Canonical Allele Identifier: CA277808
Community Standard Title: NM_019892.6(INPP5E):c.907G>A (p.Val303Met)
Gene: INPP5E HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136434769C>T , CM000671.2:g.136434769C>T GRCh38
NC_000009.11:g.139329221C>T , CM000671.1:g.139329221C>T GRCh37
NC_000009.10:g.138449042C>T NCBI36
NG_016126.1:g.10036G>A

Transcript Alleles

HGVS Amino-acid Change
NM_019892.6:c.907G>A MANE Select NP_063945.2:p.Val303Met
ENST00000371712.4:c.907G>A MANE Select ENSP00000360777.3:p.Val303Met
NM_001318502.1:c.907G>A NP_001305431.1:p.Val303Met
NM_001318502.2:c.907G>A NP_001305431.1:p.Val303Met
NM_019892.4:c.907G>A NP_063945.2:p.Val303Met
NM_019892.5:c.907G>A NP_063945.2:p.Val303Met
ENST00000371712.3:c.907G>A ENSP00000360777.3:p.Val303Met
ENST00000674513.1:n.178G>A
ENST00000675256.1:c.95G>A
ENST00000676019.1:c.907G>A ENSP00000501984.1:p.Val303Met
XM_005266094.2:c.907G>A XP_005266151.1:p.Val303Met
XM_017014926.1:c.907G>A XP_016870415.1:p.Val303Met
XR_929828.1:n.1347G>A
XR_929828.2:n.1349G>A