Canonical Allele Identifier: CA2242889268

Gene: INPP5K

Linked Data

• dbSNP Id: rs2074824612

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1496009G>C , CM000679.2:g.1496009G>C	GRCh38
NC_000017.10:g.1399303G>C , CM000679.1:g.1399303G>C	GRCh37
NC_000017.9:g.1346053G>C	NCBI36
NG_029891.1:g.25880C>G
NG_047063.1:g.1699C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000421807.7:c.1290+51C>G MANE Select	ENSP00000413937.2:n.1290+51C>G
ENST00000320345.10:c.1062+51C>G	ENSP00000318476.6:n.1062+51C>G
ENST00000350761.9:c.*881+51C>G	ENSP00000254712.5:n.*881+51C>G
ENST00000406424.8:c.1062+51C>G	ENSP00000385177.4:n.1062+51C>G
ENST00000421807.6:c.1290+51C>G	ENSP00000413937.2:n.1290+51C>G
ENST00000487039.1:n.402+51C>G
NM_001135642.1:c.1062+51C>G	NP_001129114.1:n.1062+51C>G
NM_016532.3:c.1290+51C>G	NP_057616.2:n.1290+51C>G
NM_130766.2:c.1062+51C>G	NP_570122.1:n.1062+51C>G
XM_005256683.2:c.1062+51C>G	XP_005256740.1:n.1062+51C>G
XM_005256685.1:c.1014+51C>G	XP_005256742.1:n.1014+51C>G
XM_005256686.1:c.1014+51C>G	XP_005256743.1:n.1014+51C>G
XM_011523934.1:c.1062+51C>G	XP_011522236.1:n.1062+51C>G
XM_011523935.1:c.1062+51C>G	XP_011522237.1:n.1062+51C>G
XM_011523936.1:c.885+51C>G	XP_011522238.1:n.885+51C>G
XM_005256686.2:c.1014+51C>G	XP_005256743.1:n.1014+51C>G
XM_011523936.2:c.885+51C>G	XP_011522238.1:n.885+51C>G
XM_017024756.1:c.1062+51C>G	XP_016880245.1:n.1062+51C>G
XM_017024757.2:c.1014+51C>G	XP_016880246.1:n.1014+51C>G
XM_017024758.2:c.885+51C>G	XP_016880247.1:n.885+51C>G
XM_017024759.1:c.885+51C>G	XP_016880248.1:n.885+51C>G
XM_024450802.1:c.1062+51C>G	XP_024306570.1:n.1062+51C>G
NM_016532.4:c.1290+51C>G MANE Select	NP_057616.2:n.1290+51C>G
NM_001135642.2:c.1062+51C>G	NP_001129114.1:n.1062+51C>G
NM_130766.3:c.1062+51C>G	NP_570122.1:n.1062+51C>G