Canonical Allele Identifier: CA279520

Gene: INPP5E

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136432986A>G , CM000671.2:g.136432986A>G	GRCh38
NC_000009.11:g.139327438A>G , CM000671.1:g.139327438A>G	GRCh37
NC_000009.10:g.138447259A>G	NCBI36
NG_016126.1:g.11819T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_019892.6:c.1249T>C MANE Select	NP_063945.2:p.Ser417Pro
ENST00000371712.4:c.1249T>C MANE Select	ENSP00000360777.3:p.Ser417Pro
NM_001318502.1:c.1249T>C	NP_001305431.1:p.Ser417Pro
NM_001318502.2:c.1249T>C	NP_001305431.1:p.Ser417Pro
NM_019892.4:c.1249T>C	NP_063945.2:p.Ser417Pro
NM_019892.5:c.1249T>C	NP_063945.2:p.Ser417Pro
ENST00000371712.3:c.1249T>C	ENSP00000360777.3:p.Ser417Pro
ENST00000676019.1:c.1147T>C	ENSP00000501984.1:p.Ser383Pro
XM_005266094.2:c.1249T>C	XP_005266151.1:p.Ser417Pro
XM_017014926.1:c.1249T>C	XP_016870415.1:p.Ser417Pro
XR_929828.1:n.1689T>C
XR_929828.2:n.1691T>C