Canonical Allele Identifier: CA382507368

Gene: ACAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108140063A>G , CM000673.2:g.108140063A>G	GRCh38
NC_000011.9:g.108010790A>G , CM000673.1:g.108010790A>G	GRCh37
NC_000011.8:g.107516000A>G	NCBI36
NG_009888.1:g.23533A>G
NG_009888.2:g.28359A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000019.4:c.580-2A>G MANE Select	NP_000010.1:n.580-2A>G
ENST00000265838.9:c.580-2A>G MANE Select	ENSP00000265838.4:n.580-2A>G
NM_000019.3:c.580-2A>G	NP_000010.1:n.580-2A>G
NM_001386677.1:c.580-2A>G	NP_001373606.1:n.580-2A>G
NM_001386678.1:c.265-2A>G	NP_001373607.1:n.265-2A>G
NM_001386679.1:c.283-2A>G	NP_001373608.1:n.283-2A>G
NM_001386681.1:c.310-2A>G	NP_001373610.1:n.310-2A>G
NM_001386682.1:c.310-2A>G	NP_001373611.1:n.310-2A>G
NM_001386685.1:c.310-2A>G	NP_001373614.1:n.310-2A>G
NM_001386686.1:c.310-2A>G	NP_001373615.1:n.310-2A>G
NM_001386687.1:c.310-2A>G	NP_001373616.1:n.310-2A>G
NM_001386688.1:c.310-2A>G	NP_001373617.1:n.310-2A>G
NM_001386689.1:c.310-2A>G	NP_001373618.1:n.310-2A>G
NM_001386690.1:c.310-2A>G	NP_001373619.1:n.310-2A>G
NM_001386691.1:c.310-2A>G	NP_001373620.1:n.310-2A>G
NR_170162.1:n.620-2A>G
NR_170163.1:n.613-2A>G
ENST00000265838.8:c.580-2A>G	ENSP00000265838.4:n.580-2A>G
ENST00000531813.5:c.*53-2A>G	ENSP00000435965.1:n.*53-2A>G
ENST00000532792.5:n.75-2A>G
ENST00000533610.1:n.39A>G
ENST00000534773.1:n.323-2A>G
ENST00000671707.1:n.675-2A>G
ENST00000672008.1:c.*138-2A>G	ENSP00000500499.1:n.*138-2A>G
ENST00000672031.1:c.580-2A>G	ENSP00000500463.1:n.580-2A>G
ENST00000672284.1:c.310-2A>G	ENSP00000500444.1:n.310-2A>G
ENST00000672354.1:c.580-2A>G	ENSP00000500490.1:n.580-2A>G
ENST00000672367.1:c.217-2A>G	ENSP00000500209.1:n.217-2A>G
ENST00000672580.1:c.579+1022A>G	ENSP00000500366.1:n.579+1022A>G
ENST00000672907.1:c.265-2A>G	ENSP00000500928.1:n.265-2A>G
ENST00000673000.1:n.668-2A>G
ENST00000673531.1:c.310-2A>G	ENSP00000500163.1:n.310-2A>G
XM_006718834.2:c.310-2A>G	XP_006718897.1:n.310-2A>G
XM_006718835.2:c.310-2A>G	XP_006718898.1:n.310-2A>G
XM_006718835.3:c.310-2A>G	XP_006718898.1:n.310-2A>G
XM_017017681.1:c.310-2A>G	XP_016873170.1:n.310-2A>G
XM_017017682.2:c.202-2A>G	XP_016873171.1:n.202-2A>G
XM_017017683.2:c.202-2A>G	XP_016873172.1:n.202-2A>G
XM_024448511.1:c.310-2A>G	XP_024304279.1:n.310-2A>G
XM_024448512.1:c.310-2A>G	XP_024304280.1:n.310-2A>G
XM_024448513.1:c.310-2A>G	XP_024304281.1:n.310-2A>G
XM_024448514.1:c.310-2A>G	XP_024304282.1:n.310-2A>G
XM_024448515.1:c.310-2A>G	XP_024304283.1:n.310-2A>G