Canonical Allele Identifier: CA286807344

Gene: INPP5K

Linked Data

• dbSNP Id: rs966919342
• gnomAD v4: 17-1495708-C-A
• MyVariant Identifiers: chr17:g.1399002C>A (hg19) ; chr17:g.1495708C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1495708C>A , CM000679.2:g.1495708C>A	GRCh38
NC_000017.10:g.1399002C>A , CM000679.1:g.1399002C>A	GRCh37
NC_000017.9:g.1345752C>A	NCBI36
NG_029891.1:g.26181G>T
NG_047063.1:g.2000G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421807.7:c.*115G>T MANE Select	ENSP00000413937.2:n.*115G>T
ENST00000320345.10:c.*115G>T	ENSP00000318476.6:n.*115G>T
ENST00000350761.9:c.*1053G>T	ENSP00000254712.5:n.*1053G>T
ENST00000406424.8:c.*115G>T	ENSP00000385177.4:n.*115G>T
ENST00000421807.6:c.*115G>T	ENSP00000413937.2:n.*115G>T
NM_001135642.1:c.*115G>T	NP_001129114.1:n.*115G>T
NM_016532.3:c.*115G>T	NP_057616.2:n.*115G>T
NM_130766.2:c.*115G>T	NP_570122.1:n.*115G>T
XM_005256683.2:c.*115G>T	XP_005256740.1:n.*115G>T
XM_005256685.1:c.*115G>T	XP_005256742.1:n.*115G>T
XM_005256686.1:c.*115G>T	XP_005256743.1:n.*115G>T
XM_011523934.1:c.*115G>T	XP_011522236.1:n.*115G>T
XM_011523935.1:c.*115G>T	XP_011522237.1:n.*115G>T
XM_011523936.1:c.*115G>T	XP_011522238.1:n.*115G>T
XM_005256686.2:c.*115G>T	XP_005256743.1:n.*115G>T
XM_011523936.2:c.*115G>T	XP_011522238.1:n.*115G>T
XM_017024756.1:c.*115G>T	XP_016880245.1:n.*115G>T
XM_017024757.2:c.*115G>T	XP_016880246.1:n.*115G>T
XM_017024758.2:c.*115G>T	XP_016880247.1:n.*115G>T
XM_017024759.1:c.*115G>T	XP_016880248.1:n.*115G>T
XM_024450802.1:c.*115G>T	XP_024306570.1:n.*115G>T
NM_016532.4:c.*115G>T MANE Select	NP_057616.2:n.*115G>T
NM_001135642.2:c.*115G>T	NP_001129114.1:n.*115G>T
NM_130766.3:c.*115G>T	NP_570122.1:n.*115G>T