Canonical Allele Identifier: CA5336681

Gene: INPP5E

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136430393G>A , CM000671.2:g.136430393G>A	GRCh38
NC_000009.11:g.139324845G>A , CM000671.1:g.139324845G>A	GRCh37
NC_000009.10:g.138444666G>A	NCBI36
NG_016126.1:g.14412C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_019892.6:c.1686C>T MANE Select	NP_063945.2:p.Ser562=
ENST00000371712.4:c.1686C>T MANE Select	ENSP00000360777.3:p.Ser562=
NM_001318502.1:c.1683C>T	NP_001305431.1:p.Ser561=
NM_001318502.2:c.1683C>T	NP_001305431.1:p.Ser561=
NM_019892.4:c.1686C>T	NP_063945.2:p.Ser562=
NM_019892.5:c.1686C>T	NP_063945.2:p.Ser562=
ENST00000371712.3:c.1686C>T	ENSP00000360777.3:p.Ser562=
ENST00000674693.1:n.203C>T
ENST00000676019.1:c.1584C>T	ENSP00000501984.1:p.Ser528=
XM_005266094.2:c.1683C>T	XP_005266151.1:p.Ser561=
XM_017014926.1:c.1686C>T	XP_016870415.1:p.Ser562=
XR_929828.2:n.2291C>T