Canonical Allele Identifier: CA397536235

Gene: INPP5K

Linked Data

• dbSNP Id: rs1567544624
• gnomAD v3: 17-1496112-C-G
• gnomAD v4: 17-1496112-C-G
• MyVariant Identifiers: chr17:g.1399406C>G (hg19) ; chr17:g.1496112C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1496112C>G , CM000679.2:g.1496112C>G	GRCh38
NC_000017.10:g.1399406C>G , CM000679.1:g.1399406C>G	GRCh37
NC_000017.9:g.1346156C>G	NCBI36
NG_029891.1:g.25777G>C
NG_047063.1:g.1596G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421807.7:c.1238G>C MANE Select	ENSP00000413937.2:p.Cys413Ser
ENST00000320345.10:c.1010G>C	ENSP00000318476.6:p.Cys337Ser
ENST00000350761.9:c.*829G>C	ENSP00000254712.5:n.*829G>C
ENST00000406424.8:c.1010G>C	ENSP00000385177.4:p.Cys337Ser
ENST00000421807.6:c.1238G>C	ENSP00000413937.2:p.Cys413Ser
ENST00000487039.1:n.350G>C
NM_001135642.1:c.1010G>C	NP_001129114.1:p.Cys337Ser
NM_016532.3:c.1238G>C	NP_057616.2:p.Cys413Ser
NM_130766.2:c.1010G>C	NP_570122.1:p.Cys337Ser
XM_005256683.2:c.1010G>C	XP_005256740.1:p.Cys337Ser
XM_005256685.1:c.962G>C	XP_005256742.1:p.Cys321Ser
XM_005256686.1:c.962G>C	XP_005256743.1:p.Cys321Ser
XM_011523934.1:c.1010G>C	XP_011522236.1:p.Cys337Ser
XM_011523935.1:c.1010G>C	XP_011522237.1:p.Cys337Ser
XM_011523936.1:c.833G>C	XP_011522238.1:p.Cys278Ser
XM_005256686.2:c.962G>C	XP_005256743.1:p.Cys321Ser
XM_011523936.2:c.833G>C	XP_011522238.1:p.Cys278Ser
XM_017024756.1:c.1010G>C	XP_016880245.1:p.Cys337Ser
XM_017024757.2:c.962G>C	XP_016880246.1:p.Cys321Ser
XM_017024758.2:c.833G>C	XP_016880247.1:p.Cys278Ser
XM_017024759.1:c.833G>C	XP_016880248.1:p.Cys278Ser
XM_024450802.1:c.1010G>C	XP_024306570.1:p.Cys337Ser
NM_016532.4:c.1238G>C MANE Select	NP_057616.2:p.Cys413Ser
NM_001135642.2:c.1010G>C	NP_001129114.1:p.Cys337Ser
NM_130766.3:c.1010G>C	NP_570122.1:p.Cys337Ser