Canonical Allele Identifier: CA382508373

Gene: ACAT1

Linked Data

• MyVariant Identifiers: chr11:g.108016951A>C (hg19) ; chr11:g.108146224A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108146224A>C , CM000673.2:g.108146224A>C	GRCh38
NC_000011.9:g.108016951A>C , CM000673.1:g.108016951A>C	GRCh37
NC_000011.8:g.107522161A>C	NCBI36
NG_009888.1:g.29694A>C
NG_009888.2:g.34520A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265838.9:c.1028A>C MANE Select	ENSP00000265838.4:p.Lys343Thr
ENST00000671707.1:n.1123A>C
ENST00000672031.1:c.*15A>C	ENSP00000500463.1:n.*15A>C
ENST00000672284.1:c.758A>C	ENSP00000500444.1:p.Lys253Thr
ENST00000672354.1:c.1028A>C	ENSP00000500490.1:p.Lys343Thr
ENST00000672367.1:c.665A>C	ENSP00000500209.1:p.Lys222Thr
ENST00000672580.1:c.*283A>C	ENSP00000500366.1:n.*283A>C
ENST00000672907.1:c.713A>C	ENSP00000500928.1:p.Lys238Thr
ENST00000673000.1:n.1116A>C
ENST00000673531.1:c.758A>C	ENSP00000500163.1:p.Lys253Thr
ENST00000265838.8:c.1028A>C	ENSP00000265838.4:p.Lys343Thr
ENST00000533597.1:n.104A>C
NM_000019.3:c.1028A>C	NP_000010.1:p.Lys343Thr
XM_006718834.2:c.758A>C	XP_006718897.1:p.Lys253Thr
XM_006718835.2:c.758A>C	XP_006718898.1:p.Lys253Thr
XM_006718835.3:c.758A>C	XP_006718898.1:p.Lys253Thr
XM_017017681.1:c.758A>C	XP_016873170.1:p.Lys253Thr
XM_017017682.2:c.650A>C	XP_016873171.1:p.Lys217Thr
XM_017017683.2:c.650A>C	XP_016873172.1:p.Lys217Thr
XM_024448511.1:c.758A>C	XP_024304279.1:p.Lys253Thr
XM_024448512.1:c.758A>C	XP_024304280.1:p.Lys253Thr
XM_024448513.1:c.758A>C	XP_024304281.1:p.Lys253Thr
XM_024448514.1:c.758A>C	XP_024304282.1:p.Lys253Thr
XM_024448515.1:c.758A>C	XP_024304283.1:p.Lys253Thr
NM_000019.4:c.1028A>C MANE Select	NP_000010.1:p.Lys343Thr
NM_001386677.1:c.1028A>C	NP_001373606.1:p.Lys343Thr
NM_001386678.1:c.713A>C	NP_001373607.1:p.Lys238Thr
NM_001386679.1:c.731A>C	NP_001373608.1:p.Lys244Thr
NM_001386681.1:c.758A>C	NP_001373610.1:p.Lys253Thr
NM_001386682.1:c.758A>C	NP_001373611.1:p.Lys253Thr
NM_001386685.1:c.758A>C	NP_001373614.1:p.Lys253Thr
NM_001386686.1:c.758A>C	NP_001373615.1:p.Lys253Thr
NM_001386687.1:c.758A>C	NP_001373616.1:p.Lys253Thr
NM_001386688.1:c.758A>C	NP_001373617.1:p.Lys253Thr
NM_001386689.1:c.758A>C	NP_001373618.1:p.Lys253Thr
NM_001386690.1:c.758A>C	NP_001373619.1:p.Lys253Thr
NM_001386691.1:c.758A>C	NP_001373620.1:p.Lys253Thr
NR_170162.1:n.1003A>C
NR_170163.1:n.1061A>C