Canonical Allele Identifier: CA382508305

Gene: ACAT1

Linked Data

• MyVariant Identifiers: chr11:g.108014770C>T (hg19) ; chr11:g.108144043C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108144043C>T , CM000673.2:g.108144043C>T	GRCh38
NC_000011.9:g.108014770C>T , CM000673.1:g.108014770C>T	GRCh37
NC_000011.8:g.107519980C>T	NCBI36
NG_009888.1:g.27513C>T
NG_009888.2:g.32339C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265838.9:c.1001C>T MANE Select	ENSP00000265838.4:p.Ser334Phe
ENST00000671707.1:n.1096C>T
ENST00000672031.1:c.940+1493C>T	ENSP00000500463.1:n.940+1493C>T
ENST00000672284.1:c.731C>T	ENSP00000500444.1:p.Ser244Phe
ENST00000672354.1:c.1001C>T	ENSP00000500490.1:p.Ser334Phe
ENST00000672367.1:c.638C>T	ENSP00000500209.1:p.Ser213Phe
ENST00000672580.1:c.*256C>T	ENSP00000500366.1:n.*256C>T
ENST00000672907.1:c.686C>T	ENSP00000500928.1:p.Ser229Phe
ENST00000673000.1:n.1089C>T
ENST00000673531.1:c.731C>T	ENSP00000500163.1:p.Ser244Phe
ENST00000265838.8:c.1001C>T	ENSP00000265838.4:p.Ser334Phe
ENST00000532792.5:n.496C>T
ENST00000533610.1:n.462C>T
NM_000019.3:c.1001C>T	NP_000010.1:p.Ser334Phe
XM_006718834.2:c.731C>T	XP_006718897.1:p.Ser244Phe
XM_006718835.2:c.731C>T	XP_006718898.1:p.Ser244Phe
XM_006718835.3:c.731C>T	XP_006718898.1:p.Ser244Phe
XM_017017681.1:c.731C>T	XP_016873170.1:p.Ser244Phe
XM_017017682.2:c.623C>T	XP_016873171.1:p.Ser208Phe
XM_017017683.2:c.623C>T	XP_016873172.1:p.Ser208Phe
XM_024448511.1:c.731C>T	XP_024304279.1:p.Ser244Phe
XM_024448512.1:c.731C>T	XP_024304280.1:p.Ser244Phe
XM_024448513.1:c.731C>T	XP_024304281.1:p.Ser244Phe
XM_024448514.1:c.731C>T	XP_024304282.1:p.Ser244Phe
XM_024448515.1:c.731C>T	XP_024304283.1:p.Ser244Phe
NM_000019.4:c.1001C>T MANE Select	NP_000010.1:p.Ser334Phe
NM_001386677.1:c.1001C>T	NP_001373606.1:p.Ser334Phe
NM_001386678.1:c.686C>T	NP_001373607.1:p.Ser229Phe
NM_001386679.1:c.704C>T	NP_001373608.1:p.Ser235Phe
NM_001386681.1:c.731C>T	NP_001373610.1:p.Ser244Phe
NM_001386682.1:c.731C>T	NP_001373611.1:p.Ser244Phe
NM_001386685.1:c.731C>T	NP_001373614.1:p.Ser244Phe
NM_001386686.1:c.731C>T	NP_001373615.1:p.Ser244Phe
NM_001386687.1:c.731C>T	NP_001373616.1:p.Ser244Phe
NM_001386688.1:c.731C>T	NP_001373617.1:p.Ser244Phe
NM_001386689.1:c.731C>T	NP_001373618.1:p.Ser244Phe
NM_001386690.1:c.731C>T	NP_001373619.1:p.Ser244Phe
NM_001386691.1:c.731C>T	NP_001373620.1:p.Ser244Phe
NR_170162.1:n.980+1493C>T
NR_170163.1:n.1034C>T