Canonical Allele Identifier: CA395196360

Gene: NPIPA2 NPIPA1 NPIPA3

Linked Data

• gnomAD v4: 16-14765103-C-A
• MyVariant Identifiers: chr16:g.14858960C>A (hg19) ; chr16:g.14765103C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.14765103C>A , CM000678.2:g.14765103C>A	GRCh38
NC_000016.9:g.14858960C>A , CM000678.1:g.14858960C>A	GRCh37
NC_000016.8:g.14766461C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529166.6:c.800C>A (NPIPA2) MANE Select	ENSP00000432029.1:p.Pro267His
ENST00000529166.5:c.800C>A (NPIPA2)	ENSP00000432029.1:p.Pro267His
ENST00000553201.1:c.743C>A (NPIPA2)	ENSP00000446882.1:p.Pro248His
ENST00000618714.4:c.63+14228C>A (NPIPA1)	ENSP00000484994.1:n.63+14228C>A
ENST00000619019.3:c.902-159C>A (NPIPA3)	ENSP00000479725.1:n.902-159C>A
ENST00000621766.4:c.743C>A (NPIPA3)	ENSP00000483111.1:p.Pro248His
NM_001277324.1:c.743C>A (NPIPA2)	NP_001264253.1:p.Pro248His
XM_005255489.2:c.743C>A (NPIPA2)	XP_005255546.1:p.Pro248His
XR_933118.1:n.168+1299G>T
XR_933119.1:n.168+1299G>T
XR_933120.1:n.168+1299G>T
XM_011522595.2:c.*246C>A (NPIPA2)	XP_011520897.1:n.*246C>A
XM_024450381.1:c.887C>A (NPIPA2)	XP_024306149.1:p.Pro296His
XM_024450382.1:c.887C>A (NPIPA2)	XP_024306150.1:p.Pro296His
XM_024450383.1:c.887C>A (NPIPA2)	XP_024306151.1:p.Pro296His
XM_024450384.1:c.824C>A (NPIPA2)	XP_024306152.1:p.Pro275His
XM_024450385.1:c.800C>A (NPIPA2)	XP_024306153.1:p.Pro267His
XM_024450386.1:c.800C>A (NPIPA2)	XP_024306154.1:p.Pro267His
XM_024450387.1:c.887C>A (NPIPA2)	XP_024306155.1:p.Pro296His
XM_024450388.1:c.755C>A (NPIPA2)	XP_024306156.1:p.Pro252His
XR_933118.2:n.168+1299G>T
XR_933120.2:n.168+1299G>T
NM_001277324.3:c.743C>A (NPIPA2)	NP_001264253.1:p.Pro248His
NM_001395485.2:c.800C>A (NPIPA2) MANE Select	NP_001382414.1:p.Pro267His
NM_001395486.2:c.800C>A (NPIPA2)	NP_001382415.1:p.Pro267His