Canonical Allele Identifier: CA1252405746
Gene: PNPT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.55680991C= , CM000664.2:g.55680991C= GRCh38
NC_000002.11:g.55908126C= , CM000664.1:g.55908126C= GRCh37
NC_000002.10:g.55761630C= NCBI36
NG_033012.1:g.17920G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000447944.7:c.454-73G= MANE Select ENSP00000400646.2:n.454-73G=
ENST00000260604.8:c.454-73G= ENSP00000260604.4:n.454-73G=
ENST00000415374.5:c.454-73G= ENSP00000393953.1:n.454-73G=
ENST00000429805.1:c.*102-73G= ENSP00000411994.1:n.*102-73G=
ENST00000447944.6:c.454-73G= ENSP00000400646.2:n.454-73G=
NM_033109.4:c.454-73G= NP_149100.2:n.454-73G=
XM_005264629.1:c.214-73G= XP_005264686.1:n.214-73G=
XM_011533142.1:c.454-73G= XP_011531444.1:n.454-73G=
XM_005264629.2:c.214-73G= XP_005264686.1:n.214-73G=
XM_017005172.1:c.214-73G= XP_016860661.1:n.214-73G=
XR_001739010.1:n.484-73G=
NM_033109.5:c.454-73G= MANE Select NP_149100.2:n.454-73G=