Canonical Allele Identifier: CA279496
Community Standard Title: NM_019892.6(INPP5E):c.1064C>T (p.Thr355Met)
Gene: INPP5E HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136433250G>A , CM000671.2:g.136433250G>A GRCh38
NC_000009.11:g.139327702G>A , CM000671.1:g.139327702G>A GRCh37
NC_000009.10:g.138447523G>A NCBI36
NG_016126.1:g.11555C>T

Transcript Alleles

HGVS Amino-acid Change
NM_019892.6:c.1064C>T MANE Select NP_063945.2:p.Thr355Met
ENST00000371712.4:c.1064C>T MANE Select ENSP00000360777.3:p.Thr355Met
NM_001318502.1:c.1064C>T NP_001305431.1:p.Thr355Met
NM_001318502.2:c.1064C>T NP_001305431.1:p.Thr355Met
NM_019892.4:c.1064C>T NP_063945.2:p.Thr355Met
NM_019892.5:c.1064C>T NP_063945.2:p.Thr355Met
ENST00000371712.3:c.1064C>T ENSP00000360777.3:p.Thr355Met
ENST00000676019.1:c.1035-73C>T ENSP00000501984.1:n.1035-73C>T
XM_005266094.2:c.1064C>T XP_005266151.1:p.Thr355Met
XM_017014926.1:c.1064C>T XP_016870415.1:p.Thr355Met
XR_929828.1:n.1504C>T
XR_929828.2:n.1506C>T