Canonical Allele Identifier: CA397536531
Gene: INPP5K HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.1496161A>G , CM000679.2:g.1496161A>G GRCh38
NC_000017.10:g.1399455A>G , CM000679.1:g.1399455A>G GRCh37
NC_000017.9:g.1346205A>G NCBI36
NG_029891.1:g.25728T>C
NG_047063.1:g.1547T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000421807.7:c.1189T>C MANE Select ENSP00000413937.2:p.Tyr397His
ENST00000320345.10:c.961T>C ENSP00000318476.6:p.Tyr321His
ENST00000350761.9:c.*780T>C ENSP00000254712.5:n.*780T>C
ENST00000406424.8:c.961T>C ENSP00000385177.4:p.Tyr321His
ENST00000421807.6:c.1189T>C ENSP00000413937.2:p.Tyr397His
ENST00000487039.1:n.301T>C
ENST00000574561.1:c.457T>C ENSP00000461105.1:p.Tyr153His
NM_001135642.1:c.961T>C NP_001129114.1:p.Tyr321His
NM_016532.3:c.1189T>C NP_057616.2:p.Tyr397His
NM_130766.2:c.961T>C NP_570122.1:p.Tyr321His
XM_005256683.2:c.961T>C XP_005256740.1:p.Tyr321His
XM_005256685.1:c.913T>C XP_005256742.1:p.Tyr305His
XM_005256686.1:c.913T>C XP_005256743.1:p.Tyr305His
XM_011523934.1:c.961T>C XP_011522236.1:p.Tyr321His
XM_011523935.1:c.961T>C XP_011522237.1:p.Tyr321His
XM_011523936.1:c.784T>C XP_011522238.1:p.Tyr262His
XM_005256686.2:c.913T>C XP_005256743.1:p.Tyr305His
XM_011523936.2:c.784T>C XP_011522238.1:p.Tyr262His
XM_017024756.1:c.961T>C XP_016880245.1:p.Tyr321His
XM_017024757.2:c.913T>C XP_016880246.1:p.Tyr305His
XM_017024758.2:c.784T>C XP_016880247.1:p.Tyr262His
XM_017024759.1:c.784T>C XP_016880248.1:p.Tyr262His
XM_024450802.1:c.961T>C XP_024306570.1:p.Tyr321His
NM_016532.4:c.1189T>C MANE Select NP_057616.2:p.Tyr397His
NM_001135642.2:c.961T>C NP_001129114.1:p.Tyr321His
NM_130766.3:c.961T>C NP_570122.1:p.Tyr321His