Canonical Allele Identifier: CA476666078

Gene: ACAT1

Linked Data

• ClinVar Variation Id: 1121261
• ClinVar RCV Id: RCV001451466
• dbSNP Id: rs1430318016
• gnomAD v3: 11-108147387-G-A
• gnomAD v4: 11-108147387-G-A
• MyVariant Identifiers: chr11:g.108018114G>A (hg19) ; chr11:g.108147387G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108147387G>A , CM000673.2:g.108147387G>A	GRCh38
NC_000011.9:g.108018114G>A , CM000673.1:g.108018114G>A	GRCh37
NC_000011.8:g.107523324G>A	NCBI36
NG_009888.1:g.30857G>A
NG_009888.2:g.35683G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265838.9:c.1281G>A MANE Select	ENSP00000265838.4:p.Leu427=
ENST00000671707.1:n.1376G>A
ENST00000672031.1:c.*268G>A	ENSP00000500463.1:n.*268G>A
ENST00000672284.1:c.1011G>A	ENSP00000500444.1:p.Leu337=
ENST00000672354.1:c.1302G>A	ENSP00000500490.1:p.Leu434=
ENST00000672367.1:c.918G>A	ENSP00000500209.1:p.Leu306=
ENST00000672580.1:c.*536G>A	ENSP00000500366.1:n.*536G>A
ENST00000672907.1:c.966G>A	ENSP00000500928.1:p.Leu322=
ENST00000673000.1:n.1369G>A
ENST00000673531.1:c.1011G>A	ENSP00000500163.1:p.Leu337=
ENST00000265838.8:c.1281G>A	ENSP00000265838.4:p.Leu427=
ENST00000533597.1:n.357G>A
NM_000019.3:c.1281G>A	NP_000010.1:p.Leu427=
XM_006718834.2:c.1011G>A	XP_006718897.1:p.Leu337=
XM_006718835.2:c.1011G>A	XP_006718898.1:p.Leu337=
XM_006718835.3:c.1011G>A	XP_006718898.1:p.Leu337=
XM_017017681.1:c.1011G>A	XP_016873170.1:p.Leu337=
XM_017017682.2:c.903G>A	XP_016873171.1:p.Leu301=
XM_017017683.2:c.903G>A	XP_016873172.1:p.Leu301=
XM_024448511.1:c.1011G>A	XP_024304279.1:p.Leu337=
XM_024448512.1:c.1011G>A	XP_024304280.1:p.Leu337=
XM_024448513.1:c.1011G>A	XP_024304281.1:p.Leu337=
XM_024448514.1:c.1011G>A	XP_024304282.1:p.Leu337=
XM_024448515.1:c.1011G>A	XP_024304283.1:p.Leu337=
NM_000019.4:c.1281G>A MANE Select	NP_000010.1:p.Leu427=
NM_001386677.1:c.1302G>A	NP_001373606.1:p.Leu434=
NM_001386678.1:c.966G>A	NP_001373607.1:p.Leu322=
NM_001386679.1:c.984G>A	NP_001373608.1:p.Leu328=
NM_001386681.1:c.1011G>A	NP_001373610.1:p.Leu337=
NM_001386682.1:c.1011G>A	NP_001373611.1:p.Leu337=
NM_001386685.1:c.1011G>A	NP_001373614.1:p.Leu337=
NM_001386686.1:c.1011G>A	NP_001373615.1:p.Leu337=
NM_001386687.1:c.1011G>A	NP_001373616.1:p.Leu337=
NM_001386688.1:c.1011G>A	NP_001373617.1:p.Leu337=
NM_001386689.1:c.1011G>A	NP_001373618.1:p.Leu337=
NM_001386690.1:c.1011G>A	NP_001373619.1:p.Leu337=
NM_001386691.1:c.1011G>A	NP_001373620.1:p.Leu337=
NR_170162.1:n.1256G>A
NR_170163.1:n.1314G>A