Canonical Allele Identifier: CA915947700

Gene: ACAT1

Linked Data

• ClinVar Variation Id: 666534
• ClinVar RCV Id: RCV000844843
• dbSNP Id: rs1591375843

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108147329_108147332dup , CM000673.2:g.108147329_108147332dup	GRCh38
NC_000011.9:g.108018056_108018059dup , CM000673.1:g.108018056_108018059dup	GRCh37
NC_000011.8:g.107523266_107523269dup	NCBI36
NG_009888.1:g.30799_30802dup
NG_009888.2:g.35625_35628dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265838.9:c.1223_1226dup MANE Select	ENSP00000265838.4:p.Ala410SerfsTer?
ENST00000671707.1:n.1318_1321dup
ENST00000672031.1:c.*210_*213dup	ENSP00000500463.1:n.*210_*213dup
ENST00000672284.1:c.953_956dup	ENSP00000500444.1:p.Ala320SerfsTer?
ENST00000672354.1:c.1244_1247dup	ENSP00000500490.1:p.Ala417SerfsTer?
ENST00000672367.1:c.860_863dup	ENSP00000500209.1:p.Ala289SerfsTer?
ENST00000672580.1:c.*478_*481dup	ENSP00000500366.1:n.*478_*481dup
ENST00000672907.1:c.908_911dup	ENSP00000500928.1:p.Ala305SerfsTer?
ENST00000673000.1:n.1311_1314dup
ENST00000673531.1:c.953_956dup	ENSP00000500163.1:p.Ala320SerfsTer?
ENST00000265838.8:c.1223_1226dup	ENSP00000265838.4:p.Ala410SerfsTer?
ENST00000533597.1:n.299_302dup
NM_000019.3:c.1223_1226dup	NP_000010.1:p.Ala410SerfsTer?
XM_006718834.2:c.953_956dup	XP_006718897.1:p.Ala320SerfsTer?
XM_006718835.2:c.953_956dup	XP_006718898.1:p.Ala320SerfsTer?
XM_006718835.3:c.953_956dup	XP_006718898.1:p.Ala320SerfsTer?
XM_017017681.1:c.953_956dup	XP_016873170.1:p.Ala320SerfsTer?
XM_017017682.2:c.845_848dup	XP_016873171.1:p.Ala284SerfsTer?
XM_017017683.2:c.845_848dup	XP_016873172.1:p.Ala284SerfsTer?
XM_024448511.1:c.953_956dup	XP_024304279.1:p.Ala320SerfsTer?
XM_024448512.1:c.953_956dup	XP_024304280.1:p.Ala320SerfsTer?
XM_024448513.1:c.953_956dup	XP_024304281.1:p.Ala320SerfsTer?
XM_024448514.1:c.953_956dup	XP_024304282.1:p.Ala320SerfsTer?
XM_024448515.1:c.953_956dup	XP_024304283.1:p.Ala320SerfsTer?
NM_000019.4:c.1223_1226dup MANE Select	NP_000010.1:p.Ala410SerfsTer?
NM_001386677.1:c.1244_1247dup	NP_001373606.1:p.Ala417SerfsTer?
NM_001386678.1:c.908_911dup	NP_001373607.1:p.Ala305SerfsTer?
NM_001386679.1:c.926_929dup	NP_001373608.1:p.Ala311SerfsTer?
NM_001386681.1:c.953_956dup	NP_001373610.1:p.Ala320SerfsTer?
NM_001386682.1:c.953_956dup	NP_001373611.1:p.Ala320SerfsTer?
NM_001386685.1:c.953_956dup	NP_001373614.1:p.Ala320SerfsTer?
NM_001386686.1:c.953_956dup	NP_001373615.1:p.Ala320SerfsTer?
NM_001386687.1:c.953_956dup	NP_001373616.1:p.Ala320SerfsTer?
NM_001386688.1:c.953_956dup	NP_001373617.1:p.Ala320SerfsTer?
NM_001386689.1:c.953_956dup	NP_001373618.1:p.Ala320SerfsTer?
NM_001386690.1:c.953_956dup	NP_001373619.1:p.Ala320SerfsTer?
NM_001386691.1:c.953_956dup	NP_001373620.1:p.Ala320SerfsTer?
NR_170162.1:n.1198_1201dup
NR_170163.1:n.1256_1259dup