Canonical Allele Identifier: CA346928687

Gene: PNPT1

Linked Data

• ClinVar Variation Id: 1478947
• ClinVar RCV Id: RCV001974425
• dbSNP Id: rs2104106774
• gnomAD v4: 2-55667050-C-G
• MyVariant Identifiers: chr2:g.55894185C>G (hg19) ; chr2:g.55667050C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55667050C>G , CM000664.2:g.55667050C>G	GRCh38
NC_000002.11:g.55894185C>G , CM000664.1:g.55894185C>G	GRCh37
NC_000002.10:g.55747689C>G	NCBI36
NG_033012.1:g.31861G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.1117G>C MANE Select	ENSP00000400646.2:p.Glu373Gln
ENST00000260604.8:c.*672G>C	ENSP00000260604.4:n.*672G>C
ENST00000415374.5:c.1117G>C	ENSP00000393953.1:p.Glu373Gln
ENST00000415489.1:c.191G>C
ENST00000447944.6:c.1117G>C	ENSP00000400646.2:p.Glu373Gln
NM_033109.4:c.1117G>C	NP_149100.2:p.Glu373Gln
XM_005264629.1:c.877G>C	XP_005264686.1:p.Glu293Gln
XM_011533142.1:c.1117G>C	XP_011531444.1:p.Glu373Gln
XM_005264629.2:c.877G>C	XP_005264686.1:p.Glu293Gln
XM_017005172.1:c.877G>C	XP_016860661.1:p.Glu293Gln
XR_001739010.1:n.1147G>C
NM_033109.5:c.1117G>C MANE Select	NP_149100.2:p.Glu373Gln