Canonical Allele Identifier: CA2242889310
Gene: INPP5K HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.1496094A= , CM000679.2:g.1496094A= GRCh38
NC_000017.10:g.1399388A= , CM000679.1:g.1399388A= GRCh37
NC_000017.9:g.1346138A= NCBI36
NG_029891.1:g.25795T=
NG_047063.1:g.1614T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000421807.7:c.1256T= MANE Select ENSP00000413937.2:p.Leu419=
ENST00000320345.10:c.1028T= ENSP00000318476.6:p.Leu343=
ENST00000350761.9:c.*847T= ENSP00000254712.5:n.*847T=
ENST00000406424.8:c.1028T= ENSP00000385177.4:p.Leu343=
ENST00000421807.6:c.1256T= ENSP00000413937.2:p.Leu419=
ENST00000487039.1:n.368T=
NM_001135642.1:c.1028T= NP_001129114.1:p.Leu343=
NM_016532.3:c.1256T= NP_057616.2:p.Leu419=
NM_130766.2:c.1028T= NP_570122.1:p.Leu343=
XM_005256683.2:c.1028T= XP_005256740.1:p.Leu343=
XM_005256685.1:c.980T= XP_005256742.1:p.Leu327=
XM_005256686.1:c.980T= XP_005256743.1:p.Leu327=
XM_011523934.1:c.1028T= XP_011522236.1:p.Leu343=
XM_011523935.1:c.1028T= XP_011522237.1:p.Leu343=
XM_011523936.1:c.851T= XP_011522238.1:p.Leu284=
XM_005256686.2:c.980T= XP_005256743.1:p.Leu327=
XM_011523936.2:c.851T= XP_011522238.1:p.Leu284=
XM_017024756.1:c.1028T= XP_016880245.1:p.Leu343=
XM_017024757.2:c.980T= XP_016880246.1:p.Leu327=
XM_017024758.2:c.851T= XP_016880247.1:p.Leu284=
XM_017024759.1:c.851T= XP_016880248.1:p.Leu284=
XM_024450802.1:c.1028T= XP_024306570.1:p.Leu343=
NM_016532.4:c.1256T= MANE Select NP_057616.2:p.Leu419=
NM_001135642.2:c.1028T= NP_001129114.1:p.Leu343=
NM_130766.3:c.1028T= NP_570122.1:p.Leu343=