Canonical Allele Identifier: CA1252401171
Gene: PNPT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.55672257G= , CM000664.2:g.55672257G= GRCh38
NC_000002.11:g.55899392G= , CM000664.1:g.55899392G= GRCh37
NC_000002.10:g.55752896G= NCBI36
NG_033012.1:g.26654C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000447944.7:c.867-211C= MANE Select ENSP00000400646.2:n.867-211C=
ENST00000260604.8:c.*422-211C= ENSP00000260604.4:n.*422-211C=
ENST00000415374.5:c.867-211C= ENSP00000393953.1:n.867-211C=
ENST00000447944.6:c.867-211C= ENSP00000400646.2:n.867-211C=
NM_033109.4:c.867-211C= NP_149100.2:n.867-211C=
XM_005264629.1:c.627-211C= XP_005264686.1:n.627-211C=
XM_011533142.1:c.867-211C= XP_011531444.1:n.867-211C=
XM_005264629.2:c.627-211C= XP_005264686.1:n.627-211C=
XM_017005172.1:c.627-211C= XP_016860661.1:n.627-211C=
XR_001739010.1:n.897-211C=
NM_033109.5:c.867-211C= MANE Select NP_149100.2:n.867-211C=