Canonical Allele Identifier: CA1047781828
Gene: IP6K1 HGNC NCBI

Linked Data

gnomAD v3: 3-49735247-T-C
gnomAD v4: 3-49735247-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49735247T>C , CM000665.2:g.49735247T>C GRCh38
NC_000003.11:g.49772680T>C , CM000665.1:g.49772680T>C GRCh37
NC_000003.10:g.49747684T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000321599.9:c.435-2275A>G MANE Select ENSP00000323780.4:n.435-2275A>G
ENST00000321599.8:c.435-2275A>G ENSP00000323780.4:n.435-2275A>G
ENST00000395238.5:c.-61-2275A>G ENSP00000378659.1:n.-61-2275A>G
ENST00000460540.1:c.-61-2275A>G ENSP00000420762.1:n.-61-2275A>G
ENST00000468463.5:c.435-2275A>G ENSP00000420467.1:n.435-2275A>G
ENST00000613416.4:c.435-2275A>G ENSP00000482032.1:n.435-2275A>G
NM_001006115.2:c.-61-2275A>G NP_001006115.1:n.-61-2275A>G
NM_001242829.1:c.435-2275A>G NP_001229758.1:n.435-2275A>G
NM_153273.3:c.435-2275A>G NP_695005.1:n.435-2275A>G
NM_153273.4:c.435-2275A>G MANE Select NP_695005.1:n.435-2275A>G
NM_001006115.3:c.-61-2275A>G NP_001006115.1:n.-61-2275A>G
NM_001242829.2:c.435-2275A>G NP_001229758.1:n.435-2275A>G