Canonical Allele Identifier: CA382508779

Gene: ACAT1

Linked Data

• ClinVar Variation Id: 2906490
• ClinVar RCV Id: RCV003606878
• gnomAD v4: 11-108147313-A-T
• MyVariant Identifiers: chr11:g.108018040A>T (hg19) ; chr11:g.108147313A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108147313A>T , CM000673.2:g.108147313A>T	GRCh38
NC_000011.9:g.108018040A>T , CM000673.1:g.108018040A>T	GRCh37
NC_000011.8:g.107523250A>T	NCBI36
NG_009888.1:g.30783A>T
NG_009888.2:g.35609A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265838.9:c.1207A>T MANE Select	ENSP00000265838.4:p.Lys403Ter
ENST00000671707.1:n.1302A>T
ENST00000672031.1:c.*194A>T	ENSP00000500463.1:n.*194A>T
ENST00000672284.1:c.937A>T	ENSP00000500444.1:p.Lys313Ter
ENST00000672354.1:c.1228A>T	ENSP00000500490.1:p.Lys410Ter
ENST00000672367.1:c.844A>T	ENSP00000500209.1:p.Lys282Ter
ENST00000672580.1:c.*462A>T	ENSP00000500366.1:n.*462A>T
ENST00000672907.1:c.892A>T	ENSP00000500928.1:p.Lys298Ter
ENST00000673000.1:n.1295A>T
ENST00000673531.1:c.937A>T	ENSP00000500163.1:p.Lys313Ter
ENST00000265838.8:c.1207A>T	ENSP00000265838.4:p.Lys403Ter
ENST00000533597.1:n.283A>T
NM_000019.3:c.1207A>T	NP_000010.1:p.Lys403Ter
XM_006718834.2:c.937A>T	XP_006718897.1:p.Lys313Ter
XM_006718835.2:c.937A>T	XP_006718898.1:p.Lys313Ter
XM_006718835.3:c.937A>T	XP_006718898.1:p.Lys313Ter
XM_017017681.1:c.937A>T	XP_016873170.1:p.Lys313Ter
XM_017017682.2:c.829A>T	XP_016873171.1:p.Lys277Ter
XM_017017683.2:c.829A>T	XP_016873172.1:p.Lys277Ter
XM_024448511.1:c.937A>T	XP_024304279.1:p.Lys313Ter
XM_024448512.1:c.937A>T	XP_024304280.1:p.Lys313Ter
XM_024448513.1:c.937A>T	XP_024304281.1:p.Lys313Ter
XM_024448514.1:c.937A>T	XP_024304282.1:p.Lys313Ter
XM_024448515.1:c.937A>T	XP_024304283.1:p.Lys313Ter
NM_000019.4:c.1207A>T MANE Select	NP_000010.1:p.Lys403Ter
NM_001386677.1:c.1228A>T	NP_001373606.1:p.Lys410Ter
NM_001386678.1:c.892A>T	NP_001373607.1:p.Lys298Ter
NM_001386679.1:c.910A>T	NP_001373608.1:p.Lys304Ter
NM_001386681.1:c.937A>T	NP_001373610.1:p.Lys313Ter
NM_001386682.1:c.937A>T	NP_001373611.1:p.Lys313Ter
NM_001386685.1:c.937A>T	NP_001373614.1:p.Lys313Ter
NM_001386686.1:c.937A>T	NP_001373615.1:p.Lys313Ter
NM_001386687.1:c.937A>T	NP_001373616.1:p.Lys313Ter
NM_001386688.1:c.937A>T	NP_001373617.1:p.Lys313Ter
NM_001386689.1:c.937A>T	NP_001373618.1:p.Lys313Ter
NM_001386690.1:c.937A>T	NP_001373619.1:p.Lys313Ter
NM_001386691.1:c.937A>T	NP_001373620.1:p.Lys313Ter
NR_170162.1:n.1182A>T
NR_170163.1:n.1240A>T