Canonical Allele Identifier: CA6263169

Gene: ACAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108140092A>C , CM000673.2:g.108140092A>C	GRCh38
NC_000011.9:g.108010819A>C , CM000673.1:g.108010819A>C	GRCh37
NC_000011.8:g.107516029A>C	NCBI36
NG_009888.1:g.23562A>C
NG_009888.2:g.28388A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000019.4:c.607A>C MANE Select	NP_000010.1:p.Lys203Gln
ENST00000265838.9:c.607A>C MANE Select	ENSP00000265838.4:p.Lys203Gln
NM_000019.3:c.607A>C	NP_000010.1:p.Lys203Gln
NM_001386677.1:c.607A>C	NP_001373606.1:p.Lys203Gln
NM_001386678.1:c.292A>C	NP_001373607.1:p.Lys98Gln
NM_001386679.1:c.310A>C	NP_001373608.1:p.Lys104Gln
NM_001386681.1:c.337A>C	NP_001373610.1:p.Lys113Gln
NM_001386682.1:c.337A>C	NP_001373611.1:p.Lys113Gln
NM_001386685.1:c.337A>C	NP_001373614.1:p.Lys113Gln
NM_001386686.1:c.337A>C	NP_001373615.1:p.Lys113Gln
NM_001386687.1:c.337A>C	NP_001373616.1:p.Lys113Gln
NM_001386688.1:c.337A>C	NP_001373617.1:p.Lys113Gln
NM_001386689.1:c.337A>C	NP_001373618.1:p.Lys113Gln
NM_001386690.1:c.337A>C	NP_001373619.1:p.Lys113Gln
NM_001386691.1:c.337A>C	NP_001373620.1:p.Lys113Gln
NR_170162.1:n.647A>C
NR_170163.1:n.640A>C
ENST00000265838.8:c.607A>C	ENSP00000265838.4:p.Lys203Gln
ENST00000531813.5:c.*80A>C	ENSP00000435965.1:n.*80A>C
ENST00000532792.5:n.102A>C
ENST00000533610.1:n.68A>C
ENST00000534773.1:n.350A>C
ENST00000671707.1:n.702A>C
ENST00000672008.1:c.*165A>C	ENSP00000500499.1:n.*165A>C
ENST00000672031.1:c.607A>C	ENSP00000500463.1:p.Lys203Gln
ENST00000672284.1:c.337A>C	ENSP00000500444.1:p.Lys113Gln
ENST00000672354.1:c.607A>C	ENSP00000500490.1:p.Lys203Gln
ENST00000672367.1:c.244A>C	ENSP00000500209.1:p.Lys82Gln
ENST00000672580.1:c.579+1051A>C	ENSP00000500366.1:n.579+1051A>C
ENST00000672907.1:c.292A>C	ENSP00000500928.1:p.Lys98Gln
ENST00000673000.1:n.695A>C
ENST00000673531.1:c.337A>C	ENSP00000500163.1:p.Lys113Gln
XM_006718834.2:c.337A>C	XP_006718897.1:p.Lys113Gln
XM_006718835.2:c.337A>C	XP_006718898.1:p.Lys113Gln
XM_006718835.3:c.337A>C	XP_006718898.1:p.Lys113Gln
XM_017017681.1:c.337A>C	XP_016873170.1:p.Lys113Gln
XM_017017682.2:c.229A>C	XP_016873171.1:p.Lys77Gln
XM_017017683.2:c.229A>C	XP_016873172.1:p.Lys77Gln
XM_024448511.1:c.337A>C	XP_024304279.1:p.Lys113Gln
XM_024448512.1:c.337A>C	XP_024304280.1:p.Lys113Gln
XM_024448513.1:c.337A>C	XP_024304281.1:p.Lys113Gln
XM_024448514.1:c.337A>C	XP_024304282.1:p.Lys113Gln
XM_024448515.1:c.337A>C	XP_024304283.1:p.Lys113Gln