Canonical Allele Identifier: CA228399204

Gene: ACAT1

Linked Data

• ClinVar Variation Id: 1439947
• ClinVar RCV Id: RCV001965435
• dbSNP Id: rs969770311
• gnomAD v2: 11-108004997-A-G
• gnomAD v3: 11-108134270-A-G
• gnomAD v4: 11-108134270-A-G
• MyVariant Identifiers: chr11:g.108004997A>G (hg19) ; chr11:g.108134270A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108134270A>G , CM000673.2:g.108134270A>G	GRCh38
NC_000011.9:g.108004997A>G , CM000673.1:g.108004997A>G	GRCh37
NC_000011.8:g.107510207A>G	NCBI36
NG_009888.1:g.17740A>G
NG_009888.2:g.22566A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265838.9:c.288A>G MANE Select	ENSP00000265838.4:p.Gln96=
ENST00000671707.1:n.383A>G
ENST00000672008.1:c.288A>G	ENSP00000500499.1:p.Gln96=
ENST00000672031.1:c.288A>G	ENSP00000500463.1:p.Gln96=
ENST00000672284.1:c.18A>G	ENSP00000500444.1:p.Gln6=
ENST00000672354.1:c.288A>G	ENSP00000500490.1:p.Gln96=
ENST00000672367.1:c.73-4628A>G	ENSP00000500209.1:n.73-4628A>G
ENST00000672580.1:c.288A>G	ENSP00000500366.1:p.Gln96=
ENST00000672907.1:c.120+2316A>G	ENSP00000500928.1:n.120+2316A>G
ENST00000673000.1:n.376A>G
ENST00000673531.1:c.18A>G	ENSP00000500163.1:p.Gln6=
ENST00000265838.8:c.288A>G	ENSP00000265838.4:p.Gln96=
ENST00000299355.10:c.288A>G	ENSP00000299355.6:p.Gln96=
ENST00000524833.5:n.328A>G
ENST00000527942.5:c.18A>G	ENSP00000433568.1:p.Gln6=
ENST00000528370.1:c.94A>G
ENST00000531813.5:c.288A>G	ENSP00000435965.1:p.Gln96=
NM_000019.3:c.288A>G	NP_000010.1:p.Gln96=
XM_006718834.2:c.18A>G	XP_006718897.1:p.Gln6=
XM_006718835.2:c.18A>G	XP_006718898.1:p.Gln6=
XM_006718835.3:c.18A>G	XP_006718898.1:p.Gln6=
XM_017017681.1:c.18A>G	XP_016873170.1:p.Gln6=
XM_017017682.2:c.11A>G	XP_016873171.1:p.Lys4Arg
XM_017017683.2:c.11A>G	XP_016873172.1:p.Lys4Arg
XM_024448511.1:c.18A>G	XP_024304279.1:p.Gln6=
XM_024448512.1:c.18A>G	XP_024304280.1:p.Gln6=
XM_024448513.1:c.18A>G	XP_024304281.1:p.Gln6=
XM_024448514.1:c.18A>G	XP_024304282.1:p.Gln6=
XM_024448515.1:c.18A>G	XP_024304283.1:p.Gln6=
NM_000019.4:c.288A>G MANE Select	NP_000010.1:p.Gln96=
NM_001386677.1:c.288A>G	NP_001373606.1:p.Gln96=
NM_001386678.1:c.120+2316A>G	NP_001373607.1:n.120+2316A>G
NM_001386679.1:c.11A>G	NP_001373608.1:p.Lys4Arg
NM_001386681.1:c.18A>G	NP_001373610.1:p.Gln6=
NM_001386682.1:c.18A>G	NP_001373611.1:p.Gln6=
NM_001386685.1:c.18A>G	NP_001373614.1:p.Gln6=
NM_001386686.1:c.18A>G	NP_001373615.1:p.Gln6=
NM_001386687.1:c.18A>G	NP_001373616.1:p.Gln6=
NM_001386688.1:c.18A>G	NP_001373617.1:p.Gln6=
NM_001386689.1:c.18A>G	NP_001373618.1:p.Gln6=
NM_001386690.1:c.18A>G	NP_001373619.1:p.Gln6=
NM_001386691.1:c.18A>G	NP_001373620.1:p.Gln6=
NR_170162.1:n.328A>G
NR_170163.1:n.422A>G