Canonical Allele Identifier: CA671408071

Gene: ACAT1

Linked Data

• dbSNP Id: rs1272358834
• gnomAD v3: 11-108139229-C-T
• gnomAD v4: 11-108139229-C-T
• MyVariant Identifiers: chr11:g.108009956C>T (hg19) ; chr11:g.108139229C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108139229C>T , CM000673.2:g.108139229C>T	GRCh38
NC_000011.9:g.108009956C>T , CM000673.1:g.108009956C>T	GRCh37
NC_000011.8:g.107515166C>T	NCBI36
NG_009888.1:g.22699C>T
NG_009888.2:g.27525C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265838.9:c.579+188C>T MANE Select	ENSP00000265838.4:n.579+188C>T
ENST00000671707.1:n.674+188C>T
ENST00000672008.1:c.*137+188C>T	ENSP00000500499.1:n.*137+188C>T
ENST00000672031.1:c.579+188C>T	ENSP00000500463.1:n.579+188C>T
ENST00000672284.1:c.309+188C>T	ENSP00000500444.1:n.309+188C>T
ENST00000672354.1:c.579+188C>T	ENSP00000500490.1:n.579+188C>T
ENST00000672367.1:c.216+188C>T	ENSP00000500209.1:n.216+188C>T
ENST00000672580.1:c.579+188C>T	ENSP00000500366.1:n.579+188C>T
ENST00000672907.1:c.264+188C>T	ENSP00000500928.1:n.264+188C>T
ENST00000673000.1:n.667+188C>T
ENST00000673531.1:c.309+188C>T	ENSP00000500163.1:n.309+188C>T
ENST00000265838.8:c.579+188C>T	ENSP00000265838.4:n.579+188C>T
ENST00000531813.5:c.*52+188C>T	ENSP00000435965.1:n.*52+188C>T
ENST00000532792.5:n.74+188C>T
ENST00000534773.1:n.322+188C>T
NM_000019.3:c.579+188C>T	NP_000010.1:n.579+188C>T
XM_006718834.2:c.309+188C>T	XP_006718897.1:n.309+188C>T
XM_006718835.2:c.309+188C>T	XP_006718898.1:n.309+188C>T
XM_006718835.3:c.309+188C>T	XP_006718898.1:n.309+188C>T
XM_017017681.1:c.309+188C>T	XP_016873170.1:n.309+188C>T
XM_017017682.2:c.201+188C>T	XP_016873171.1:n.201+188C>T
XM_017017683.2:c.201+188C>T	XP_016873172.1:n.201+188C>T
XM_024448511.1:c.309+188C>T	XP_024304279.1:n.309+188C>T
XM_024448512.1:c.309+188C>T	XP_024304280.1:n.309+188C>T
XM_024448513.1:c.309+188C>T	XP_024304281.1:n.309+188C>T
XM_024448514.1:c.309+188C>T	XP_024304282.1:n.309+188C>T
XM_024448515.1:c.309+188C>T	XP_024304283.1:n.309+188C>T
NM_000019.4:c.579+188C>T MANE Select	NP_000010.1:n.579+188C>T
NM_001386677.1:c.579+188C>T	NP_001373606.1:n.579+188C>T
NM_001386678.1:c.264+188C>T	NP_001373607.1:n.264+188C>T
NM_001386679.1:c.282+188C>T	NP_001373608.1:n.282+188C>T
NM_001386681.1:c.309+188C>T	NP_001373610.1:n.309+188C>T
NM_001386682.1:c.309+188C>T	NP_001373611.1:n.309+188C>T
NM_001386685.1:c.309+188C>T	NP_001373614.1:n.309+188C>T
NM_001386686.1:c.309+188C>T	NP_001373615.1:n.309+188C>T
NM_001386687.1:c.309+188C>T	NP_001373616.1:n.309+188C>T
NM_001386688.1:c.309+188C>T	NP_001373617.1:n.309+188C>T
NM_001386689.1:c.309+188C>T	NP_001373618.1:n.309+188C>T
NM_001386690.1:c.309+188C>T	NP_001373619.1:n.309+188C>T
NM_001386691.1:c.309+188C>T	NP_001373620.1:n.309+188C>T
NR_170162.1:n.619+188C>T
NR_170163.1:n.612+188C>T