Canonical Allele Identifier: CA279423

Gene: INPP5E

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136430395T>C , CM000671.2:g.136430395T>C	GRCh38
NC_000009.11:g.139324847T>C , CM000671.1:g.139324847T>C	GRCh37
NC_000009.10:g.138444668T>C	NCBI36
NG_016126.1:g.14410A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_019892.6:c.1684A>G MANE Select	NP_063945.2:p.Ser562Gly
ENST00000371712.4:c.1684A>G MANE Select	ENSP00000360777.3:p.Ser562Gly
NM_001318502.1:c.1681A>G	NP_001305431.1:p.Ser561Gly
NM_001318502.2:c.1681A>G	NP_001305431.1:p.Ser561Gly
NM_019892.4:c.1684A>G	NP_063945.2:p.Ser562Gly
NM_019892.5:c.1684A>G	NP_063945.2:p.Ser562Gly
ENST00000371712.3:c.1684A>G	ENSP00000360777.3:p.Ser562Gly
ENST00000674693.1:n.201A>G
ENST00000676019.1:c.1582A>G	ENSP00000501984.1:p.Ser528Gly
XM_005266094.2:c.1681A>G	XP_005266151.1:p.Ser561Gly
XM_017014926.1:c.1684A>G	XP_016870415.1:p.Ser562Gly
XR_929828.2:n.2289A>G