Canonical Allele Identifier: CA346938822

Gene: PNPT1

Linked Data

• ClinVar Variation Id: 450682
• ClinVar RCV Id: RCV000520628
• dbSNP Id: rs1553501171
• gnomAD v4: 2-55680756-G-A
• MyVariant Identifiers: chr2:g.55907891G>A (hg19) ; chr2:g.55680756G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55680756G>A , CM000664.2:g.55680756G>A	GRCh38
NC_000002.11:g.55907891G>A , CM000664.1:g.55907891G>A	GRCh37
NC_000002.10:g.55761395G>A	NCBI36
NG_033012.1:g.18155C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000447944.7:c.521C>T MANE Select	ENSP00000400646.2:p.Ser174Phe
ENST00000260604.8:c.*76C>T	ENSP00000260604.4:n.*76C>T
ENST00000415374.5:c.521C>T	ENSP00000393953.1:p.Ser174Phe
ENST00000429805.1:c.*169C>T	ENSP00000411994.1:n.*169C>T
ENST00000447944.6:c.521C>T	ENSP00000400646.2:p.Ser174Phe
NM_033109.4:c.521C>T	NP_149100.2:p.Ser174Phe
XM_005264629.1:c.281C>T	XP_005264686.1:p.Ser94Phe
XM_011533142.1:c.521C>T	XP_011531444.1:p.Ser174Phe
XM_005264629.2:c.281C>T	XP_005264686.1:p.Ser94Phe
XM_017005172.1:c.281C>T	XP_016860661.1:p.Ser94Phe
XR_001739010.1:n.551C>T
NM_033109.5:c.521C>T MANE Select	NP_149100.2:p.Ser174Phe