Canonical Allele Identifier: CA382505476

Gene: ACAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108121607A>C , CM000673.2:g.108121607A>C	GRCh38
NC_000011.9:g.107992334A>C , CM000673.1:g.107992334A>C	GRCh37
NC_000011.8:g.107497544A>C	NCBI36
NG_009888.1:g.5077A>C
NG_009888.2:g.9903A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000019.4:c.1A>C MANE Select	NP_000010.1:p.Met1Leu
ENST00000265838.9:c.1A>C MANE Select	ENSP00000265838.4:p.Met1Leu
NM_000019.3:c.1A>C	NP_000010.1:p.Met1Leu
NM_001386677.1:c.1A>C	NP_001373606.1:p.Met1Leu
NM_001386678.1:c.1A>C	NP_001373607.1:p.Met1Leu
NM_001386679.1:c.-277A>C	NP_001373608.1:n.-277A>C
NM_001386681.1:c.-199+4705A>C	NP_001373610.1:n.-199+4705A>C
NM_001386682.1:c.-416+4705A>C	NP_001373611.1:n.-416+4705A>C
NM_001386685.1:c.-364A>C	NP_001373614.1:n.-364A>C
NM_001386686.1:c.-369A>C	NP_001373615.1:n.-369A>C
NR_170162.1:n.41A>C
NR_170163.1:n.41A>C
ENST00000265838.8:c.1A>C	ENSP00000265838.4:p.Met1Leu
ENST00000299355.10:c.1A>C	ENSP00000299355.6:p.Met1Leu
ENST00000524833.5:n.41A>C
ENST00000531813.5:c.1A>C	ENSP00000435965.1:p.Met1Leu
ENST00000672008.1:c.1A>C	ENSP00000500499.1:p.Met1Leu
ENST00000672031.1:c.1A>C	ENSP00000500463.1:p.Met1Leu
ENST00000672284.1:c.-199+4705A>C	ENSP00000500444.1:n.-199+4705A>C
ENST00000672354.1:c.1A>C	ENSP00000500490.1:p.Met1Leu
ENST00000672367.1:c.1A>C	ENSP00000500209.1:p.Met1Leu
ENST00000672580.1:c.1A>C	ENSP00000500366.1:p.Met1Leu
ENST00000672907.1:c.1A>C	ENSP00000500928.1:p.Met1Leu
ENST00000673531.1:c.-364A>C	ENSP00000500163.1:n.-364A>C
XM_017017681.1:c.-364A>C	XP_016873170.1:n.-364A>C
XM_017017682.2:c.-277A>C	XP_016873171.1:n.-277A>C
XM_017017683.2:c.-371A>C	XP_016873172.1:n.-371A>C
XM_024448512.1:c.-199+4705A>C	XP_024304280.1:n.-199+4705A>C