Canonical Allele Identifier: CA1667827
Gene: PNPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2108896
ClinVar RCV Id: RCV003017749
dbSNP Id: rs780574835
ExAC: 2:55870298 T / A
gnomAD v2: 2-55870298-T-A
gnomAD v4: 2-55643163-T-A
MyVariant Identifiers: chr2:g.55870298T>A (hg19) chr2:g.55643163T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.55643163T>A , CM000664.2:g.55643163T>A GRCh38
NC_000002.11:g.55870298T>A , CM000664.1:g.55870298T>A GRCh37
NC_000002.10:g.55723802T>A NCBI36
NG_033012.1:g.55748A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000447944.7:c.2064A>T MANE Select ENSP00000400646.2:p.Glu688Asp
ENST00000260604.8:c.*1606A>T ENSP00000260604.4:n.*1606A>T
ENST00000415374.5:c.2064A>T ENSP00000393953.1:p.Glu688Asp
ENST00000447944.6:c.2064A>T ENSP00000400646.2:p.Glu688Asp
ENST00000481066.1:n.1126A>T
NM_033109.4:c.2064A>T NP_149100.2:p.Glu688Asp
XM_005264629.1:c.1824A>T XP_005264686.1:p.Glu608Asp
XM_005264629.2:c.1824A>T XP_005264686.1:p.Glu608Asp
XM_017005172.1:c.1824A>T XP_016860661.1:p.Glu608Asp
NM_033109.5:c.2064A>T MANE Select NP_149100.2:p.Glu688Asp
Search 100 bp 5'
Search 100 bp 3'