Canonical Allele Identifier: CA375563268

Gene: INPP5E

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136432498G>C , CM000671.2:g.136432498G>C	GRCh38
NC_000009.11:g.139326950G>C , CM000671.1:g.139326950G>C	GRCh37
NC_000009.10:g.138446771G>C	NCBI36
NG_016126.1:g.12307C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_019892.6:c.1368C>G MANE Select	NP_063945.2:p.Asn456Lys
ENST00000371712.4:c.1368C>G MANE Select	ENSP00000360777.3:p.Asn456Lys
NM_001318502.1:c.1365C>G	NP_001305431.1:p.Asn455Lys
NM_001318502.2:c.1365C>G	NP_001305431.1:p.Asn455Lys
NM_019892.4:c.1368C>G	NP_063945.2:p.Asn456Lys
NM_019892.5:c.1368C>G	NP_063945.2:p.Asn456Lys
ENST00000371712.3:c.1368C>G	ENSP00000360777.3:p.Asn456Lys
ENST00000676019.1:c.1266C>G	ENSP00000501984.1:p.Asn422Lys
XM_005266094.2:c.1365C>G	XP_005266151.1:p.Asn455Lys
XM_017014926.1:c.1368C>G	XP_016870415.1:p.Asn456Lys
XR_929828.1:n.1808C>G
XR_929828.2:n.1810C>G