Canonical Allele Identifier: CA775524

Gene: INPP5B

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.37862358T>G , CM000663.2:g.37862358T>G	GRCh38
NC_000001.10:g.38328030T>G , CM000663.1:g.38328030T>G	GRCh37
NC_000001.9:g.38100617T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_005540.3:c.2699A>C MANE Select	NP_005531.2:p.Lys900Thr
ENST00000373024.8:c.2699A>C MANE Select	ENSP00000362115.3:p.Lys900Thr
NM_001297434.1:c.2207A>C	NP_001284363.1:p.Lys736Thr
NM_001297434.2:c.2207A>C	NP_001284363.1:p.Lys736Thr
NM_001350227.1:c.2039A>C	NP_001337156.1:p.Lys680Thr
NM_001350227.2:c.2039A>C	NP_001337156.1:p.Lys680Thr
NM_001350228.1:c.2039A>C	NP_001337157.1:p.Lys680Thr
NM_001365820.1:c.2699A>C	NP_001352749.1:p.Lys900Thr
NM_001365821.1:c.2693A>C	NP_001352750.1:p.Lys898Thr
NM_001365822.1:c.2633A>C	NP_001352751.1:p.Lys878Thr
NM_001365823.1:c.2504A>C	NP_001352752.1:p.Lys835Thr
NM_001365824.1:c.2504A>C	NP_001352753.1:p.Lys835Thr
NM_001365825.1:c.2342A>C	NP_001352754.1:p.Lys781Thr
NM_005540.2:c.2699A>C	NP_005531.2:p.Lys900Thr
NR_158628.1:n.3219A>C
NR_158629.1:n.3068A>C
NR_158630.1:n.3014A>C
NR_158631.1:n.2455A>C
ENST00000373023.6:c.2939A>C	ENSP00000362114.2:p.Lys980Thr
ENST00000373024.7:c.2699A>C	ENSP00000362115.3:p.Lys900Thr
ENST00000373026.5:c.2939A>C	ENSP00000362117.1:p.Lys980Thr
ENST00000373027.5:c.2207A>C	ENSP00000362118.1:p.Lys736Thr
ENST00000458109.6:c.*13A>C	ENSP00000397748.3:n.*13A>C
ENST00000487328.1:n.611A>C
XM_006710619.2:c.2120A>C	XP_006710682.1:p.Lys707Thr
XM_006710621.2:c.2504A>C	XP_006710684.2:p.Lys835Thr
XM_011541387.1:c.2633A>C	XP_011539689.1:p.Lys878Thr
XM_011541388.1:c.2603A>C	XP_011539690.1:p.Lys868Thr
XM_011541392.1:c.2120A>C	XP_011539694.1:p.Lys707Thr
XM_011541392.2:c.2120A>C	XP_011539694.1:p.Lys707Thr
XM_011541393.1:c.2120A>C	XP_011539695.1:p.Lys707Thr
XM_011541393.2:c.2120A>C	XP_011539695.1:p.Lys707Thr