Canonical Allele Identifier: CA74547444

Gene: IP6K1

Linked Data

• dbSNP Id: rs114743368
• gnomAD v2: 3-49768808-C-T
• gnomAD v3: 3-49731375-C-T
• gnomAD v4: 3-49731375-C-T
• MyVariant Identifiers: chr3:g.49768808C>T (hg19) ; chr3:g.49731375C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49731375C>T , CM000665.2:g.49731375C>T	GRCh38
NC_000003.11:g.49768808C>T , CM000665.1:g.49768808C>T	GRCh37
NC_000003.10:g.49743812C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321599.9:c.616+1416G>A MANE Select	ENSP00000323780.4:n.616+1416G>A
ENST00000321599.8:c.616+1416G>A	ENSP00000323780.4:n.616+1416G>A
ENST00000395238.5:c.121+1416G>A	ENSP00000378659.1:n.121+1416G>A
ENST00000460540.1:c.121+1416G>A	ENSP00000420762.1:n.121+1416G>A
ENST00000468463.5:c.616+1416G>A	ENSP00000420467.1:n.616+1416G>A
ENST00000613416.4:c.616+1416G>A	ENSP00000482032.1:n.616+1416G>A
NM_001006115.2:c.121+1416G>A	NP_001006115.1:n.121+1416G>A
NM_001242829.1:c.616+1416G>A	NP_001229758.1:n.616+1416G>A
NM_153273.3:c.616+1416G>A	NP_695005.1:n.616+1416G>A
NM_153273.4:c.616+1416G>A MANE Select	NP_695005.1:n.616+1416G>A
NM_001006115.3:c.121+1416G>A	NP_001006115.1:n.121+1416G>A
NM_001242829.2:c.616+1416G>A	NP_001229758.1:n.616+1416G>A