Canonical Allele Identifier: CA776354
Community Standard Title: NM_005540.3(INPP5B):c.275T>A (p.Ile92Asn)
Gene: INPP5B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.37943645A>T , CM000663.2:g.37943645A>T GRCh38
NC_000001.10:g.38409317A>T , CM000663.1:g.38409317A>T GRCh37
NC_000001.9:g.38181904A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_005540.3:c.275T>A MANE Select NP_005531.2:p.Ile92Asn
ENST00000373024.8:c.275T>A MANE Select ENSP00000362115.3:p.Ile92Asn
NM_001365820.1:c.275T>A NP_001352749.1:p.Ile92Asn
NM_001365821.1:c.275T>A NP_001352750.1:p.Ile92Asn
NM_001365822.1:c.209T>A NP_001352751.1:p.Ile70Asn
NM_001365823.1:c.-100T>A NP_001352752.1:n.-100T>A
NM_001365824.1:c.-103T>A NP_001352753.1:n.-103T>A
NM_001365825.1:c.-83T>A NP_001352754.1:n.-83T>A
NM_005540.2:c.275T>A NP_005531.2:p.Ile92Asn
NR_158628.1:n.369T>A
NR_158629.1:n.369T>A
NR_158630.1:n.369T>A
ENST00000373021.1:c.275T>A ENSP00000362112.1:p.Ile92Asn
ENST00000373023.6:c.275T>A ENSP00000362114.2:p.Ile92Asn
ENST00000373024.7:c.275T>A ENSP00000362115.3:p.Ile92Asn
ENST00000373026.5:c.275T>A ENSP00000362117.1:p.Ile92Asn
ENST00000458109.6:c.275T>A ENSP00000397748.3:p.Ile92Asn
ENST00000491406.2:n.363T>A
XM_005270835.3:c.275T>A XP_005270892.1:p.Ile92Asn
XM_011541387.1:c.209T>A XP_011539689.1:p.Ile70Asn
XM_011541388.1:c.184+2111T>A XP_011539690.1:n.184+2111T>A
XM_011541389.1:c.275T>A XP_011539691.1:p.Ile92Asn
XM_011541390.1:c.275T>A XP_011539692.1:p.Ile92Asn
XM_011541391.1:c.275T>A XP_011539693.1:p.Ile92Asn
XM_017001206.1:c.275T>A XP_016856695.1:p.Ile92Asn
XM_024446762.1:c.275T>A XP_024302530.1:p.Ile92Asn
XR_001737982.1:n.750-1634A>T
XR_001737983.2:n.569-90A>T
XR_946643.1:n.396T>A
XR_946643.2:n.406T>A
XR_946644.1:n.396T>A
XR_946644.3:n.407T>A
XR_947193.1:n.659-90A>T
XR_947194.1:n.803-90A>T
XR_947195.1:n.659-1634A>T
XR_947196.1:n.477-90A>T
XR_947197.1:n.549-90A>T
XR_947198.1:n.367-90A>T