Canonical Allele Identifier: CA375561240

Gene: INPP5E

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136430339C>G , CM000671.2:g.136430339C>G	GRCh38
NC_000009.11:g.139324791C>G , CM000671.1:g.139324791C>G	GRCh37
NC_000009.10:g.138444612C>G	NCBI36
NG_016126.1:g.14466G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_019892.6:c.1740G>C MANE Select	NP_063945.2:p.Lys580Asn
ENST00000371712.4:c.1740G>C MANE Select	ENSP00000360777.3:p.Lys580Asn
NM_001318502.1:c.1737G>C	NP_001305431.1:p.Lys579Asn
NM_001318502.2:c.1737G>C	NP_001305431.1:p.Lys579Asn
NM_019892.4:c.1740G>C	NP_063945.2:p.Lys580Asn
NM_019892.5:c.1740G>C	NP_063945.2:p.Lys580Asn
ENST00000371712.3:c.1740G>C	ENSP00000360777.3:p.Lys580Asn
ENST00000674693.1:n.257G>C
ENST00000676019.1:c.1638G>C	ENSP00000501984.1:p.Lys546Asn
XM_005266094.2:c.1737G>C	XP_005266151.1:p.Lys579Asn
XM_017014926.1:c.1740G>C	XP_016870415.1:p.Lys580Asn
XR_929828.2:n.2345G>C