Canonical Allele Identifier: CA382507719

Gene: ACAT1

Linked Data

• gnomAD v4: 11-108141607-C-A
• MyVariant Identifiers: chr11:g.108012334C>A (hg19) ; chr11:g.108141607C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108141607C>A , CM000673.2:g.108141607C>A	GRCh38
NC_000011.9:g.108012334C>A , CM000673.1:g.108012334C>A	GRCh37
NC_000011.8:g.107517544C>A	NCBI36
NG_009888.1:g.25077C>A
NG_009888.2:g.29903C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265838.9:c.733C>A MANE Select	ENSP00000265838.4:p.Gln245Lys
ENST00000671707.1:n.828C>A
ENST00000672008.1:c.*291C>A	ENSP00000500499.1:n.*291C>A
ENST00000672031.1:c.733C>A	ENSP00000500463.1:p.Gln245Lys
ENST00000672284.1:c.463C>A	ENSP00000500444.1:p.Gln155Lys
ENST00000672354.1:c.733C>A	ENSP00000500490.1:p.Gln245Lys
ENST00000672367.1:c.370C>A	ENSP00000500209.1:p.Gln124Lys
ENST00000672580.1:c.582C>A	ENSP00000500366.1:p.Val194=
ENST00000672907.1:c.418C>A	ENSP00000500928.1:p.Gln140Lys
ENST00000673000.1:n.821C>A
ENST00000673531.1:c.463C>A	ENSP00000500163.1:p.Gln155Lys
ENST00000265838.8:c.733C>A	ENSP00000265838.4:p.Gln245Lys
ENST00000531813.5:c.*206C>A	ENSP00000435965.1:n.*206C>A
ENST00000532792.5:n.228C>A
ENST00000533610.1:n.194C>A
NM_000019.3:c.733C>A	NP_000010.1:p.Gln245Lys
XM_006718834.2:c.463C>A	XP_006718897.1:p.Gln155Lys
XM_006718835.2:c.463C>A	XP_006718898.1:p.Gln155Lys
XM_006718835.3:c.463C>A	XP_006718898.1:p.Gln155Lys
XM_017017681.1:c.463C>A	XP_016873170.1:p.Gln155Lys
XM_017017682.2:c.355C>A	XP_016873171.1:p.Gln119Lys
XM_017017683.2:c.355C>A	XP_016873172.1:p.Gln119Lys
XM_024448511.1:c.463C>A	XP_024304279.1:p.Gln155Lys
XM_024448512.1:c.463C>A	XP_024304280.1:p.Gln155Lys
XM_024448513.1:c.463C>A	XP_024304281.1:p.Gln155Lys
XM_024448514.1:c.463C>A	XP_024304282.1:p.Gln155Lys
XM_024448515.1:c.463C>A	XP_024304283.1:p.Gln155Lys
NM_000019.4:c.733C>A MANE Select	NP_000010.1:p.Gln245Lys
NM_001386677.1:c.733C>A	NP_001373606.1:p.Gln245Lys
NM_001386678.1:c.418C>A	NP_001373607.1:p.Gln140Lys
NM_001386679.1:c.436C>A	NP_001373608.1:p.Gln146Lys
NM_001386681.1:c.463C>A	NP_001373610.1:p.Gln155Lys
NM_001386682.1:c.463C>A	NP_001373611.1:p.Gln155Lys
NM_001386685.1:c.463C>A	NP_001373614.1:p.Gln155Lys
NM_001386686.1:c.463C>A	NP_001373615.1:p.Gln155Lys
NM_001386687.1:c.463C>A	NP_001373616.1:p.Gln155Lys
NM_001386688.1:c.463C>A	NP_001373617.1:p.Gln155Lys
NM_001386689.1:c.463C>A	NP_001373618.1:p.Gln155Lys
NM_001386690.1:c.463C>A	NP_001373619.1:p.Gln155Lys
NM_001386691.1:c.463C>A	NP_001373620.1:p.Gln155Lys
NR_170162.1:n.773C>A
NR_170163.1:n.766C>A