Canonical Allele Identifier: CA397536552

Gene: INPP5K

Linked Data

• gnomAD v4: 17-1496164-C-T
• MyVariant Identifiers: chr17:g.1399458C>T (hg19) ; chr17:g.1496164C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1496164C>T , CM000679.2:g.1496164C>T	GRCh38
NC_000017.10:g.1399458C>T , CM000679.1:g.1399458C>T	GRCh37
NC_000017.9:g.1346208C>T	NCBI36
NG_029891.1:g.25725G>A
NG_047063.1:g.1544G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421807.7:c.1186G>A MANE Select	ENSP00000413937.2:p.Val396Ile
ENST00000320345.10:c.958G>A	ENSP00000318476.6:p.Val320Ile
ENST00000350761.9:c.*777G>A	ENSP00000254712.5:n.*777G>A
ENST00000406424.8:c.958G>A	ENSP00000385177.4:p.Val320Ile
ENST00000421807.6:c.1186G>A	ENSP00000413937.2:p.Val396Ile
ENST00000487039.1:n.298G>A
ENST00000574561.1:c.454G>A	ENSP00000461105.1:p.Val152Ile
NM_001135642.1:c.958G>A	NP_001129114.1:p.Val320Ile
NM_016532.3:c.1186G>A	NP_057616.2:p.Val396Ile
NM_130766.2:c.958G>A	NP_570122.1:p.Val320Ile
XM_005256683.2:c.958G>A	XP_005256740.1:p.Val320Ile
XM_005256685.1:c.910G>A	XP_005256742.1:p.Val304Ile
XM_005256686.1:c.910G>A	XP_005256743.1:p.Val304Ile
XM_011523934.1:c.958G>A	XP_011522236.1:p.Val320Ile
XM_011523935.1:c.958G>A	XP_011522237.1:p.Val320Ile
XM_011523936.1:c.781G>A	XP_011522238.1:p.Val261Ile
XM_005256686.2:c.910G>A	XP_005256743.1:p.Val304Ile
XM_011523936.2:c.781G>A	XP_011522238.1:p.Val261Ile
XM_017024756.1:c.958G>A	XP_016880245.1:p.Val320Ile
XM_017024757.2:c.910G>A	XP_016880246.1:p.Val304Ile
XM_017024758.2:c.781G>A	XP_016880247.1:p.Val261Ile
XM_017024759.1:c.781G>A	XP_016880248.1:p.Val261Ile
XM_024450802.1:c.958G>A	XP_024306570.1:p.Val320Ile
NM_016532.4:c.1186G>A MANE Select	NP_057616.2:p.Val396Ile
NM_001135642.2:c.958G>A	NP_001129114.1:p.Val320Ile
NM_130766.3:c.958G>A	NP_570122.1:p.Val320Ile