Canonical Allele Identifier: CA397536029

Gene: INPP5K

Linked Data

• dbSNP Id: rs751284761
• gnomAD v4: 17-1496076-A-T
• MyVariant Identifiers: chr17:g.1399370A>T (hg19) ; chr17:g.1496076A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1496076A>T , CM000679.2:g.1496076A>T	GRCh38
NC_000017.10:g.1399370A>T , CM000679.1:g.1399370A>T	GRCh37
NC_000017.9:g.1346120A>T	NCBI36
NG_029891.1:g.25813T>A
NG_047063.1:g.1632T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421807.7:c.1274T>A MANE Select	ENSP00000413937.2:p.Ile425Lys
ENST00000320345.10:c.1046T>A	ENSP00000318476.6:p.Ile349Lys
ENST00000350761.9:c.*865T>A	ENSP00000254712.5:n.*865T>A
ENST00000406424.8:c.1046T>A	ENSP00000385177.4:p.Ile349Lys
ENST00000421807.6:c.1274T>A	ENSP00000413937.2:p.Ile425Lys
ENST00000487039.1:n.386T>A
NM_001135642.1:c.1046T>A	NP_001129114.1:p.Ile349Lys
NM_016532.3:c.1274T>A	NP_057616.2:p.Ile425Lys
NM_130766.2:c.1046T>A	NP_570122.1:p.Ile349Lys
XM_005256683.2:c.1046T>A	XP_005256740.1:p.Ile349Lys
XM_005256685.1:c.998T>A	XP_005256742.1:p.Ile333Lys
XM_005256686.1:c.998T>A	XP_005256743.1:p.Ile333Lys
XM_011523934.1:c.1046T>A	XP_011522236.1:p.Ile349Lys
XM_011523935.1:c.1046T>A	XP_011522237.1:p.Ile349Lys
XM_011523936.1:c.869T>A	XP_011522238.1:p.Ile290Lys
XM_005256686.2:c.998T>A	XP_005256743.1:p.Ile333Lys
XM_011523936.2:c.869T>A	XP_011522238.1:p.Ile290Lys
XM_017024756.1:c.1046T>A	XP_016880245.1:p.Ile349Lys
XM_017024757.2:c.998T>A	XP_016880246.1:p.Ile333Lys
XM_017024758.2:c.869T>A	XP_016880247.1:p.Ile290Lys
XM_017024759.1:c.869T>A	XP_016880248.1:p.Ile290Lys
XM_024450802.1:c.1046T>A	XP_024306570.1:p.Ile349Lys
NM_016532.4:c.1274T>A MANE Select	NP_057616.2:p.Ile425Lys
NM_001135642.2:c.1046T>A	NP_001129114.1:p.Ile349Lys
NM_130766.3:c.1046T>A	NP_570122.1:p.Ile349Lys