Canonical Allele Identifier: CA252463

Gene: ACAT1

Linked Data

• ClinVar Variation Id: 2838
• ClinVar RCV Id: RCV000002972
• dbSNP Id: rs120074142
• gnomAD v4: 11-108121608-T-A
• MyVariant Identifiers: chr11:g.107992335T>A (hg19) ; chr11:g.108121608T>A (hg38)
• PubMed: PMID:4690360 ; PMID:8103405

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108121608T>A , CM000673.2:g.108121608T>A	GRCh38
NC_000011.9:g.107992335T>A , CM000673.1:g.107992335T>A	GRCh37
NC_000011.8:g.107497545T>A	NCBI36
NG_009888.1:g.5078T>A
NG_009888.2:g.9904T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265838.9:c.2T>A MANE Select	ENSP00000265838.4:p.Met1Lys
ENST00000672008.1:c.2T>A	ENSP00000500499.1:p.Met1Lys
ENST00000672031.1:c.2T>A	ENSP00000500463.1:p.Met1Lys
ENST00000672284.1:c.-199+4706T>A	ENSP00000500444.1:n.-199+4706T>A
ENST00000672354.1:c.2T>A	ENSP00000500490.1:p.Met1Lys
ENST00000672367.1:c.2T>A	ENSP00000500209.1:p.Met1Lys
ENST00000672580.1:c.2T>A	ENSP00000500366.1:p.Met1Lys
ENST00000672907.1:c.2T>A	ENSP00000500928.1:p.Met1Lys
ENST00000673531.1:c.-363T>A	ENSP00000500163.1:n.-363T>A
ENST00000265838.8:c.2T>A	ENSP00000265838.4:p.Met1Lys
ENST00000299355.10:c.2T>A	ENSP00000299355.6:p.Met1Lys
ENST00000524833.5:n.42T>A
ENST00000531813.5:c.2T>A	ENSP00000435965.1:p.Met1Lys
NM_000019.3:c.2T>A	NP_000010.1:p.Met1Lys
XM_017017681.1:c.-363T>A	XP_016873170.1:n.-363T>A
XM_017017682.2:c.-276T>A	XP_016873171.1:n.-276T>A
XM_017017683.2:c.-370T>A	XP_016873172.1:n.-370T>A
XM_024448512.1:c.-199+4706T>A	XP_024304280.1:n.-199+4706T>A
NM_000019.4:c.2T>A MANE Select	NP_000010.1:p.Met1Lys
NM_001386677.1:c.2T>A	NP_001373606.1:p.Met1Lys
NM_001386678.1:c.2T>A	NP_001373607.1:p.Met1Lys
NM_001386679.1:c.-276T>A	NP_001373608.1:n.-276T>A
NM_001386681.1:c.-199+4706T>A	NP_001373610.1:n.-199+4706T>A
NM_001386682.1:c.-416+4706T>A	NP_001373611.1:n.-416+4706T>A
NM_001386685.1:c.-363T>A	NP_001373614.1:n.-363T>A
NM_001386686.1:c.-368T>A	NP_001373615.1:n.-368T>A
NR_170162.1:n.42T>A
NR_170163.1:n.42T>A