG_009888.2:g.29905A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000265838.9:c.735A>G MANE Select ENSP00000265838.4:p.Gln245=
ENST00000671707.1:n.830A>G
ENST00000672008.1:c.*293A>G ENSP00000500499.1:n.*293A>G
ENST00000672031.1:c.735A>G ENSP00000500463.1:p.Gln245=
ENST00000672284.1:c.465A>G ENSP00000500444.1:p.Gln155=
ENST00000672354.1:c.735A>G ENSP00000500490.1:p.Gln245=
ENST00000672367.1:c.372A>G ENSP00000500209.1:p.Gln124=
ENST00000672580.1:c.584A>G ENSP00000500366.1:p.Asn195Ser
ENST00000672907.1:c.420A>G ENSP00000500928.1:p.Gln140=
ENST00000673000.1:n.823A>G
ENST00000673531.1:c.465A>G ENSP00000500163.1:p.Gln155=
ENST00000265838.8:c.735A>G ENSP00000265838.4:p.Gln245=
ENST00000531813.5:c.*208A>G ENSP00000435965.1:n.*208A>G
ENST00000532792.5:n.230A>G
ENST00000533610.1:n.196A>G
NM_000019.3:c.735A>G NP_000010.1:p.Gln245=
XM_006718834.2:c.465A>G XP_006718897.1:p.Gln155=
XM_006718835.2:c.465A>G XP_006718898.1:p.Gln155=
XM_006718835.3:c.465A>G XP_006718898.1:p.Gln155=
XM_017017681.1:c.465A>G XP_016873170.1:p.Gln155=
XM_017017682.2:c.357A>G XP_016873171.1:p.Gln119=
XM_017017683.2:c.357A>G XP_016873172.1:p.Gln119=
XM_024448511.1:c.465A>G XP_024304279.1:p.Gln155=
XM_024448512.1:c.465A>G XP_024304280.1:p.Gln155=
XM_024448513.1:c.465A>G XP_024304281.1:p.Gln155=
XM_024448514.1:c.465A>G XP_024304282.1:p.Gln155=
XM_024448515.1:c.465A>G XP_024304283.1:p.Gln155=
NM_000019.4:c.735A>G MANE Select NP_000010.1:p.Gln245=
NM_001386677.1:c.735A>G NP_001373606.1:p.Gln245=
NM_001386678.1:c.420A>G NP_001373607.1:p.Gln140=
NM_001386679.1:c.438A>G NP_001373608.1:p.Gln146=
NM_001386681.1:c.465A>G NP_001373610.1:p.Gln155=
NM_001386682.1:c.465A>G NP_001373611.1:p.Gln155=
NM_001386685.1:c.465A>G NP_001373614.1:p.Gln155=
NM_001386686.1:c.465A>G NP_001373615.1:p.Gln155=
NM_001386687.1:c.465A>G NP_001373616.1:p.Gln155=
NM_001386688.1:c.465A>G NP_001373617.1:p.Gln155=
NM_001386689.1:c.465A>G NP_001373618.1:p.Gln155=
NM_001386690.1:c.465A>G NP_001373619.1:p.Gln155=
NM_001386691.1:c.465A>G NP_001373620.1:p.Gln155=
NR_170162.1:n.775A>G
NR_170163.1:n.768A>G