Canonical Allele Identifier: CA382507480

Gene: ACAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108140113G>T , CM000673.2:g.108140113G>T	GRCh38
NC_000011.9:g.108010840G>T , CM000673.1:g.108010840G>T	GRCh37
NC_000011.8:g.107516050G>T	NCBI36
NG_009888.1:g.23583G>T
NG_009888.2:g.28409G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000019.4:c.628G>T MANE Select	NP_000010.1:p.Glu210Ter
ENST00000265838.9:c.628G>T MANE Select	ENSP00000265838.4:p.Glu210Ter
NM_000019.3:c.628G>T	NP_000010.1:p.Glu210Ter
NM_001386677.1:c.628G>T	NP_001373606.1:p.Glu210Ter
NM_001386678.1:c.313G>T	NP_001373607.1:p.Glu105Ter
NM_001386679.1:c.331G>T	NP_001373608.1:p.Glu111Ter
NM_001386681.1:c.358G>T	NP_001373610.1:p.Glu120Ter
NM_001386682.1:c.358G>T	NP_001373611.1:p.Glu120Ter
NM_001386685.1:c.358G>T	NP_001373614.1:p.Glu120Ter
NM_001386686.1:c.358G>T	NP_001373615.1:p.Glu120Ter
NM_001386687.1:c.358G>T	NP_001373616.1:p.Glu120Ter
NM_001386688.1:c.358G>T	NP_001373617.1:p.Glu120Ter
NM_001386689.1:c.358G>T	NP_001373618.1:p.Glu120Ter
NM_001386690.1:c.358G>T	NP_001373619.1:p.Glu120Ter
NM_001386691.1:c.358G>T	NP_001373620.1:p.Glu120Ter
NR_170162.1:n.668G>T
NR_170163.1:n.661G>T
ENST00000265838.8:c.628G>T	ENSP00000265838.4:p.Glu210Ter
ENST00000531813.5:c.*101G>T	ENSP00000435965.1:n.*101G>T
ENST00000532792.5:n.123G>T
ENST00000533610.1:n.89G>T
ENST00000534773.1:n.371G>T
ENST00000671707.1:n.723G>T
ENST00000672008.1:c.*186G>T	ENSP00000500499.1:n.*186G>T
ENST00000672031.1:c.628G>T	ENSP00000500463.1:p.Glu210Ter
ENST00000672284.1:c.358G>T	ENSP00000500444.1:p.Glu120Ter
ENST00000672354.1:c.628G>T	ENSP00000500490.1:p.Glu210Ter
ENST00000672367.1:c.265G>T	ENSP00000500209.1:p.Glu89Ter
ENST00000672580.1:c.579+1072G>T	ENSP00000500366.1:n.579+1072G>T
ENST00000672907.1:c.313G>T	ENSP00000500928.1:p.Glu105Ter
ENST00000673000.1:n.716G>T
ENST00000673531.1:c.358G>T	ENSP00000500163.1:p.Glu120Ter
XM_006718834.2:c.358G>T	XP_006718897.1:p.Glu120Ter
XM_006718835.2:c.358G>T	XP_006718898.1:p.Glu120Ter
XM_006718835.3:c.358G>T	XP_006718898.1:p.Glu120Ter
XM_017017681.1:c.358G>T	XP_016873170.1:p.Glu120Ter
XM_017017682.2:c.250G>T	XP_016873171.1:p.Glu84Ter
XM_017017683.2:c.250G>T	XP_016873172.1:p.Glu84Ter
XM_024448511.1:c.358G>T	XP_024304279.1:p.Glu120Ter
XM_024448512.1:c.358G>T	XP_024304280.1:p.Glu120Ter
XM_024448513.1:c.358G>T	XP_024304281.1:p.Glu120Ter
XM_024448514.1:c.358G>T	XP_024304282.1:p.Glu120Ter
XM_024448515.1:c.358G>T	XP_024304283.1:p.Glu120Ter