Canonical Allele Identifier: CA382507580

Gene: ACAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108140159C>A , CM000673.2:g.108140159C>A	GRCh38
NC_000011.9:g.108010886C>A , CM000673.1:g.108010886C>A	GRCh37
NC_000011.8:g.107516096C>A	NCBI36
NG_009888.1:g.23629C>A
NG_009888.2:g.28455C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000019.4:c.674C>A MANE Select	NP_000010.1:p.Ala225Glu
ENST00000265838.9:c.674C>A MANE Select	ENSP00000265838.4:p.Ala225Glu
NM_000019.3:c.674C>A	NP_000010.1:p.Ala225Glu
NM_001386677.1:c.674C>A	NP_001373606.1:p.Ala225Glu
NM_001386678.1:c.359C>A	NP_001373607.1:p.Ala120Glu
NM_001386679.1:c.377C>A	NP_001373608.1:p.Ala126Glu
NM_001386681.1:c.404C>A	NP_001373610.1:p.Ala135Glu
NM_001386682.1:c.404C>A	NP_001373611.1:p.Ala135Glu
NM_001386685.1:c.404C>A	NP_001373614.1:p.Ala135Glu
NM_001386686.1:c.404C>A	NP_001373615.1:p.Ala135Glu
NM_001386687.1:c.404C>A	NP_001373616.1:p.Ala135Glu
NM_001386688.1:c.404C>A	NP_001373617.1:p.Ala135Glu
NM_001386689.1:c.404C>A	NP_001373618.1:p.Ala135Glu
NM_001386690.1:c.404C>A	NP_001373619.1:p.Ala135Glu
NM_001386691.1:c.404C>A	NP_001373620.1:p.Ala135Glu
NR_170162.1:n.714C>A
NR_170163.1:n.707C>A
ENST00000265838.8:c.674C>A	ENSP00000265838.4:p.Ala225Glu
ENST00000531813.5:c.*147C>A	ENSP00000435965.1:n.*147C>A
ENST00000532792.5:n.169C>A
ENST00000533610.1:n.135C>A
ENST00000534773.1:n.417C>A
ENST00000671707.1:n.769C>A
ENST00000672008.1:c.*232C>A	ENSP00000500499.1:n.*232C>A
ENST00000672031.1:c.674C>A	ENSP00000500463.1:p.Ala225Glu
ENST00000672284.1:c.404C>A	ENSP00000500444.1:p.Ala135Glu
ENST00000672354.1:c.674C>A	ENSP00000500490.1:p.Ala225Glu
ENST00000672367.1:c.311C>A	ENSP00000500209.1:p.Ala104Glu
ENST00000672580.1:c.579+1118C>A	ENSP00000500366.1:n.579+1118C>A
ENST00000672907.1:c.359C>A	ENSP00000500928.1:p.Ala120Glu
ENST00000673000.1:n.762C>A
ENST00000673531.1:c.404C>A	ENSP00000500163.1:p.Ala135Glu
XM_006718834.2:c.404C>A	XP_006718897.1:p.Ala135Glu
XM_006718835.2:c.404C>A	XP_006718898.1:p.Ala135Glu
XM_006718835.3:c.404C>A	XP_006718898.1:p.Ala135Glu
XM_017017681.1:c.404C>A	XP_016873170.1:p.Ala135Glu
XM_017017682.2:c.296C>A	XP_016873171.1:p.Ala99Glu
XM_017017683.2:c.296C>A	XP_016873172.1:p.Ala99Glu
XM_024448511.1:c.404C>A	XP_024304279.1:p.Ala135Glu
XM_024448512.1:c.404C>A	XP_024304280.1:p.Ala135Glu
XM_024448513.1:c.404C>A	XP_024304281.1:p.Ala135Glu
XM_024448514.1:c.404C>A	XP_024304282.1:p.Ala135Glu
XM_024448515.1:c.404C>A	XP_024304283.1:p.Ala135Glu