Canonical Allele Identifier: CA228400071

Gene: ACAT1

Linked Data

• ClinVar Variation Id: 1615925
• ClinVar RCV Id: RCV002081818
• dbSNP Id: rs941750006
• gnomAD v2: 11-108005876-T-A
• gnomAD v3: 11-108135149-T-A
• gnomAD v4: 11-108135149-T-A
• MyVariant Identifiers: chr11:g.108005876T>A (hg19) ; chr11:g.108135149T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108135149T>A , CM000673.2:g.108135149T>A	GRCh38
NC_000011.9:g.108005876T>A , CM000673.1:g.108005876T>A	GRCh37
NC_000011.8:g.107511086T>A	NCBI36
NG_009888.1:g.18619T>A
NG_009888.2:g.23445T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265838.9:c.342T>A MANE Select	ENSP00000265838.4:p.Pro114=
ENST00000671707.1:n.437T>A
ENST00000672008.1:c.314+853T>A	ENSP00000500499.1:n.314+853T>A
ENST00000672031.1:c.342T>A	ENSP00000500463.1:p.Pro114=
ENST00000672284.1:c.72T>A	ENSP00000500444.1:p.Pro24=
ENST00000672354.1:c.342T>A	ENSP00000500490.1:p.Pro114=
ENST00000672367.1:c.73-3749T>A	ENSP00000500209.1:n.73-3749T>A
ENST00000672580.1:c.342T>A	ENSP00000500366.1:p.Pro114=
ENST00000672907.1:c.120+3195T>A	ENSP00000500928.1:n.120+3195T>A
ENST00000673000.1:n.430T>A
ENST00000673531.1:c.72T>A	ENSP00000500163.1:p.Pro24=
ENST00000265838.8:c.342T>A	ENSP00000265838.4:p.Pro114=
ENST00000299355.10:c.342T>A	ENSP00000299355.6:p.Pro114=
ENST00000527942.5:c.72T>A	ENSP00000433568.1:p.Pro24=
ENST00000528370.1:c.148T>A
ENST00000531813.5:c.334+833T>A	ENSP00000435965.1:n.334+833T>A
NM_000019.3:c.342T>A	NP_000010.1:p.Pro114=
XM_006718834.2:c.72T>A	XP_006718897.1:p.Pro24=
XM_006718835.2:c.72T>A	XP_006718898.1:p.Pro24=
XM_006718835.3:c.72T>A	XP_006718898.1:p.Pro24=
XM_017017681.1:c.72T>A	XP_016873170.1:p.Pro24=
XM_017017682.2:c.57+833T>A	XP_016873171.1:n.57+833T>A
XM_017017683.2:c.57+833T>A	XP_016873172.1:n.57+833T>A
XM_024448511.1:c.72T>A	XP_024304279.1:p.Pro24=
XM_024448512.1:c.72T>A	XP_024304280.1:p.Pro24=
XM_024448513.1:c.72T>A	XP_024304281.1:p.Pro24=
XM_024448514.1:c.72T>A	XP_024304282.1:p.Pro24=
XM_024448515.1:c.72T>A	XP_024304283.1:p.Pro24=
NM_000019.4:c.342T>A MANE Select	NP_000010.1:p.Pro114=
NM_001386677.1:c.342T>A	NP_001373606.1:p.Pro114=
NM_001386678.1:c.120+3195T>A	NP_001373607.1:n.120+3195T>A
NM_001386679.1:c.45T>A	NP_001373608.1:p.Pro15=
NM_001386681.1:c.72T>A	NP_001373610.1:p.Pro24=
NM_001386682.1:c.72T>A	NP_001373611.1:p.Pro24=
NM_001386685.1:c.72T>A	NP_001373614.1:p.Pro24=
NM_001386686.1:c.72T>A	NP_001373615.1:p.Pro24=
NM_001386687.1:c.72T>A	NP_001373616.1:p.Pro24=
NM_001386688.1:c.72T>A	NP_001373617.1:p.Pro24=
NM_001386689.1:c.72T>A	NP_001373618.1:p.Pro24=
NM_001386690.1:c.72T>A	NP_001373619.1:p.Pro24=
NM_001386691.1:c.72T>A	NP_001373620.1:p.Pro24=
NR_170162.1:n.382T>A
NR_170163.1:n.468+833T>A