Canonical Allele Identifier: CA1252384202

Gene: PNPT1

Linked Data

• dbSNP Id: rs947782172
• gnomAD v4: 2-55643101-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55643101G>A , CM000664.2:g.55643101G>A	GRCh38
NC_000002.11:g.55870236G>A , CM000664.1:g.55870236G>A	GRCh37
NC_000002.10:g.55723740G>A	NCBI36
NG_033012.1:g.55810C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.2069+57C>T MANE Select	ENSP00000400646.2:n.2069+57C>T
ENST00000260604.8:c.*1611+57C>T	ENSP00000260604.4:n.*1611+57C>T
ENST00000415374.5:c.2069+57C>T	ENSP00000393953.1:n.2069+57C>T
ENST00000447944.6:c.2069+57C>T	ENSP00000400646.2:n.2069+57C>T
ENST00000481066.1:n.1131+57C>T
NM_033109.4:c.2069+57C>T	NP_149100.2:n.2069+57C>T
XM_005264629.1:c.1829+57C>T	XP_005264686.1:n.1829+57C>T
XM_005264629.2:c.1829+57C>T	XP_005264686.1:n.1829+57C>T
XM_017005172.1:c.1829+57C>T	XP_016860661.1:n.1829+57C>T
NM_033109.5:c.2069+57C>T MANE Select	NP_149100.2:n.2069+57C>T