Canonical Allele Identifier: CA2725143762

Gene: ACAT1

Linked Data

• ClinVar Variation Id: 3015588
• ClinVar RCV Id: RCV003873675
• dbSNP Id: rs2135355722

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108138917_108138937del , CM000673.2:g.108138917_108138937del	GRCh38
NC_000011.9:g.108009644_108009664del , CM000673.1:g.108009644_108009664del	GRCh37
NC_000011.8:g.107514854_107514874del	NCBI36
NG_009888.1:g.22387_22407del
NG_009888.2:g.27213_27233del

Transcript Alleles

HGVS	Amino-acid change
ENST00000265838.9:c.455_475del MANE Select	ENSP00000265838.4:p.Gly152_Asn158del
ENST00000671707.1:n.550_570del
ENST00000672008.1:c.*13_*33del	ENSP00000500499.1:n.*13_*33del
ENST00000672031.1:c.455_475del	ENSP00000500463.1:p.Gly152_Asn158del
ENST00000672284.1:c.185_205del	ENSP00000500444.1:p.Gly62_Asn68del
ENST00000672354.1:c.455_475del	ENSP00000500490.1:p.Gly152_Asn158del
ENST00000672367.1:c.92_112del	ENSP00000500209.1:p.Gly31_Asn37del
ENST00000672580.1:c.455_475del	ENSP00000500366.1:p.Gly152_Asn158del
ENST00000672907.1:c.140_160del	ENSP00000500928.1:p.Gly47_Asn53del
ENST00000673000.1:n.543_563del
ENST00000673531.1:c.185_205del	ENSP00000500163.1:p.Gly62_Asn68del
ENST00000265838.8:c.455_475del	ENSP00000265838.4:p.Gly152_Asn158del
ENST00000528370.1:c.261_281del
ENST00000531813.5:c.354_374del	ENSP00000435965.1:p.Trp118_Gln124del
ENST00000534773.1:n.198_218del
NM_000019.3:c.455_475del	NP_000010.1:p.Gly152_Asn158del
XM_006718834.2:c.185_205del	XP_006718897.1:p.Gly62_Asn68del
XM_006718835.2:c.185_205del	XP_006718898.1:p.Gly62_Asn68del
XM_006718835.3:c.185_205del	XP_006718898.1:p.Gly62_Asn68del
XM_017017681.1:c.185_205del	XP_016873170.1:p.Gly62_Asn68del
XM_017017682.2:c.77_97del	XP_016873171.1:p.Gly26_Asn32del
XM_017017683.2:c.77_97del	XP_016873172.1:p.Gly26_Asn32del
XM_024448511.1:c.185_205del	XP_024304279.1:p.Gly62_Asn68del
XM_024448512.1:c.185_205del	XP_024304280.1:p.Gly62_Asn68del
XM_024448513.1:c.185_205del	XP_024304281.1:p.Gly62_Asn68del
XM_024448514.1:c.185_205del	XP_024304282.1:p.Gly62_Asn68del
XM_024448515.1:c.185_205del	XP_024304283.1:p.Gly62_Asn68del
NM_000019.4:c.455_475del MANE Select	NP_000010.1:p.Gly152_Asn158del
NM_001386677.1:c.455_475del	NP_001373606.1:p.Gly152_Asn158del
NM_001386678.1:c.140_160del	NP_001373607.1:p.Gly47_Asn53del
NM_001386679.1:c.158_178del	NP_001373608.1:p.Gly53_Asn59del
NM_001386681.1:c.185_205del	NP_001373610.1:p.Gly62_Asn68del
NM_001386682.1:c.185_205del	NP_001373611.1:p.Gly62_Asn68del
NM_001386685.1:c.185_205del	NP_001373614.1:p.Gly62_Asn68del
NM_001386686.1:c.185_205del	NP_001373615.1:p.Gly62_Asn68del
NM_001386687.1:c.185_205del	NP_001373616.1:p.Gly62_Asn68del
NM_001386688.1:c.185_205del	NP_001373617.1:p.Gly62_Asn68del
NM_001386689.1:c.185_205del	NP_001373618.1:p.Gly62_Asn68del
NM_001386690.1:c.185_205del	NP_001373619.1:p.Gly62_Asn68del
NM_001386691.1:c.185_205del	NP_001373620.1:p.Gly62_Asn68del
NR_170162.1:n.495_515del
NR_170163.1:n.488_508del