Canonical Allele Identifier: CA775888
Community Standard Title: NM_005540.3(INPP5B):c.1517C>T (p.Thr506Met)
Gene: INPP5B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.37880109G>A , CM000663.2:g.37880109G>A GRCh38
NC_000001.10:g.38345781G>A , CM000663.1:g.38345781G>A GRCh37
NC_000001.9:g.38118368G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_005540.3:c.1517C>T MANE Select NP_005531.2:p.Thr506Met
ENST00000373024.8:c.1517C>T MANE Select ENSP00000362115.3:p.Thr506Met
NM_001297434.1:c.1025C>T NP_001284363.1:p.Thr342Met
NM_001297434.2:c.1025C>T NP_001284363.1:p.Thr342Met
NM_001350227.1:c.857C>T NP_001337156.1:p.Thr286Met
NM_001350227.2:c.857C>T NP_001337156.1:p.Thr286Met
NM_001350228.1:c.857C>T NP_001337157.1:p.Thr286Met
NM_001365820.1:c.1517C>T NP_001352749.1:p.Thr506Met
NM_001365821.1:c.1511C>T NP_001352750.1:p.Thr504Met
NM_001365822.1:c.1451C>T NP_001352751.1:p.Thr484Met
NM_001365823.1:c.1322C>T NP_001352752.1:p.Thr441Met
NM_001365824.1:c.1322C>T NP_001352753.1:p.Thr441Met
NM_001365825.1:c.1160C>T NP_001352754.1:p.Thr387Met
NM_005540.2:c.1517C>T NP_005531.2:p.Thr506Met
NR_158628.1:n.1790C>T
NR_158629.1:n.1717C>T
NR_158630.1:n.1663C>T
NR_158631.1:n.1104C>T
ENST00000373023.6:c.1757C>T ENSP00000362114.2:p.Thr586Met
ENST00000373024.7:c.1517C>T ENSP00000362115.3:p.Thr506Met
ENST00000373026.5:c.1757C>T ENSP00000362117.1:p.Thr586Met
ENST00000373027.5:c.1025C>T ENSP00000362118.1:p.Thr342Met
ENST00000458109.6:c.1517C>T ENSP00000397748.3:p.Thr506Met
XM_005270835.3:c.1517C>T XP_005270892.1:p.Thr506Met
XM_006710619.2:c.938C>T XP_006710682.1:p.Thr313Met
XM_006710621.2:c.1322C>T XP_006710684.2:p.Thr441Met
XM_011541387.1:c.1451C>T XP_011539689.1:p.Thr484Met
XM_011541388.1:c.1421C>T XP_011539690.1:p.Thr474Met
XM_011541389.1:c.1517C>T XP_011539691.1:p.Thr506Met
XM_011541390.1:c.1517C>T XP_011539692.1:p.Thr506Met
XM_011541391.1:c.1517C>T XP_011539693.1:p.Thr506Met
XM_011541392.1:c.938C>T XP_011539694.1:p.Thr313Met
XM_011541392.2:c.938C>T XP_011539694.1:p.Thr313Met
XM_011541393.1:c.938C>T XP_011539695.1:p.Thr313Met
XM_011541393.2:c.938C>T XP_011539695.1:p.Thr313Met
XM_017001206.1:c.1517C>T XP_016856695.1:p.Thr506Met
XM_024446762.1:c.1517C>T XP_024302530.1:p.Thr506Met
XR_946643.1:n.1638C>T
XR_946643.2:n.1648C>T
XR_946644.1:n.1638C>T
XR_946644.3:n.1649C>T