Canonical Allele Identifier: CA8268321
Gene: INPP5K HGNC NCBI

Linked Data

dbSNP Id: rs780760951
gnomAD v2: 17-1399430-G-A
gnomAD v4: 17-1496136-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.1496136G>A , CM000679.2:g.1496136G>A GRCh38
NC_000017.10:g.1399430G>A , CM000679.1:g.1399430G>A GRCh37
NC_000017.9:g.1346180G>A NCBI36
NG_029891.1:g.25753C>T
NG_047063.1:g.1572C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000421807.7:c.1214C>T MANE Select ENSP00000413937.2:p.Thr405Ile
ENST00000320345.10:c.986C>T ENSP00000318476.6:p.Thr329Ile
ENST00000350761.9:c.*805C>T ENSP00000254712.5:n.*805C>T
ENST00000406424.8:c.986C>T ENSP00000385177.4:p.Thr329Ile
ENST00000421807.6:c.1214C>T ENSP00000413937.2:p.Thr405Ile
ENST00000487039.1:n.326C>T
NM_001135642.1:c.986C>T NP_001129114.1:p.Thr329Ile
NM_016532.3:c.1214C>T NP_057616.2:p.Thr405Ile
NM_130766.2:c.986C>T NP_570122.1:p.Thr329Ile
XM_005256683.2:c.986C>T XP_005256740.1:p.Thr329Ile
XM_005256685.1:c.938C>T XP_005256742.1:p.Thr313Ile
XM_005256686.1:c.938C>T XP_005256743.1:p.Thr313Ile
XM_011523934.1:c.986C>T XP_011522236.1:p.Thr329Ile
XM_011523935.1:c.986C>T XP_011522237.1:p.Thr329Ile
XM_011523936.1:c.809C>T XP_011522238.1:p.Thr270Ile
XM_005256686.2:c.938C>T XP_005256743.1:p.Thr313Ile
XM_011523936.2:c.809C>T XP_011522238.1:p.Thr270Ile
XM_017024756.1:c.986C>T XP_016880245.1:p.Thr329Ile
XM_017024757.2:c.938C>T XP_016880246.1:p.Thr313Ile
XM_017024758.2:c.809C>T XP_016880247.1:p.Thr270Ile
XM_017024759.1:c.809C>T XP_016880248.1:p.Thr270Ile
XM_024450802.1:c.986C>T XP_024306570.1:p.Thr329Ile
NM_016532.4:c.1214C>T MANE Select NP_057616.2:p.Thr405Ile
NM_001135642.2:c.986C>T NP_001129114.1:p.Thr329Ile
NM_130766.3:c.986C>T NP_570122.1:p.Thr329Ile