Canonical Allele Identifier: CA382508771

Gene: ACAT1

Linked Data

• dbSNP Id: rs2077738606
• gnomAD v4: 11-108147310-T-G
• MyVariant Identifiers: chr11:g.108018037T>G (hg19) ; chr11:g.108147310T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108147310T>G , CM000673.2:g.108147310T>G	GRCh38
NC_000011.9:g.108018037T>G , CM000673.1:g.108018037T>G	GRCh37
NC_000011.8:g.107523247T>G	NCBI36
NG_009888.1:g.30780T>G
NG_009888.2:g.35606T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265838.9:c.1204T>G MANE Select	ENSP00000265838.4:p.Leu402Val
ENST00000671707.1:n.1299T>G
ENST00000672031.1:c.*191T>G	ENSP00000500463.1:n.*191T>G
ENST00000672284.1:c.934T>G	ENSP00000500444.1:p.Leu312Val
ENST00000672354.1:c.1225T>G	ENSP00000500490.1:p.Leu409Val
ENST00000672367.1:c.841T>G	ENSP00000500209.1:p.Leu281Val
ENST00000672580.1:c.*459T>G	ENSP00000500366.1:n.*459T>G
ENST00000672907.1:c.889T>G	ENSP00000500928.1:p.Leu297Val
ENST00000673000.1:n.1292T>G
ENST00000673531.1:c.934T>G	ENSP00000500163.1:p.Leu312Val
ENST00000265838.8:c.1204T>G	ENSP00000265838.4:p.Leu402Val
ENST00000533597.1:n.280T>G
NM_000019.3:c.1204T>G	NP_000010.1:p.Leu402Val
XM_006718834.2:c.934T>G	XP_006718897.1:p.Leu312Val
XM_006718835.2:c.934T>G	XP_006718898.1:p.Leu312Val
XM_006718835.3:c.934T>G	XP_006718898.1:p.Leu312Val
XM_017017681.1:c.934T>G	XP_016873170.1:p.Leu312Val
XM_017017682.2:c.826T>G	XP_016873171.1:p.Leu276Val
XM_017017683.2:c.826T>G	XP_016873172.1:p.Leu276Val
XM_024448511.1:c.934T>G	XP_024304279.1:p.Leu312Val
XM_024448512.1:c.934T>G	XP_024304280.1:p.Leu312Val
XM_024448513.1:c.934T>G	XP_024304281.1:p.Leu312Val
XM_024448514.1:c.934T>G	XP_024304282.1:p.Leu312Val
XM_024448515.1:c.934T>G	XP_024304283.1:p.Leu312Val
NM_000019.4:c.1204T>G MANE Select	NP_000010.1:p.Leu402Val
NM_001386677.1:c.1225T>G	NP_001373606.1:p.Leu409Val
NM_001386678.1:c.889T>G	NP_001373607.1:p.Leu297Val
NM_001386679.1:c.907T>G	NP_001373608.1:p.Leu303Val
NM_001386681.1:c.934T>G	NP_001373610.1:p.Leu312Val
NM_001386682.1:c.934T>G	NP_001373611.1:p.Leu312Val
NM_001386685.1:c.934T>G	NP_001373614.1:p.Leu312Val
NM_001386686.1:c.934T>G	NP_001373615.1:p.Leu312Val
NM_001386687.1:c.934T>G	NP_001373616.1:p.Leu312Val
NM_001386688.1:c.934T>G	NP_001373617.1:p.Leu312Val
NM_001386689.1:c.934T>G	NP_001373618.1:p.Leu312Val
NM_001386690.1:c.934T>G	NP_001373619.1:p.Leu312Val
NM_001386691.1:c.934T>G	NP_001373620.1:p.Leu312Val
NR_170162.1:n.1179T>G
NR_170163.1:n.1237T>G