Canonical Allele Identifier: CA1252398323

Gene: PNPT1

Linked Data

• dbSNP Id: rs1696748928
• gnomAD v4: 2-55666923-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55666923G>A , CM000664.2:g.55666923G>A	GRCh38
NC_000002.11:g.55894058G>A , CM000664.1:g.55894058G>A	GRCh37
NC_000002.10:g.55747562G>A	NCBI36
NG_033012.1:g.31988C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000447944.7:c.1176+68C>T MANE Select	ENSP00000400646.2:n.1176+68C>T
ENST00000260604.8:c.*731+68C>T	ENSP00000260604.4:n.*731+68C>T
ENST00000415374.5:c.1176+68C>T	ENSP00000393953.1:n.1176+68C>T
ENST00000415489.1:c.250+68C>T
ENST00000447944.6:c.1176+68C>T	ENSP00000400646.2:n.1176+68C>T
NM_033109.4:c.1176+68C>T	NP_149100.2:n.1176+68C>T
XM_005264629.1:c.936+68C>T	XP_005264686.1:n.936+68C>T
XM_011533142.1:c.1176+68C>T	XP_011531444.1:n.1176+68C>T
XM_005264629.2:c.936+68C>T	XP_005264686.1:n.936+68C>T
XM_017005172.1:c.936+68C>T	XP_016860661.1:n.936+68C>T
XR_001739010.1:n.1206+68C>T
NM_033109.5:c.1176+68C>T MANE Select	NP_149100.2:n.1176+68C>T