Canonical Allele Identifier: CA395196576

Gene: NPIPA2 NPIPA1 NPIPA3

Linked Data

• dbSNP Id: rs1242288778
• gnomAD v3: 16-14765139-C-T
• gnomAD v4: 16-14765139-C-T
• MyVariant Identifiers: chr16:g.14858996C>T (hg19) ; chr16:g.14765139C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.14765139C>T , CM000678.2:g.14765139C>T	GRCh38
NC_000016.9:g.14858996C>T , CM000678.1:g.14858996C>T	GRCh37
NC_000016.8:g.14766497C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000529166.6:c.836C>T (NPIPA2) MANE Select	ENSP00000432029.1:p.Ser279Phe
ENST00000529166.5:c.836C>T (NPIPA2)	ENSP00000432029.1:p.Ser279Phe
ENST00000553201.1:c.779C>T (NPIPA2)	ENSP00000446882.1:p.Ser260Phe
ENST00000618714.4:c.63+14264C>T (NPIPA1)	ENSP00000484994.1:n.63+14264C>T
ENST00000619019.3:c.902-123C>T (NPIPA3)	ENSP00000479725.1:n.902-123C>T
ENST00000621766.4:c.779C>T (NPIPA3)	ENSP00000483111.1:p.Ser260Phe
NM_001277324.1:c.779C>T (NPIPA2)	NP_001264253.1:p.Ser260Phe
XM_005255489.2:c.779C>T (NPIPA2)	XP_005255546.1:p.Ser260Phe
XR_933118.1:n.168+1263G>A
XR_933119.1:n.168+1263G>A
XR_933120.1:n.168+1263G>A
XM_024450381.1:c.923C>T (NPIPA2)	XP_024306149.1:p.Ser308Phe
XM_024450382.1:c.923C>T (NPIPA2)	XP_024306150.1:p.Ser308Phe
XM_024450383.1:c.923C>T (NPIPA2)	XP_024306151.1:p.Ser308Phe
XM_024450384.1:c.860C>T (NPIPA2)	XP_024306152.1:p.Ser287Phe
XM_024450385.1:c.836C>T (NPIPA2)	XP_024306153.1:p.Ser279Phe
XM_024450386.1:c.836C>T (NPIPA2)	XP_024306154.1:p.Ser279Phe
XM_024450387.1:c.923C>T (NPIPA2)	XP_024306155.1:p.Ser308Phe
XM_024450388.1:c.791C>T (NPIPA2)	XP_024306156.1:p.Ser264Phe
XR_933118.2:n.168+1263G>A
XR_933120.2:n.168+1263G>A
NM_001277324.3:c.779C>T (NPIPA2)	NP_001264253.1:p.Ser260Phe
NM_001395485.2:c.836C>T (NPIPA2) MANE Select	NP_001382414.1:p.Ser279Phe
NM_001395486.2:c.836C>T (NPIPA2)	NP_001382415.1:p.Ser279Phe