Canonical Allele Identifier: CA397536302

Gene: INPP5K

Linked Data

• gnomAD v4: 17-1496122-A-G
• MyVariant Identifiers: chr17:g.1399416A>G (hg19) ; chr17:g.1496122A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1496122A>G , CM000679.2:g.1496122A>G	GRCh38
NC_000017.10:g.1399416A>G , CM000679.1:g.1399416A>G	GRCh37
NC_000017.9:g.1346166A>G	NCBI36
NG_029891.1:g.25767T>C
NG_047063.1:g.1586T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421807.7:c.1228T>C MANE Select	ENSP00000413937.2:p.Phe410Leu
ENST00000320345.10:c.1000T>C	ENSP00000318476.6:p.Phe334Leu
ENST00000350761.9:c.*819T>C	ENSP00000254712.5:n.*819T>C
ENST00000406424.8:c.1000T>C	ENSP00000385177.4:p.Phe334Leu
ENST00000421807.6:c.1228T>C	ENSP00000413937.2:p.Phe410Leu
ENST00000487039.1:n.340T>C
NM_001135642.1:c.1000T>C	NP_001129114.1:p.Phe334Leu
NM_016532.3:c.1228T>C	NP_057616.2:p.Phe410Leu
NM_130766.2:c.1000T>C	NP_570122.1:p.Phe334Leu
XM_005256683.2:c.1000T>C	XP_005256740.1:p.Phe334Leu
XM_005256685.1:c.952T>C	XP_005256742.1:p.Phe318Leu
XM_005256686.1:c.952T>C	XP_005256743.1:p.Phe318Leu
XM_011523934.1:c.1000T>C	XP_011522236.1:p.Phe334Leu
XM_011523935.1:c.1000T>C	XP_011522237.1:p.Phe334Leu
XM_011523936.1:c.823T>C	XP_011522238.1:p.Phe275Leu
XM_005256686.2:c.952T>C	XP_005256743.1:p.Phe318Leu
XM_011523936.2:c.823T>C	XP_011522238.1:p.Phe275Leu
XM_017024756.1:c.1000T>C	XP_016880245.1:p.Phe334Leu
XM_017024757.2:c.952T>C	XP_016880246.1:p.Phe318Leu
XM_017024758.2:c.823T>C	XP_016880247.1:p.Phe275Leu
XM_017024759.1:c.823T>C	XP_016880248.1:p.Phe275Leu
XM_024450802.1:c.1000T>C	XP_024306570.1:p.Phe334Leu
NM_016532.4:c.1228T>C MANE Select	NP_057616.2:p.Phe410Leu
NM_001135642.2:c.1000T>C	NP_001129114.1:p.Phe334Leu
NM_130766.3:c.1000T>C	NP_570122.1:p.Phe334Leu