Canonical Allele Identifier: CA2520436536
Gene: IP6K1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49731543C>G , CM000665.2:g.49731543C>G GRCh38
NC_000003.11:g.49768976C>G , CM000665.1:g.49768976C>G GRCh37
NC_000003.10:g.49743980C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000321599.9:c.616+1248G>C MANE Select ENSP00000323780.4:n.616+1248G>C
ENST00000321599.8:c.616+1248G>C ENSP00000323780.4:n.616+1248G>C
ENST00000395238.5:c.121+1248G>C ENSP00000378659.1:n.121+1248G>C
ENST00000460540.1:c.121+1248G>C ENSP00000420762.1:n.121+1248G>C
ENST00000468463.5:c.616+1248G>C ENSP00000420467.1:n.616+1248G>C
ENST00000613416.4:c.616+1248G>C ENSP00000482032.1:n.616+1248G>C
NM_001006115.2:c.121+1248G>C NP_001006115.1:n.121+1248G>C
NM_001242829.1:c.616+1248G>C NP_001229758.1:n.616+1248G>C
NM_153273.3:c.616+1248G>C NP_695005.1:n.616+1248G>C
NM_153273.4:c.616+1248G>C MANE Select NP_695005.1:n.616+1248G>C
NM_001006115.3:c.121+1248G>C NP_001006115.1:n.121+1248G>C
NM_001242829.2:c.616+1248G>C NP_001229758.1:n.616+1248G>C