Canonical Allele Identifier: CA346932207
Gene: PNPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1507005
ClinVar RCV Id: RCV002009259
dbSNP Id: rs1369831810
gnomAD v2: 2-55899155-A-T
gnomAD v3: 2-55672020-A-T
gnomAD v4: 2-55672020-A-T
MyVariant Identifiers: chr2:g.55899155A>T (hg19) chr2:g.55672020A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.55672020A>T , CM000664.2:g.55672020A>T GRCh38
NC_000002.11:g.55899155A>T , CM000664.1:g.55899155A>T GRCh37
NC_000002.10:g.55752659A>T NCBI36
NG_033012.1:g.26891T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000447944.7:c.893T>A MANE Select ENSP00000400646.2:p.Val298Asp
ENST00000260604.8:c.*448T>A ENSP00000260604.4:n.*448T>A
ENST00000415374.5:c.893T>A ENSP00000393953.1:p.Val298Asp
ENST00000447944.6:c.893T>A ENSP00000400646.2:p.Val298Asp
NM_033109.4:c.893T>A NP_149100.2:p.Val298Asp
XM_005264629.1:c.653T>A XP_005264686.1:p.Val218Asp
XM_011533142.1:c.893T>A XP_011531444.1:p.Val298Asp
XM_005264629.2:c.653T>A XP_005264686.1:p.Val218Asp
XM_017005172.1:c.653T>A XP_016860661.1:p.Val218Asp
XR_001739010.1:n.923T>A
NM_033109.5:c.893T>A MANE Select NP_149100.2:p.Val298Asp
Search 100 bp 5'
Search 100 bp 3'