Canonical Allele Identifier: CA1030926004

Gene: PNPT1

Linked Data

• dbSNP Id: rs1697225405
• gnomAD v3: 2-55680825-G-A
• gnomAD v4: 2-55680825-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55680825G>A , CM000664.2:g.55680825G>A	GRCh38
NC_000002.11:g.55907960G>A , CM000664.1:g.55907960G>A	GRCh37
NC_000002.10:g.55761464G>A	NCBI36
NG_033012.1:g.18086C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.517+30C>T MANE Select	ENSP00000400646.2:n.517+30C>T
ENST00000260604.8:c.*7C>T	ENSP00000260604.4:n.*7C>T
ENST00000415374.5:c.517+30C>T	ENSP00000393953.1:n.517+30C>T
ENST00000429805.1:c.*165+30C>T	ENSP00000411994.1:n.*165+30C>T
ENST00000447944.6:c.517+30C>T	ENSP00000400646.2:n.517+30C>T
NM_033109.4:c.517+30C>T	NP_149100.2:n.517+30C>T
XM_005264629.1:c.277+30C>T	XP_005264686.1:n.277+30C>T
XM_011533142.1:c.517+30C>T	XP_011531444.1:n.517+30C>T
XM_005264629.2:c.277+30C>T	XP_005264686.1:n.277+30C>T
XM_017005172.1:c.277+30C>T	XP_016860661.1:n.277+30C>T
XR_001739010.1:n.547+30C>T
NM_033109.5:c.517+30C>T MANE Select	NP_149100.2:n.517+30C>T