Canonical Allele Identifier: CA179709

Gene: ACAT1

Linked Data

• ClinVar Variation Id: 166648
• ClinVar RCV Id: RCV000152742 ; RCV000297661
• dbSNP Id: rs113348145
• ExAC: 11:107992319 C / G
• gnomAD v2: 11-107992319-C-G
• gnomAD v3: 11-108121592-C-G
• gnomAD v4: 11-108121592-C-G
• MyVariant Identifiers: chr11:g.107992319C>G (hg19) ; chr11:g.108121592C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108121592C>G , CM000673.2:g.108121592C>G	GRCh38
NC_000011.9:g.107992319C>G , CM000673.1:g.107992319C>G	GRCh37
NC_000011.8:g.107497529C>G	NCBI36
NG_009888.1:g.5062C>G
NG_009888.2:g.9888C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265838.9:c.-15C>G MANE Select	ENSP00000265838.4:n.-15C>G
ENST00000672031.1:c.-15C>G	ENSP00000500463.1:n.-15C>G
ENST00000672284.1:c.-199+4690C>G	ENSP00000500444.1:n.-199+4690C>G
ENST00000672354.1:c.-15C>G	ENSP00000500490.1:n.-15C>G
ENST00000672367.1:c.-15C>G	ENSP00000500209.1:n.-15C>G
ENST00000672580.1:c.-15C>G	ENSP00000500366.1:n.-15C>G
ENST00000672907.1:c.-15C>G	ENSP00000500928.1:n.-15C>G
ENST00000673531.1:c.-379C>G	ENSP00000500163.1:n.-379C>G
ENST00000265838.8:c.-15C>G	ENSP00000265838.4:n.-15C>G
ENST00000299355.10:c.-15C>G	ENSP00000299355.6:n.-15C>G
ENST00000524833.5:n.26C>G
ENST00000531813.5:c.-15C>G	ENSP00000435965.1:n.-15C>G
NM_000019.3:c.-15C>G	NP_000010.1:n.-15C>G
XM_017017681.1:c.-379C>G	XP_016873170.1:n.-379C>G
XM_017017682.2:c.-292C>G	XP_016873171.1:n.-292C>G
XM_017017683.2:c.-386C>G	XP_016873172.1:n.-386C>G
XM_024448512.1:c.-199+4690C>G	XP_024304280.1:n.-199+4690C>G
NM_000019.4:c.-15C>G MANE Select	NP_000010.1:n.-15C>G
NM_001386677.1:c.-15C>G	NP_001373606.1:n.-15C>G
NM_001386678.1:c.-15C>G	NP_001373607.1:n.-15C>G
NM_001386679.1:c.-292C>G	NP_001373608.1:n.-292C>G
NM_001386681.1:c.-199+4690C>G	NP_001373610.1:n.-199+4690C>G
NM_001386682.1:c.-416+4690C>G	NP_001373611.1:n.-416+4690C>G
NM_001386685.1:c.-379C>G	NP_001373614.1:n.-379C>G
NM_001386686.1:c.-384C>G	NP_001373615.1:n.-384C>G
NR_170162.1:n.26C>G
NR_170163.1:n.26C>G