Canonical Allele Identifier: CA6263319

Gene: ACAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108143991G>A , CM000673.2:g.108143991G>A	GRCh38
NC_000011.9:g.108014718G>A , CM000673.1:g.108014718G>A	GRCh37
NC_000011.8:g.107519928G>A	NCBI36
NG_009888.1:g.27461G>A
NG_009888.2:g.32287G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000019.4:c.949G>A MANE Select	NP_000010.1:p.Asp317Asn
ENST00000265838.9:c.949G>A MANE Select	ENSP00000265838.4:p.Asp317Asn
NM_000019.3:c.949G>A	NP_000010.1:p.Asp317Asn
NM_001386677.1:c.949G>A	NP_001373606.1:p.Asp317Asn
NM_001386678.1:c.634G>A	NP_001373607.1:p.Asp212Asn
NM_001386679.1:c.652G>A	NP_001373608.1:p.Asp218Asn
NM_001386681.1:c.679G>A	NP_001373610.1:p.Asp227Asn
NM_001386682.1:c.679G>A	NP_001373611.1:p.Asp227Asn
NM_001386685.1:c.679G>A	NP_001373614.1:p.Asp227Asn
NM_001386686.1:c.679G>A	NP_001373615.1:p.Asp227Asn
NM_001386687.1:c.679G>A	NP_001373616.1:p.Asp227Asn
NM_001386688.1:c.679G>A	NP_001373617.1:p.Asp227Asn
NM_001386689.1:c.679G>A	NP_001373618.1:p.Asp227Asn
NM_001386690.1:c.679G>A	NP_001373619.1:p.Asp227Asn
NM_001386691.1:c.679G>A	NP_001373620.1:p.Asp227Asn
NR_170162.1:n.980+1441G>A
NR_170163.1:n.982G>A
ENST00000265838.8:c.949G>A	ENSP00000265838.4:p.Asp317Asn
ENST00000532792.5:n.444G>A
ENST00000533610.1:n.410G>A
ENST00000671707.1:n.1044G>A
ENST00000672031.1:c.940+1441G>A	ENSP00000500463.1:n.940+1441G>A
ENST00000672284.1:c.679G>A	ENSP00000500444.1:p.Asp227Asn
ENST00000672354.1:c.949G>A	ENSP00000500490.1:p.Asp317Asn
ENST00000672367.1:c.586G>A	ENSP00000500209.1:p.Asp196Asn
ENST00000672580.1:c.*204G>A	ENSP00000500366.1:n.*204G>A
ENST00000672907.1:c.634G>A	ENSP00000500928.1:p.Asp212Asn
ENST00000673000.1:n.1037G>A
ENST00000673531.1:c.679G>A	ENSP00000500163.1:p.Asp227Asn
XM_006718834.2:c.679G>A	XP_006718897.1:p.Asp227Asn
XM_006718835.2:c.679G>A	XP_006718898.1:p.Asp227Asn
XM_006718835.3:c.679G>A	XP_006718898.1:p.Asp227Asn
XM_017017681.1:c.679G>A	XP_016873170.1:p.Asp227Asn
XM_017017682.2:c.571G>A	XP_016873171.1:p.Asp191Asn
XM_017017683.2:c.571G>A	XP_016873172.1:p.Asp191Asn
XM_024448511.1:c.679G>A	XP_024304279.1:p.Asp227Asn
XM_024448512.1:c.679G>A	XP_024304280.1:p.Asp227Asn
XM_024448513.1:c.679G>A	XP_024304281.1:p.Asp227Asn
XM_024448514.1:c.679G>A	XP_024304282.1:p.Asp227Asn
XM_024448515.1:c.679G>A	XP_024304283.1:p.Asp227Asn