Canonical Allele Identifier: CA1047781739

Gene: IP6K1

Linked Data

• dbSNP Id: rs2080597468
• gnomAD v3: 3-49735130-G-C
• gnomAD v4: 3-49735130-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49735130G>C , CM000665.2:g.49735130G>C	GRCh38
NC_000003.11:g.49772563G>C , CM000665.1:g.49772563G>C	GRCh37
NC_000003.10:g.49747567G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000321599.9:c.435-2158C>G MANE Select	ENSP00000323780.4:n.435-2158C>G
ENST00000321599.8:c.435-2158C>G	ENSP00000323780.4:n.435-2158C>G
ENST00000395238.5:c.-61-2158C>G	ENSP00000378659.1:n.-61-2158C>G
ENST00000460540.1:c.-61-2158C>G	ENSP00000420762.1:n.-61-2158C>G
ENST00000468463.5:c.435-2158C>G	ENSP00000420467.1:n.435-2158C>G
ENST00000613416.4:c.435-2158C>G	ENSP00000482032.1:n.435-2158C>G
NM_001006115.2:c.-61-2158C>G	NP_001006115.1:n.-61-2158C>G
NM_001242829.1:c.435-2158C>G	NP_001229758.1:n.435-2158C>G
NM_153273.3:c.435-2158C>G	NP_695005.1:n.435-2158C>G
NM_153273.4:c.435-2158C>G MANE Select	NP_695005.1:n.435-2158C>G
NM_001006115.3:c.-61-2158C>G	NP_001006115.1:n.-61-2158C>G
NM_001242829.2:c.435-2158C>G	NP_001229758.1:n.435-2158C>G