Canonical Allele Identifier: CA5336753

Gene: INPP5E

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136431807C>T , CM000671.2:g.136431807C>T	GRCh38
NC_000009.11:g.139326259C>T , CM000671.1:g.139326259C>T	GRCh37
NC_000009.10:g.138446080C>T	NCBI36
NG_016126.1:g.12998G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_019892.6:c.1549+17G>A MANE Select	NP_063945.2:n.1549+17G>A
ENST00000371712.4:c.1549+17G>A MANE Select	ENSP00000360777.3:n.1549+17G>A
NM_001318502.1:c.1546+17G>A	NP_001305431.1:n.1546+17G>A
NM_001318502.2:c.1546+17G>A	NP_001305431.1:n.1546+17G>A
NM_019892.4:c.1549+17G>A	NP_063945.2:n.1549+17G>A
NM_019892.5:c.1549+17G>A	NP_063945.2:n.1549+17G>A
ENST00000371712.3:c.1549+17G>A	ENSP00000360777.3:n.1549+17G>A
ENST00000676019.1:c.1447+17G>A	ENSP00000501984.1:n.1447+17G>A
XM_005266094.2:c.1546+17G>A	XP_005266151.1:n.1546+17G>A
XM_017014926.1:c.1549+17G>A	XP_016870415.1:n.1549+17G>A
XR_929828.2:n.2154+17G>A