Canonical Allele Identifier: CA916083274

Gene: ACAT1

Linked Data

• ClinVar Variation Id: 853510
• ClinVar RCV Id: RCV001058332
• dbSNP Id: rs2077737059

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108147287_108147317dup , CM000673.2:g.108147287_108147317dup	GRCh38
NC_000011.9:g.108018014_108018044dup , CM000673.1:g.108018014_108018044dup	GRCh37
NC_000011.8:g.107523224_107523254dup	NCBI36
NG_009888.1:g.30757_30787dup
NG_009888.2:g.35583_35613dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265838.9:c.1181_1211dup MANE Select	ENSP00000265838.4:p.Gln404HisfsTer?
ENST00000671707.1:n.1276_1306dup
ENST00000672031.1:c.*168_*198dup	ENSP00000500463.1:n.*168_*198dup
ENST00000672284.1:c.911_941dup	ENSP00000500444.1:p.Gln314HisfsTer?
ENST00000672354.1:c.1202_1232dup	ENSP00000500490.1:p.Gln411HisfsTer?
ENST00000672367.1:c.818_848dup	ENSP00000500209.1:p.Gln283HisfsTer?
ENST00000672580.1:c.*436_*466dup	ENSP00000500366.1:n.*436_*466dup
ENST00000672907.1:c.866_896dup	ENSP00000500928.1:p.Gln299HisfsTer?
ENST00000673000.1:n.1269_1299dup
ENST00000673531.1:c.911_941dup	ENSP00000500163.1:p.Gln314HisfsTer?
ENST00000265838.8:c.1181_1211dup	ENSP00000265838.4:p.Gln404HisfsTer?
ENST00000533597.1:n.257_287dup
NM_000019.3:c.1181_1211dup	NP_000010.1:p.Gln404HisfsTer?
XM_006718834.2:c.911_941dup	XP_006718897.1:p.Gln314HisfsTer?
XM_006718835.2:c.911_941dup	XP_006718898.1:p.Gln314HisfsTer?
XM_006718835.3:c.911_941dup	XP_006718898.1:p.Gln314HisfsTer?
XM_017017681.1:c.911_941dup	XP_016873170.1:p.Gln314HisfsTer?
XM_017017682.2:c.803_833dup	XP_016873171.1:p.Gln278HisfsTer?
XM_017017683.2:c.803_833dup	XP_016873172.1:p.Gln278HisfsTer?
XM_024448511.1:c.911_941dup	XP_024304279.1:p.Gln314HisfsTer?
XM_024448512.1:c.911_941dup	XP_024304280.1:p.Gln314HisfsTer?
XM_024448513.1:c.911_941dup	XP_024304281.1:p.Gln314HisfsTer?
XM_024448514.1:c.911_941dup	XP_024304282.1:p.Gln314HisfsTer?
XM_024448515.1:c.911_941dup	XP_024304283.1:p.Gln314HisfsTer?
NM_000019.4:c.1181_1211dup MANE Select	NP_000010.1:p.Gln404HisfsTer?
NM_001386677.1:c.1202_1232dup	NP_001373606.1:p.Gln411HisfsTer?
NM_001386678.1:c.866_896dup	NP_001373607.1:p.Gln299HisfsTer?
NM_001386679.1:c.884_914dup	NP_001373608.1:p.Gln305HisfsTer?
NM_001386681.1:c.911_941dup	NP_001373610.1:p.Gln314HisfsTer?
NM_001386682.1:c.911_941dup	NP_001373611.1:p.Gln314HisfsTer?
NM_001386685.1:c.911_941dup	NP_001373614.1:p.Gln314HisfsTer?
NM_001386686.1:c.911_941dup	NP_001373615.1:p.Gln314HisfsTer?
NM_001386687.1:c.911_941dup	NP_001373616.1:p.Gln314HisfsTer?
NM_001386688.1:c.911_941dup	NP_001373617.1:p.Gln314HisfsTer?
NM_001386689.1:c.911_941dup	NP_001373618.1:p.Gln314HisfsTer?
NM_001386690.1:c.911_941dup	NP_001373619.1:p.Gln314HisfsTer?
NM_001386691.1:c.911_941dup	NP_001373620.1:p.Gln314HisfsTer?
NR_170162.1:n.1156_1186dup
NR_170163.1:n.1214_1244dup