Canonical Allele Identifier: CA395196825

Gene: NPIPA2 NPIPA1 NPIPA3

Linked Data

• gnomAD v4: 16-14765192-G-C
• MyVariant Identifiers: chr16:g.14859049G>C (hg19) ; chr16:g.14765192G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.14765192G>C , CM000678.2:g.14765192G>C	GRCh38
NC_000016.9:g.14859049G>C , CM000678.1:g.14859049G>C	GRCh37
NC_000016.8:g.14766550G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529166.6:c.889G>C (NPIPA2) MANE Select	ENSP00000432029.1:p.Ala297Pro
ENST00000529166.5:c.889G>C (NPIPA2)	ENSP00000432029.1:p.Ala297Pro
ENST00000553201.1:c.832G>C (NPIPA2)	ENSP00000446882.1:p.Ala278Pro
ENST00000618714.4:c.63+14317G>C (NPIPA1)	ENSP00000484994.1:n.63+14317G>C
ENST00000619019.3:c.902-70G>C (NPIPA3)	ENSP00000479725.1:n.902-70G>C
ENST00000621766.4:c.832G>C (NPIPA3)	ENSP00000483111.1:p.Ala278Pro
NM_001277324.1:c.832G>C (NPIPA2)	NP_001264253.1:p.Ala278Pro
XM_005255489.2:c.832G>C (NPIPA2)	XP_005255546.1:p.Ala278Pro
XR_933118.1:n.168+1210C>G
XR_933119.1:n.168+1210C>G
XR_933120.1:n.168+1210C>G
XM_024450381.1:c.976G>C (NPIPA2)	XP_024306149.1:p.Ala326Pro
XM_024450382.1:c.976G>C (NPIPA2)	XP_024306150.1:p.Ala326Pro
XM_024450383.1:c.976G>C (NPIPA2)	XP_024306151.1:p.Ala326Pro
XM_024450384.1:c.913G>C (NPIPA2)	XP_024306152.1:p.Ala305Pro
XM_024450385.1:c.889G>C (NPIPA2)	XP_024306153.1:p.Ala297Pro
XM_024450386.1:c.889G>C (NPIPA2)	XP_024306154.1:p.Ala297Pro
XM_024450387.1:c.970+6G>C (NPIPA2)	XP_024306155.1:n.970+6G>C
XM_024450388.1:c.844G>C (NPIPA2)	XP_024306156.1:p.Ala282Pro
XR_933118.2:n.168+1210C>G
XR_933120.2:n.168+1210C>G
NM_001277324.3:c.832G>C (NPIPA2)	NP_001264253.1:p.Ala278Pro
NM_001395485.2:c.889G>C (NPIPA2) MANE Select	NP_001382414.1:p.Ala297Pro
NM_001395486.2:c.889G>C (NPIPA2)	NP_001382415.1:p.Ala297Pro