Canonical Allele Identifier: CA5336685
Community Standard Title: NM_019892.6(INPP5E):c.1666-12A>G
Gene: INPP5E HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136430425T>C , CM000671.2:g.136430425T>C GRCh38
NC_000009.11:g.139324877T>C , CM000671.1:g.139324877T>C GRCh37
NC_000009.10:g.138444698T>C NCBI36
NG_016126.1:g.14380A>G

Transcript Alleles

HGVS Amino-acid Change
NM_019892.6:c.1666-12A>G MANE Select NP_063945.2:n.1666-12A>G
ENST00000371712.4:c.1666-12A>G MANE Select ENSP00000360777.3:n.1666-12A>G
NM_001318502.1:c.1663-12A>G NP_001305431.1:n.1663-12A>G
NM_001318502.2:c.1663-12A>G NP_001305431.1:n.1663-12A>G
NM_019892.4:c.1666-12A>G NP_063945.2:n.1666-12A>G
NM_019892.5:c.1666-12A>G NP_063945.2:n.1666-12A>G
ENST00000371712.3:c.1666-12A>G ENSP00000360777.3:n.1666-12A>G
ENST00000674693.1:n.183-12A>G
ENST00000676019.1:c.1564-12A>G ENSP00000501984.1:n.1564-12A>G
XM_005266094.2:c.1663-12A>G XP_005266151.1:n.1663-12A>G
XM_017014926.1:c.1666-12A>G XP_016870415.1:n.1666-12A>G
XR_929828.2:n.2271-12A>G