Canonical Allele Identifier: CA375561287

Gene: INPP5E

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136430353A>C , CM000671.2:g.136430353A>C	GRCh38
NC_000009.11:g.139324805A>C , CM000671.1:g.139324805A>C	GRCh37
NC_000009.10:g.138444626A>C	NCBI36
NG_016126.1:g.14452T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_019892.6:c.1726T>G MANE Select	NP_063945.2:p.Cys576Gly
ENST00000371712.4:c.1726T>G MANE Select	ENSP00000360777.3:p.Cys576Gly
NM_001318502.1:c.1723T>G	NP_001305431.1:p.Cys575Gly
NM_001318502.2:c.1723T>G	NP_001305431.1:p.Cys575Gly
NM_019892.4:c.1726T>G	NP_063945.2:p.Cys576Gly
NM_019892.5:c.1726T>G	NP_063945.2:p.Cys576Gly
ENST00000371712.3:c.1726T>G	ENSP00000360777.3:p.Cys576Gly
ENST00000674693.1:n.243T>G
ENST00000676019.1:c.1624T>G	ENSP00000501984.1:p.Cys542Gly
XM_005266094.2:c.1723T>G	XP_005266151.1:p.Cys575Gly
XM_017014926.1:c.1726T>G	XP_016870415.1:p.Cys576Gly
XR_929828.2:n.2331T>G