Canonical Allele Identifier: CA776044
Community Standard Title: NM_005540.3(INPP5B):c.966G>T (p.Trp322Cys)
Gene: INPP5B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.37887399C>A , CM000663.2:g.37887399C>A GRCh38
NC_000001.10:g.38353071C>A , CM000663.1:g.38353071C>A GRCh37
NC_000001.9:g.38125658C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_005540.3:c.966G>T MANE Select NP_005531.2:p.Trp322Cys
ENST00000373024.8:c.966G>T MANE Select ENSP00000362115.3:p.Trp322Cys
NM_001297434.1:c.474G>T NP_001284363.1:p.Trp158Cys
NM_001297434.2:c.474G>T NP_001284363.1:p.Trp158Cys
NM_001350227.1:c.306G>T NP_001337156.1:p.Trp102Cys
NM_001350227.2:c.306G>T NP_001337156.1:p.Trp102Cys
NM_001350228.1:c.306G>T NP_001337157.1:p.Trp102Cys
NM_001365820.1:c.966G>T NP_001352749.1:p.Trp322Cys
NM_001365821.1:c.960G>T NP_001352750.1:p.Trp320Cys
NM_001365822.1:c.900G>T NP_001352751.1:p.Trp300Cys
NM_001365823.1:c.771G>T NP_001352752.1:p.Trp257Cys
NM_001365824.1:c.771G>T NP_001352753.1:p.Trp257Cys
NM_001365825.1:c.609G>T NP_001352754.1:p.Trp203Cys
NM_005540.2:c.966G>T NP_005531.2:p.Trp322Cys
NR_158628.1:n.1239G>T
NR_158629.1:n.1166G>T
NR_158630.1:n.1040G>T
NR_158631.1:n.553G>T
ENST00000373023.6:c.1206G>T ENSP00000362114.2:p.Trp402Cys
ENST00000373024.7:c.966G>T ENSP00000362115.3:p.Trp322Cys
ENST00000373026.5:c.1206G>T ENSP00000362117.1:p.Trp402Cys
ENST00000373027.5:c.474G>T ENSP00000362118.1:p.Trp158Cys
ENST00000458109.6:c.966G>T ENSP00000397748.3:p.Trp322Cys
ENST00000467066.1:n.169G>T
XM_005270835.3:c.966G>T XP_005270892.1:p.Trp322Cys
XM_006710619.2:c.387G>T XP_006710682.1:p.Trp129Cys
XM_006710621.2:c.771G>T XP_006710684.2:p.Trp257Cys
XM_011541387.1:c.900G>T XP_011539689.1:p.Trp300Cys
XM_011541388.1:c.870G>T XP_011539690.1:p.Trp290Cys
XM_011541389.1:c.966G>T XP_011539691.1:p.Trp322Cys
XM_011541390.1:c.966G>T XP_011539692.1:p.Trp322Cys
XM_011541391.1:c.966G>T XP_011539693.1:p.Trp322Cys
XM_011541392.1:c.387G>T XP_011539694.1:p.Trp129Cys
XM_011541392.2:c.387G>T XP_011539694.1:p.Trp129Cys
XM_011541393.1:c.387G>T XP_011539695.1:p.Trp129Cys
XM_011541393.2:c.387G>T XP_011539695.1:p.Trp129Cys
XM_017001206.1:c.966G>T XP_016856695.1:p.Trp322Cys
XM_024446762.1:c.966G>T XP_024302530.1:p.Trp322Cys
XR_946643.1:n.1087G>T
XR_946643.2:n.1097G>T
XR_946644.1:n.1087G>T
XR_946644.3:n.1098G>T