Canonical Allele Identifier: CA397536645

Gene: INPP5K

Linked Data

• gnomAD v4: 17-1496321-G-A
• MyVariant Identifiers: chr17:g.1399615G>A (hg19) ; chr17:g.1496321G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1496321G>A , CM000679.2:g.1496321G>A	GRCh38
NC_000017.10:g.1399615G>A , CM000679.1:g.1399615G>A	GRCh37
NC_000017.9:g.1346365G>A	NCBI36
NG_029891.1:g.25568C>T
NG_047063.1:g.1387C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421807.7:c.1183C>T MANE Select	ENSP00000413937.2:p.Gln395Ter
ENST00000320345.10:c.955C>T	ENSP00000318476.6:p.Gln319Ter
ENST00000350761.9:c.*774C>T	ENSP00000254712.5:n.*774C>T
ENST00000406424.8:c.955C>T	ENSP00000385177.4:p.Gln319Ter
ENST00000421807.6:c.1183C>T	ENSP00000413937.2:p.Gln395Ter
ENST00000487039.1:n.141C>T
ENST00000574561.1:c.451C>T	ENSP00000461105.1:p.Gln151Ter
NM_001135642.1:c.955C>T	NP_001129114.1:p.Gln319Ter
NM_016532.3:c.1183C>T	NP_057616.2:p.Gln395Ter
NM_130766.2:c.955C>T	NP_570122.1:p.Gln319Ter
XM_005256683.2:c.955C>T	XP_005256740.1:p.Gln319Ter
XM_005256685.1:c.907C>T	XP_005256742.1:p.Gln303Ter
XM_005256686.1:c.907C>T	XP_005256743.1:p.Gln303Ter
XM_011523934.1:c.955C>T	XP_011522236.1:p.Gln319Ter
XM_011523935.1:c.955C>T	XP_011522237.1:p.Gln319Ter
XM_011523936.1:c.778C>T	XP_011522238.1:p.Gln260Ter
XM_005256686.2:c.907C>T	XP_005256743.1:p.Gln303Ter
XM_011523936.2:c.778C>T	XP_011522238.1:p.Gln260Ter
XM_017024756.1:c.955C>T	XP_016880245.1:p.Gln319Ter
XM_017024757.2:c.907C>T	XP_016880246.1:p.Gln303Ter
XM_017024758.2:c.778C>T	XP_016880247.1:p.Gln260Ter
XM_017024759.1:c.778C>T	XP_016880248.1:p.Gln260Ter
XM_024450802.1:c.955C>T	XP_024306570.1:p.Gln319Ter
NM_016532.4:c.1183C>T MANE Select	NP_057616.2:p.Gln395Ter
NM_001135642.2:c.955C>T	NP_001129114.1:p.Gln319Ter
NM_130766.3:c.955C>T	NP_570122.1:p.Gln319Ter