Canonical Allele Identifier: CA382506833

Gene: ACAT1

Linked Data

• ClinVar Variation Id: 2053305
• ClinVar RCV Id: RCV002919040
• MyVariant Identifiers: chr11:g.108005939G>T (hg19) ; chr11:g.108135212G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108135212G>T , CM000673.2:g.108135212G>T	GRCh38
NC_000011.9:g.108005939G>T , CM000673.1:g.108005939G>T	GRCh37
NC_000011.8:g.107511149G>T	NCBI36
NG_009888.1:g.18682G>T
NG_009888.2:g.23508G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265838.9:c.405G>T MANE Select	ENSP00000265838.4:p.Met135Ile
ENST00000671707.1:n.500G>T
ENST00000672008.1:c.314+916G>T	ENSP00000500499.1:n.314+916G>T
ENST00000672031.1:c.405G>T	ENSP00000500463.1:p.Met135Ile
ENST00000672284.1:c.135G>T	ENSP00000500444.1:p.Met45Ile
ENST00000672354.1:c.405G>T	ENSP00000500490.1:p.Met135Ile
ENST00000672367.1:c.73-3686G>T	ENSP00000500209.1:n.73-3686G>T
ENST00000672580.1:c.405G>T	ENSP00000500366.1:p.Met135Ile
ENST00000672907.1:c.120+3258G>T	ENSP00000500928.1:n.120+3258G>T
ENST00000673000.1:n.493G>T
ENST00000673531.1:c.135G>T	ENSP00000500163.1:p.Met45Ile
ENST00000265838.8:c.405G>T	ENSP00000265838.4:p.Met135Ile
ENST00000299355.10:c.405G>T	ENSP00000299355.6:p.Met135Ile
ENST00000527942.5:c.135G>T	ENSP00000433568.1:p.Met45Ile
ENST00000528370.1:c.211G>T
ENST00000531813.5:c.334+896G>T	ENSP00000435965.1:n.334+896G>T
NM_000019.3:c.405G>T	NP_000010.1:p.Met135Ile
XM_006718834.2:c.135G>T	XP_006718897.1:p.Met45Ile
XM_006718835.2:c.135G>T	XP_006718898.1:p.Met45Ile
XM_006718835.3:c.135G>T	XP_006718898.1:p.Met45Ile
XM_017017681.1:c.135G>T	XP_016873170.1:p.Met45Ile
XM_017017682.2:c.57+896G>T	XP_016873171.1:n.57+896G>T
XM_017017683.2:c.57+896G>T	XP_016873172.1:n.57+896G>T
XM_024448511.1:c.135G>T	XP_024304279.1:p.Met45Ile
XM_024448512.1:c.135G>T	XP_024304280.1:p.Met45Ile
XM_024448513.1:c.135G>T	XP_024304281.1:p.Met45Ile
XM_024448514.1:c.135G>T	XP_024304282.1:p.Met45Ile
XM_024448515.1:c.135G>T	XP_024304283.1:p.Met45Ile
NM_000019.4:c.405G>T MANE Select	NP_000010.1:p.Met135Ile
NM_001386677.1:c.405G>T	NP_001373606.1:p.Met135Ile
NM_001386678.1:c.120+3258G>T	NP_001373607.1:n.120+3258G>T
NM_001386679.1:c.108G>T	NP_001373608.1:p.Met36Ile
NM_001386681.1:c.135G>T	NP_001373610.1:p.Met45Ile
NM_001386682.1:c.135G>T	NP_001373611.1:p.Met45Ile
NM_001386685.1:c.135G>T	NP_001373614.1:p.Met45Ile
NM_001386686.1:c.135G>T	NP_001373615.1:p.Met45Ile
NM_001386687.1:c.135G>T	NP_001373616.1:p.Met45Ile
NM_001386688.1:c.135G>T	NP_001373617.1:p.Met45Ile
NM_001386689.1:c.135G>T	NP_001373618.1:p.Met45Ile
NM_001386690.1:c.135G>T	NP_001373619.1:p.Met45Ile
NM_001386691.1:c.135G>T	NP_001373620.1:p.Met45Ile
NR_170162.1:n.445G>T
NR_170163.1:n.468+896G>T