Canonical Allele Identifier: CA542831877

Gene: IP6K1

Linked Data

• dbSNP Id: rs1375416865
• gnomAD v2: 3-49772572-G-A
• gnomAD v3: 3-49735139-G-A
• gnomAD v4: 3-49735139-G-A
• MyVariant Identifiers: chr3:g.49772572G>A (hg19) ; chr3:g.49735139G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49735139G>A , CM000665.2:g.49735139G>A	GRCh38
NC_000003.11:g.49772572G>A , CM000665.1:g.49772572G>A	GRCh37
NC_000003.10:g.49747576G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000321599.9:c.435-2167C>T MANE Select	ENSP00000323780.4:n.435-2167C>T
ENST00000321599.8:c.435-2167C>T	ENSP00000323780.4:n.435-2167C>T
ENST00000395238.5:c.-61-2167C>T	ENSP00000378659.1:n.-61-2167C>T
ENST00000460540.1:c.-61-2167C>T	ENSP00000420762.1:n.-61-2167C>T
ENST00000468463.5:c.435-2167C>T	ENSP00000420467.1:n.435-2167C>T
ENST00000613416.4:c.435-2167C>T	ENSP00000482032.1:n.435-2167C>T
NM_001006115.2:c.-61-2167C>T	NP_001006115.1:n.-61-2167C>T
NM_001242829.1:c.435-2167C>T	NP_001229758.1:n.435-2167C>T
NM_153273.3:c.435-2167C>T	NP_695005.1:n.435-2167C>T
NM_153273.4:c.435-2167C>T MANE Select	NP_695005.1:n.435-2167C>T
NM_001006115.3:c.-61-2167C>T	NP_001006115.1:n.-61-2167C>T
NM_001242829.2:c.435-2167C>T	NP_001229758.1:n.435-2167C>T