Canonical Allele Identifier: CA8268313
Gene: INPP5K HGNC NCBI

Linked Data

ClinVar Variation Id: 1710488
ClinVar RCV Id: RCV002291495
dbSNP Id: rs777736302
gnomAD v2: 17-1399397-C-G
gnomAD v4: 17-1496103-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.1496103C>G , CM000679.2:g.1496103C>G GRCh38
NC_000017.10:g.1399397C>G , CM000679.1:g.1399397C>G GRCh37
NC_000017.9:g.1346147C>G NCBI36
NG_029891.1:g.25786G>C
NG_047063.1:g.1605G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000421807.7:c.1247G>C MANE Select ENSP00000413937.2:p.Ser416Thr
ENST00000320345.10:c.1019G>C ENSP00000318476.6:p.Ser340Thr
ENST00000350761.9:c.*838G>C ENSP00000254712.5:n.*838G>C
ENST00000406424.8:c.1019G>C ENSP00000385177.4:p.Ser340Thr
ENST00000421807.6:c.1247G>C ENSP00000413937.2:p.Ser416Thr
ENST00000487039.1:n.359G>C
NM_001135642.1:c.1019G>C NP_001129114.1:p.Ser340Thr
NM_016532.3:c.1247G>C NP_057616.2:p.Ser416Thr
NM_130766.2:c.1019G>C NP_570122.1:p.Ser340Thr
XM_005256683.2:c.1019G>C XP_005256740.1:p.Ser340Thr
XM_005256685.1:c.971G>C XP_005256742.1:p.Ser324Thr
XM_005256686.1:c.971G>C XP_005256743.1:p.Ser324Thr
XM_011523934.1:c.1019G>C XP_011522236.1:p.Ser340Thr
XM_011523935.1:c.1019G>C XP_011522237.1:p.Ser340Thr
XM_011523936.1:c.842G>C XP_011522238.1:p.Ser281Thr
XM_005256686.2:c.971G>C XP_005256743.1:p.Ser324Thr
XM_011523936.2:c.842G>C XP_011522238.1:p.Ser281Thr
XM_017024756.1:c.1019G>C XP_016880245.1:p.Ser340Thr
XM_017024757.2:c.971G>C XP_016880246.1:p.Ser324Thr
XM_017024758.2:c.842G>C XP_016880247.1:p.Ser281Thr
XM_017024759.1:c.842G>C XP_016880248.1:p.Ser281Thr
XM_024450802.1:c.1019G>C XP_024306570.1:p.Ser340Thr
NM_016532.4:c.1247G>C MANE Select NP_057616.2:p.Ser416Thr
NM_001135642.2:c.1019G>C NP_001129114.1:p.Ser340Thr
NM_130766.3:c.1019G>C NP_570122.1:p.Ser340Thr