Canonical Allele Identifier: CA775729
Community Standard Title: NM_005540.3(INPP5B):c.2029A>T (p.Ile677Phe)
Gene: INPP5B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.37873088T>A , CM000663.2:g.37873088T>A GRCh38
NC_000001.10:g.38338760T>A , CM000663.1:g.38338760T>A GRCh37
NC_000001.9:g.38111347T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_005540.3:c.2029A>T MANE Select NP_005531.2:p.Ile677Phe
ENST00000373024.8:c.2029A>T MANE Select ENSP00000362115.3:p.Ile677Phe
NM_001297434.1:c.1537A>T NP_001284363.1:p.Ile513Phe
NM_001297434.2:c.1537A>T NP_001284363.1:p.Ile513Phe
NM_001350227.1:c.1369A>T NP_001337156.1:p.Ile457Phe
NM_001350227.2:c.1369A>T NP_001337156.1:p.Ile457Phe
NM_001350228.1:c.1369A>T NP_001337157.1:p.Ile457Phe
NM_001365820.1:c.2029A>T NP_001352749.1:p.Ile677Phe
NM_001365821.1:c.2023A>T NP_001352750.1:p.Ile675Phe
NM_001365822.1:c.1963A>T NP_001352751.1:p.Ile655Phe
NM_001365823.1:c.1834A>T NP_001352752.1:p.Ile612Phe
NM_001365824.1:c.1834A>T NP_001352753.1:p.Ile612Phe
NM_001365825.1:c.1672A>T NP_001352754.1:p.Ile558Phe
NM_005540.2:c.2029A>T NP_005531.2:p.Ile677Phe
NR_158628.1:n.2549A>T
NR_158629.1:n.2398A>T
NR_158630.1:n.2344A>T
NR_158631.1:n.1785A>T
ENST00000373023.6:c.2269A>T ENSP00000362114.2:p.Ile757Phe
ENST00000373024.7:c.2029A>T ENSP00000362115.3:p.Ile677Phe
ENST00000373026.5:c.2269A>T ENSP00000362117.1:p.Ile757Phe
ENST00000373027.5:c.1537A>T ENSP00000362118.1:p.Ile513Phe
ENST00000458109.6:c.2029A>T ENSP00000397748.3:p.Ile677Phe
ENST00000474758.1:n.300A>T
XM_005270835.3:c.2029A>T XP_005270892.1:p.Ile677Phe
XM_006710619.2:c.1450A>T XP_006710682.1:p.Ile484Phe
XM_006710621.2:c.1834A>T XP_006710684.2:p.Ile612Phe
XM_011541387.1:c.1963A>T XP_011539689.1:p.Ile655Phe
XM_011541388.1:c.1933A>T XP_011539690.1:p.Ile645Phe
XM_011541389.1:c.2029A>T XP_011539691.1:p.Ile677Phe
XM_011541390.1:c.2029A>T XP_011539692.1:p.Ile677Phe
XM_011541391.1:c.2029A>T XP_011539693.1:p.Ile677Phe
XM_011541392.1:c.1450A>T XP_011539694.1:p.Ile484Phe
XM_011541392.2:c.1450A>T XP_011539694.1:p.Ile484Phe
XM_011541393.1:c.1450A>T XP_011539695.1:p.Ile484Phe
XM_011541393.2:c.1450A>T XP_011539695.1:p.Ile484Phe
XM_017001206.1:c.2029A>T XP_016856695.1:p.Ile677Phe
XM_024446762.1:c.2029A>T XP_024302530.1:p.Ile677Phe
XR_946643.1:n.2150A>T
XR_946643.2:n.2160A>T