Canonical Allele Identifier: CA2336115666

Gene: ITPKC COQ8B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40721201C= , CM000681.2:g.40721201C=	GRCh38
NC_000019.9:g.41227106C= , CM000681.1:g.41227106C=	GRCh37
NC_000019.8:g.45918946C=	NCBI36
NG_012970.1:g.9099C=
NG_027800.1:g.685G=

Transcript Alleles

HGVS	Amino-acid Change
NM_025194.3:c.1155+2911C= (ITPKC) MANE Select	NP_079470.1:n.1155+2911C=
ENST00000263370.3:c.1155+2911C= (ITPKC) MANE Select	ENSP00000263370.1:n.1155+2911C=
NM_025194.2:c.1155+2911C= (ITPKC)	NP_079470.1:n.1155+2911C=
ENST00000263370.2:c.1155+2911C= (ITPKC)	ENSP00000263370.1:n.1155+2911C=
ENST00000677039.1:n.16+4568G= (COQ8B)
ENST00000699488.1:c.1155+2911C= (ITPKC)	ENSP00000514399.1:n.1155+2911C=
ENST00000699489.1:c.1155+2911C= (ITPKC)	ENSP00000514400.1:n.1155+2911C=
ENST00000699490.1:c.1155+2911C= (ITPKC)	ENSP00000514401.1:n.1155+2911C=
XM_006723404.1:c.1155+2911C= (ITPKC)	XP_006723467.1:n.1155+2911C=
XM_017027324.2:c.306+2911C= (ITPKC)	XP_016882813.1:n.306+2911C=
XR_243961.1:n.1311+2911C= (ITPKC)