Canonical Allele Identifier: CA1252401289
Gene: PNPT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.55672497T= , CM000664.2:g.55672497T= GRCh38
NC_000002.11:g.55899632T= , CM000664.1:g.55899632T= GRCh37
NC_000002.10:g.55753136T= NCBI36
NG_033012.1:g.26414A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000447944.7:c.866+396A= MANE Select ENSP00000400646.2:n.866+396A=
ENST00000260604.8:c.*421+396A= ENSP00000260604.4:n.*421+396A=
ENST00000415374.5:c.866+396A= ENSP00000393953.1:n.866+396A=
ENST00000447944.6:c.866+396A= ENSP00000400646.2:n.866+396A=
NM_033109.4:c.866+396A= NP_149100.2:n.866+396A=
XM_005264629.1:c.626+396A= XP_005264686.1:n.626+396A=
XM_011533142.1:c.866+396A= XP_011531444.1:n.866+396A=
XM_005264629.2:c.626+396A= XP_005264686.1:n.626+396A=
XM_017005172.1:c.626+396A= XP_016860661.1:n.626+396A=
XR_001739010.1:n.896+396A=
NM_033109.5:c.866+396A= MANE Select NP_149100.2:n.866+396A=