Canonical Allele Identifier: CA2699093416

Gene: PNPT1

Linked Data

• dbSNP Id: rs1002497658

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55672472A>T , CM000664.2:g.55672472A>T	GRCh38
NC_000002.11:g.55899607A>T , CM000664.1:g.55899607A>T	GRCh37
NC_000002.10:g.55753111A>T	NCBI36
NG_033012.1:g.26439T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.866+421T>A MANE Select	ENSP00000400646.2:n.866+421T>A
ENST00000260604.8:c.*421+421T>A	ENSP00000260604.4:n.*421+421T>A
ENST00000415374.5:c.866+421T>A	ENSP00000393953.1:n.866+421T>A
ENST00000447944.6:c.866+421T>A	ENSP00000400646.2:n.866+421T>A
NM_033109.4:c.866+421T>A	NP_149100.2:n.866+421T>A
XM_005264629.1:c.626+421T>A	XP_005264686.1:n.626+421T>A
XM_011533142.1:c.866+421T>A	XP_011531444.1:n.866+421T>A
XM_005264629.2:c.626+421T>A	XP_005264686.1:n.626+421T>A
XM_017005172.1:c.626+421T>A	XP_016860661.1:n.626+421T>A
XR_001739010.1:n.896+421T>A
NM_033109.5:c.866+421T>A MANE Select	NP_149100.2:n.866+421T>A