Canonical Allele Identifier: CA322547
Gene: PNPT1 HGNC NCBI

Linked Data

dbSNP Id: rs767608725
gnomAD v2: 2-55870312-C-T
gnomAD v4: 2-55643177-C-T
MyVariant Identifiers: chr2:g.55870312C>T (hg19) chr2:g.55643177C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.55643177C>T , CM000664.2:g.55643177C>T GRCh38
NC_000002.11:g.55870312C>T , CM000664.1:g.55870312C>T GRCh37
NC_000002.10:g.55723816C>T NCBI36
NG_033012.1:g.55734G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000447944.7:c.2050G>A MANE Select ENSP00000400646.2:p.Ala684Thr
ENST00000260604.8:c.*1592G>A ENSP00000260604.4:n.*1592G>A
ENST00000415374.5:c.2050G>A ENSP00000393953.1:p.Ala684Thr
ENST00000447944.6:c.2050G>A ENSP00000400646.2:p.Ala684Thr
ENST00000481066.1:n.1112G>A
NM_033109.4:c.2050G>A NP_149100.2:p.Ala684Thr
XM_005264629.1:c.1810G>A XP_005264686.1:p.Ala604Thr
XM_005264629.2:c.1810G>A XP_005264686.1:p.Ala604Thr
XM_017005172.1:c.1810G>A XP_016860661.1:p.Ala604Thr
NM_033109.5:c.2050G>A MANE Select NP_149100.2:p.Ala684Thr
Search 100 bp 5'
Search 100 bp 3'