Canonical Allele Identifier: CA7260472

Gene: ACOT1 HEATR4

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73543216G>C , CM000676.2:g.73543216G>C	GRCh38
NC_000014.8:g.74009920G>C , CM000676.1:g.74009920G>C	GRCh37
NC_000014.7:g.73079673G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311148.9:c.827G>C (ACOT1) MANE Select	ENSP00000311224.4:p.Gly276Ala
ENST00000553558.6:c.-151-12972C>G (HEATR4) MANE Select	ENSP00000450444.2:n.-151-12972C>G
ENST00000311148.8:c.827G>C (ACOT1)	ENSP00000311224.4:p.Gly276Ala
ENST00000334988.2:c.-73+15535C>G (HEATR4)	ENSP00000335447.2:n.-73+15535C>G
ENST00000553558.5:c.-151-12972C>G (HEATR4)	ENSP00000450444.1:n.-151-12972C>G
ENST00000557556.1:c.749G>C (ACOT1)	ENSP00000451764.1:p.Gly250Ala
ENST00000563329.1:c.-320-12972C>G (HEATR4)	ENSP00000456792.1:n.-320-12972C>G
NM_001037161.1:c.827G>C (ACOT1)	NP_001032238.1:p.Gly276Ala
NM_001220484.1:c.-151-12972C>G (HEATR4) MANE Select	NP_001207413.1:n.-151-12972C>G
NM_203309.2:c.-73+15535C>G (HEATR4)	NP_976054.2:n.-73+15535C>G
XM_011537075.1:c.458G>C (ACOT1)	XP_011535377.1:p.Gly153Ala
XM_017021589.1:c.476G>C (ACOT1)	XP_016877078.1:p.Gly159Ala
XM_017021590.1:c.458G>C (ACOT1)	XP_016877079.1:p.Gly153Ala
XM_017021591.1:c.341G>C (ACOT1)	XP_016877080.1:p.Gly114Ala
XM_017021592.1:c.341G>C (ACOT1)	XP_016877081.1:p.Gly114Ala
NM_001037161.2:c.827G>C (ACOT1) MANE Select	NP_001032238.1:p.Gly276Ala