Canonical Allele Identifier: CA10637477

Gene: ACAT1

Linked Data

• ClinVar Variation Id: 302197
• ClinVar RCV Id: RCV000305898
• dbSNP Id: rs886047594
• gnomAD v4: 11-108121621-G-C
• MyVariant Identifiers: chr11:g.107992348G>C (hg19) ; chr11:g.108121621G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108121621G>C , CM000673.2:g.108121621G>C	GRCh38
NC_000011.9:g.107992348G>C , CM000673.1:g.107992348G>C	GRCh37
NC_000011.8:g.107497558G>C	NCBI36
NG_009888.1:g.5091G>C
NG_009888.2:g.9917G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265838.9:c.15G>C MANE Select	ENSP00000265838.4:p.Ala5=
ENST00000672008.1:c.15G>C	ENSP00000500499.1:p.Ala5=
ENST00000672031.1:c.15G>C	ENSP00000500463.1:p.Ala5=
ENST00000672284.1:c.-199+4719G>C	ENSP00000500444.1:n.-199+4719G>C
ENST00000672354.1:c.15G>C	ENSP00000500490.1:p.Ala5=
ENST00000672367.1:c.15G>C	ENSP00000500209.1:p.Ala5=
ENST00000672580.1:c.15G>C	ENSP00000500366.1:p.Ala5=
ENST00000672907.1:c.15G>C	ENSP00000500928.1:p.Ala5=
ENST00000673531.1:c.-350G>C	ENSP00000500163.1:n.-350G>C
ENST00000265838.8:c.15G>C	ENSP00000265838.4:p.Ala5=
ENST00000299355.10:c.15G>C	ENSP00000299355.6:p.Ala5=
ENST00000524833.5:n.55G>C
ENST00000531813.5:c.15G>C	ENSP00000435965.1:p.Ala5=
NM_000019.3:c.15G>C	NP_000010.1:p.Ala5=
XM_017017681.1:c.-350G>C	XP_016873170.1:n.-350G>C
XM_017017682.2:c.-263G>C	XP_016873171.1:n.-263G>C
XM_017017683.2:c.-357G>C	XP_016873172.1:n.-357G>C
XM_024448512.1:c.-199+4719G>C	XP_024304280.1:n.-199+4719G>C
NM_000019.4:c.15G>C MANE Select	NP_000010.1:p.Ala5=
NM_001386677.1:c.15G>C	NP_001373606.1:p.Ala5=
NM_001386678.1:c.15G>C	NP_001373607.1:p.Ala5=
NM_001386679.1:c.-263G>C	NP_001373608.1:n.-263G>C
NM_001386681.1:c.-199+4719G>C	NP_001373610.1:n.-199+4719G>C
NM_001386682.1:c.-416+4719G>C	NP_001373611.1:n.-416+4719G>C
NM_001386685.1:c.-350G>C	NP_001373614.1:n.-350G>C
NM_001386686.1:c.-355G>C	NP_001373615.1:n.-355G>C
NR_170162.1:n.55G>C
NR_170163.1:n.55G>C