Canonical Allele Identifier: CA2838314026

Gene: ITPK1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.92941933G>T , CM000676.2:g.92941933G>T	GRCh38
NC_000014.8:g.93408278G>T , CM000676.1:g.93408278G>T	GRCh37
NC_000014.7:g.92478031G>T	NCBI36
NG_051071.1:g.178987C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267615.11:c.902-29C>A MANE Select	ENSP00000267615.5:n.902-29C>A
ENST00000267615.10:c.902-29C>A	ENSP00000267615.5:n.902-29C>A
ENST00000354313.7:c.902-3407C>A	ENSP00000346272.3:n.902-3407C>A
ENST00000555495.5:c.545-29C>A	ENSP00000451893.1:n.545-29C>A
ENST00000556603.6:c.902-29C>A	ENSP00000451091.1:n.902-29C>A
NM_001142593.1:c.902-29C>A	NP_001136065.1:n.902-29C>A
NM_001142594.1:c.902-3407C>A	NP_001136066.1:n.902-3407C>A
NM_014216.4:c.902-29C>A	NP_055031.2:n.902-29C>A
NM_001142593.2:c.902-29C>A	NP_001136065.1:n.902-29C>A
NM_001142594.2:c.902-3407C>A	NP_001136066.1:n.902-3407C>A
NM_001363707.1:c.545-29C>A	NP_001350636.1:n.545-29C>A
NM_014216.5:c.902-29C>A	NP_055031.2:n.902-29C>A
XM_017021262.1:c.1088-29C>A	XP_016876751.1:n.1088-29C>A
XM_017021263.1:c.512-29C>A	XP_016876752.1:n.512-29C>A
XM_017021264.1:c.512-29C>A	XP_016876753.1:n.512-29C>A
NM_014216.6:c.902-29C>A MANE Select	NP_055031.2:n.902-29C>A
NM_001142593.3:c.902-29C>A	NP_001136065.1:n.902-29C>A
NM_001142594.3:c.902-3407C>A	NP_001136066.1:n.902-3407C>A
NM_001363707.2:c.545-29C>A	NP_001350636.1:n.545-29C>A