Canonical Allele Identifier: CA476665476

Gene: ACAT1

Linked Data

• ClinVar Variation Id: 3001688
• ClinVar RCV Id: RCV003862751
• gnomAD v4: 11-108146219-A-T
• MyVariant Identifiers: chr11:g.108016946A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108146219A>T , CM000673.2:g.108146219A>T	GRCh38
NC_000011.9:g.108016946A>T , CM000673.1:g.108016946A>T	GRCh37
NC_000011.8:g.107522156A>T	NCBI36
NG_009888.1:g.29689A>T
NG_009888.2:g.34515A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265838.9:c.1023A>T MANE Select	ENSP00000265838.4:p.Gly341=
ENST00000671707.1:n.1118A>T
ENST00000672031.1:c.*10A>T	ENSP00000500463.1:n.*10A>T
ENST00000672284.1:c.753A>T	ENSP00000500444.1:p.Gly251=
ENST00000672354.1:c.1023A>T	ENSP00000500490.1:p.Gly341=
ENST00000672367.1:c.660A>T	ENSP00000500209.1:p.Gly220=
ENST00000672580.1:c.*278A>T	ENSP00000500366.1:n.*278A>T
ENST00000672907.1:c.708A>T	ENSP00000500928.1:p.Gly236=
ENST00000673000.1:n.1111A>T
ENST00000673531.1:c.753A>T	ENSP00000500163.1:p.Gly251=
ENST00000265838.8:c.1023A>T	ENSP00000265838.4:p.Gly341=
ENST00000533597.1:n.99A>T
NM_000019.3:c.1023A>T	NP_000010.1:p.Gly341=
XM_006718834.2:c.753A>T	XP_006718897.1:p.Gly251=
XM_006718835.2:c.753A>T	XP_006718898.1:p.Gly251=
XM_006718835.3:c.753A>T	XP_006718898.1:p.Gly251=
XM_017017681.1:c.753A>T	XP_016873170.1:p.Gly251=
XM_017017682.2:c.645A>T	XP_016873171.1:p.Gly215=
XM_017017683.2:c.645A>T	XP_016873172.1:p.Gly215=
XM_024448511.1:c.753A>T	XP_024304279.1:p.Gly251=
XM_024448512.1:c.753A>T	XP_024304280.1:p.Gly251=
XM_024448513.1:c.753A>T	XP_024304281.1:p.Gly251=
XM_024448514.1:c.753A>T	XP_024304282.1:p.Gly251=
XM_024448515.1:c.753A>T	XP_024304283.1:p.Gly251=
NM_000019.4:c.1023A>T MANE Select	NP_000010.1:p.Gly341=
NM_001386677.1:c.1023A>T	NP_001373606.1:p.Gly341=
NM_001386678.1:c.708A>T	NP_001373607.1:p.Gly236=
NM_001386679.1:c.726A>T	NP_001373608.1:p.Gly242=
NM_001386681.1:c.753A>T	NP_001373610.1:p.Gly251=
NM_001386682.1:c.753A>T	NP_001373611.1:p.Gly251=
NM_001386685.1:c.753A>T	NP_001373614.1:p.Gly251=
NM_001386686.1:c.753A>T	NP_001373615.1:p.Gly251=
NM_001386687.1:c.753A>T	NP_001373616.1:p.Gly251=
NM_001386688.1:c.753A>T	NP_001373617.1:p.Gly251=
NM_001386689.1:c.753A>T	NP_001373618.1:p.Gly251=
NM_001386690.1:c.753A>T	NP_001373619.1:p.Gly251=
NM_001386691.1:c.753A>T	NP_001373620.1:p.Gly251=
NR_170162.1:n.998A>T
NR_170163.1:n.1056A>T