Canonical Allele Identifier: CA1252401168
Gene: PNPT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.55672253C= , CM000664.2:g.55672253C= GRCh38
NC_000002.11:g.55899388C= , CM000664.1:g.55899388C= GRCh37
NC_000002.10:g.55752892C= NCBI36
NG_033012.1:g.26658G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000447944.7:c.867-207G= MANE Select ENSP00000400646.2:n.867-207G=
ENST00000260604.8:c.*422-207G= ENSP00000260604.4:n.*422-207G=
ENST00000415374.5:c.867-207G= ENSP00000393953.1:n.867-207G=
ENST00000447944.6:c.867-207G= ENSP00000400646.2:n.867-207G=
NM_033109.4:c.867-207G= NP_149100.2:n.867-207G=
XM_005264629.1:c.627-207G= XP_005264686.1:n.627-207G=
XM_011533142.1:c.867-207G= XP_011531444.1:n.867-207G=
XM_005264629.2:c.627-207G= XP_005264686.1:n.627-207G=
XM_017005172.1:c.627-207G= XP_016860661.1:n.627-207G=
XR_001739010.1:n.897-207G=
NM_033109.5:c.867-207G= MANE Select NP_149100.2:n.867-207G=