Canonical Allele Identifier: CA2336116066

Gene: ITPKC COQ8B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40722063G= , CM000681.2:g.40722063G=	GRCh38
NC_000019.9:g.41227968G= , CM000681.1:g.41227968G=	GRCh37
NC_000019.8:g.45919808G=	NCBI36
NG_012970.1:g.9961G=

Transcript Alleles

HGVS	Amino-acid Change
NM_025194.3:c.1156-3277G= (ITPKC) MANE Select	NP_079470.1:n.1156-3277G=
ENST00000263370.3:c.1156-3277G= (ITPKC) MANE Select	ENSP00000263370.1:n.1156-3277G=
NM_025194.2:c.1156-3277G= (ITPKC)	NP_079470.1:n.1156-3277G=
ENST00000263370.2:c.1156-3277G= (ITPKC)	ENSP00000263370.1:n.1156-3277G=
ENST00000677039.1:n.16+3706C= (COQ8B)
ENST00000699488.1:c.1155+3773G= (ITPKC)	ENSP00000514399.1:n.1155+3773G=
ENST00000699489.1:c.1156-3277G= (ITPKC)	ENSP00000514400.1:n.1156-3277G=
ENST00000699490.1:c.1156-3277G= (ITPKC)	ENSP00000514401.1:n.1156-3277G=
XM_006723404.1:c.1156-3277G= (ITPKC)	XP_006723467.1:n.1156-3277G=
XM_017027324.2:c.307-3277G= (ITPKC)	XP_016882813.1:n.307-3277G=
XR_243961.1:n.1312-3277G= (ITPKC)