Canonical Allele Identifier: CA395196421

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.14765116A>T , CM000678.2:g.14765116A>T GRCh38
NC_000016.9:g.14858973A>T , CM000678.1:g.14858973A>T GRCh37
NC_000016.8:g.14766474A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000529166.6:c.813A>T (NPIPA2) MANE Select ENSP00000432029.1:p.Gln271His
ENST00000529166.5:c.813A>T (NPIPA2) ENSP00000432029.1:p.Gln271His
ENST00000553201.1:c.756A>T (NPIPA2) ENSP00000446882.1:p.Gln252His
ENST00000618714.4:c.63+14241A>T (NPIPA1) ENSP00000484994.1:n.63+14241A>T
ENST00000619019.3:c.902-146A>T (NPIPA3) ENSP00000479725.1:n.902-146A>T
ENST00000621766.4:c.756A>T (NPIPA3) ENSP00000483111.1:p.Gln252His
NM_001277324.1:c.756A>T (NPIPA2) NP_001264253.1:p.Gln252His
XM_005255489.2:c.756A>T (NPIPA2) XP_005255546.1:p.Gln252His
XR_933118.1:n.168+1286T>A
XR_933119.1:n.168+1286T>A
XR_933120.1:n.168+1286T>A
XM_011522595.2:c.*259A>T (NPIPA2) XP_011520897.1:n.*259A>T
XM_024450381.1:c.900A>T (NPIPA2) XP_024306149.1:p.Gln300His
XM_024450382.1:c.900A>T (NPIPA2) XP_024306150.1:p.Gln300His
XM_024450383.1:c.900A>T (NPIPA2) XP_024306151.1:p.Gln300His
XM_024450384.1:c.837A>T (NPIPA2) XP_024306152.1:p.Gln279His
XM_024450385.1:c.813A>T (NPIPA2) XP_024306153.1:p.Gln271His
XM_024450386.1:c.813A>T (NPIPA2) XP_024306154.1:p.Gln271His
XM_024450387.1:c.900A>T (NPIPA2) XP_024306155.1:p.Gln300His
XM_024450388.1:c.768A>T (NPIPA2) XP_024306156.1:p.Gln256His
XR_933118.2:n.168+1286T>A
XR_933120.2:n.168+1286T>A
NM_001277324.3:c.756A>T (NPIPA2) NP_001264253.1:p.Gln252His
NM_001395485.2:c.813A>T (NPIPA2) MANE Select NP_001382414.1:p.Gln271His
NM_001395486.2:c.813A>T (NPIPA2) NP_001382415.1:p.Gln271His